Paeds Flashcards
Gross motor milestones
3 months
Little or no head lag on being pulled to sit
Lying on abdomen, good head control
Held sitting, lumbar curve
Gross motor milestones
6 months
Lying on abdomen arms extended
Lying on back, lifts and grasps feet
Pulls self to sitting
Held sitting, back straight
Rolls front to back
Gross motor milestones
7-8m
Sits without support
(Refer at 12m)
Gross motor milestones
9 months
Pulls to standing
Crawls
Gross motor milestones
12m
Cruises
Walks with one hand held
Gross motor milestones
13-15m
Walks unsupported
(Refer at 18m)
Gross motor milestones
2y
Runs
Walks upstairs and downstairs holding onto rail
Gross motor milestones
3y
Rides a tricycle using pedals
Walks up stairs without holding a rail
Gross motor milestones
4y
Hops on one leg
Pyloric stenosis presentation:
Pyloric stenosis typically presents in the second to fourth weeks of life with vomiting, although rarely may present later at up to four months. It is caused by hypertrophy of the circular muscles of the pylorus
Features of Py Sten
‘projectile’ vomiting, typically 30 minutes after a feed
constipation and dehydration may also be present
a palpable mass may be present in the upper abdomen
hypochloraemic, hypokalaemic alkalosis due to persistent vomiting
Dx of py sten
USS
Ramstedt pylorotomy
Used in management of py sten
Excision of the hypertrophied circular muscles of the pylorus
Def intussuception
Intussusception describes the invagination of one portion of bowel into the lumen of the adjacent bowel, most commonly around the ileo-caecal region.
Intussusception usually affects infants between 6-18 months old. Boys are affected twice as often as girls
Features of intussuception
paroxysmal abdominal colic pain
during paroxysm the infant will characteristically draw their knees up and turn pale
vomiting
blood stained stool - ‘red-currant jelly’
sausage-shaped mass in the right lower quadrant
Ix intussuception
USS
Mx of intussuception
Air insuffation under radiological control
If the child has signs of peritonitis or the air insufflation fails, Sx
A 2-month-old boy is brought to the afternoon surgery by his mother. Since the morning he has been taking reduced feeds and has been ‘not his usual self’. On examination the baby appears well but has a temperature of 38.7ºC. What is the most appropriate management?
Advise regarding antipyretics, to see if not settling
IM benzylpenicillin
Advise regarding antipyretics, booked appointment for next day
Admit to hospital
Empirical amoxicillin for 7 days
Any child less than 3 months old with a temperature > 38ºC is regarded as a ‘red’ feature in the new NICE guidelines, warranting urgent referral to a paediatrician. Although many experienced GPs may choose not to strictly follow such advice it is important to be aware of recent guidelines for the exam
Assessment of febrile children?
T: electronic thermometer in the axilla if <4w or with infra-red tympanic thermometer
HR
RR
CRT
Signs of dehydration: skin turgor
What are the categroies on the feverish illness guidelines
Colour
Activity
Respiratory
Circulation and hydration
Other
Mx of child at “green” on risk stratificiation for feverish illness?
Managed at home with appropriate care advice, including when to seek further help
Mx of child at “amber” on risk stratificiation for feverish illness?
Safety net or refer to paediatric specialist for further assessment
Safety net: verbal/written info about warning symptoms and how to access further care
Mx of child at “red” on risk stratificiation for feverish illness?
Admit to hospital
Key points for Mx of fever in child
Oral antibiotics should not be prescribed without identification of an apparent source of fever
CXR in ?pneumonia in children?
Not routinely performed
Green
Colour
Normal
Green
Activity
Responds normally to social cures
Content/smiles
Stays awake or wakens quickly
Strong normal cry/not crying
Green
Circulation and hydration
Normal skin and eyes
Moist mucous membranes
Important for Green risk stratification
No amber or red signs present
Amber
Coour
Pallor reported by patient/carer
Amber
Activity
Not responding to social cues normally
No smiles
Wakes only with prolonged stimulation
Decreased activity
Amber
Respiratory
Nasal flaring
Tachypnoea >50 breaths/m aged 6-12
>40 breats/minute age, 12m
Oxygen saturation <95% on air
Crackles in chest
Amber
Circulation
Tachycardia
12m: >160bpm
12-24m >150bpm
2-5y >140
CRT >3
Dry mucous membranes
Poor feeding in infants
Reduced urine output
Amber
Other things of note
3-6m >39 deg temperature
Fever for >5d
Rigors
Swelling of a limb or joint
Non-weight bearing limb/not using an extremity
Red
Colour
Pale/mottled/ashen/blue
Red
Activity
No response to social cues
Appears ill to healthcare professional
Does not wake or does not stay awake
Weak, high-pitched or continuous cry
Red
Respiratory
Grunting
Tachypnoea: RR >60
Moderate or severe chest indrawing
Red
Circulation
Reduced skin turgor
Red
Other features
Age <3m, T >38
Non blanching rash
Bulging fontanelle
Neck stiffness
Status epilepticus
Focal neurological signs
Foal seizures
Tachypnoea
6-12m
>50
Tachypnoea
>12m
>40
Tachycardia
<12m
>160bpm
Tachycardia
12-24m
>150bpm
Tachycardia
2-5y
>140bpm
A 3-year-old girl is brought in by her mother. Her mother reports that she has been eating less and refusing food for the past few weeks. Despite this her mother has noticed that her abdomen is distended and she has developed a ‘beer belly’. For the past year she has opened her bowels around once every other day, passing a stool of ‘normal’ consistency. There are no urinary symptoms. On examination she is on the 50th centile for height and weight. Her abdomen is soft but slightly distended and a non-tender ballotable mass can be felt on the left side. Her mother has tried lactulose but there has no significant improvement. What is the most appropriate next step in management?
Switch to polyethylene glycol 3350 + electrolytes (Movicol Paediatric Plain) and review in two weeks
Speak to a local paediatrician
Reassure normal findings and advise Health Visitor review to improve oral intake
Prescribe a Microlax enema
Continue lactulose and add ispaghula husk sachets
The history of constipation is not particularly convincing. A child passing a stool of normal consistency every other day is within the boundaries of normal. The key point to this question is recognising the abnormal examination finding - a ballotable mass associated with abdominal distension. Whilst an adult with such a ‘red flag’ symptom/sign would be fast-tracked it is more appropriate to speak to a paediatrician to determine the best referral pathway, which would probably be clinic review the same week.
Wilms’ tumour
WIlm’s tumour
Wilms’ nephroblastoma is one of the most common childhood malignancies. It typically presents in children under 5 years of age, with a median age of 3 years old.
Features of Wilm’s tumour
Abdominal mass (most common PC)
Painless haematuria
Flank pain
Anorexia, fever
Unilateral in 95%
Mest found in 20%
Wilm’s associated with
Beckwith-Wiedemann syndrome
As part of WAGR syndrome
Hemihypertrophy
1/3rd associated with a lof mutation in WT1 on chromosome 11
Beckwith-Wiedemann syndrome
Beckwith-Wiedemann syndrome is a condition that affects many parts of the body. It is classified as an overgrowth syndrome, which means that affected infants are considerably larger than normal (macrosomia) and tend to be taller than their peers during childhood. Growth begins to slow by about age 8, and adults with this condition are not unusually tall. In some children with Beckwith-Wiedemann syndrome, specific parts of the body on one side or the other may grow abnormally large, leading to an asymmetric or uneven appearance. This unusual growth pattern, which is known as hemihyperplasia, usually becomes less apparent over time.
WAGR Syndrome
WAGR syndrome is a rare geneticsyndrome in which affected children are predisposed to develop Wilms tumour (a tumour of the kidneys), Aniridia (absence of the coloured part of the eye, the iris),Genitourinary anomalies, and Retardation.[1]The G is sometimes instead given as “gonadoblastoma,” since the genitourinary anomalies are tumours of the gonads (testes or ovaries).[2]
A subset of WAGR syndrome patients shows severe childhood obesity; the acronymWAGRO (O for obesity) has been used to describe this category.[3]
The condition results from a deletion on chromosome 11 resulting in the loss of severalgenes. As such, it is one of the best studied examples of a condition caused by loss of neighbouring (contiguous) genes.[3]
Mx of Wilm’s
Management
nephrectomy
chemotherapy
radiotherapy if advanced disease
prognosis: good, 80% cure rate
Histological features of WIlms
Histological features include epithelial tubules, areas of necrosis, immature glomerular structures, stroma with spindle cells and small cell blastomatous tissues resembling the metanephric blastema
Features of pertussis
Caused by Bordetella pertussis
10-14d incubation
Infants rountely immunised at 2,3,4m and 3-5y. Pregnant women also immunised
Clinical features of pertussis
Coughing bouts: usually worse at night and after feeding, may be ended by vomiting and associated central cyanosis
inspiratory whoop (not always present), caused by forced inspriration against a closed glottis
Persistent coughing may cause subconjunctival haemorrhages or anorexia, leading to syncope and seizures
Symptoms may last 10-14w and tend to be more severe in infants
Lymphocytosis
Dx of pertussis
Per nasal swab culture for B. pertussis
PCR and serology may also be used
Mx of pertussis
Oral erythromycin to eradicate organism and reduce spread
Has not been shown to alter the course of the illness
Cx of pertussis
Subconjunctival haemorrhage
Pneumonia
Bronchiectasis
Seizures
A mother presents to your GP surgery with her six month old daughter. She has been struggling to feed her daughter, and her health visitor found that she was small for her age. Her mother is exhausted as she says her daughter sleeps poorly.
On examination, the baby is just below the 3rd centile in length. She has epicanthic folds and low set ears. Her neck appears short and she has micrognathia. You hear an ejection systolic murmur on auscultation.
What is the most likely diagnosis?
Fragile X syndrome
Down’s syndrome
Patau syndrome
Klinefelter’s syndrome
Turner’s syndrome
Turner’s syndrome is a genetic condition due to a loss or abnormality of one X chromosome. In infancy, children often have difficulty with feeding which contributes to poor weight gain, although the often have short stature too when older. Babies with Turner’s syndrome often have multiple dysmorphic features, but a webbed neck is often classical. It is also associated with cardiac abnormalities, in this question aortic stenosis although others are also common. Chromosome analysis would be needed to confirm the diagnosis.
While Down’s syndrome babies would have many of the dysmorphic features, they would not usually have a webbed neck or micrognathia. They may have loose skin at the nape of the neck but not webbing. It is caused by Trisomy 21.
Klinefelter’s syndrome is caused by having an extra X chromosome. They are often tall in stature with small testes and gynaecomastia. They do not tend to have the dysmorphic features.
Fragile X syndrome is due to a CGG repeat on the X chromosome. They tend to have learning difficulties, long ears, mitral valve prolapse and a large forehead and jaw.
Patau’s syndrome is caused by trisomy 13. They do tend to have intrauterine growth restriction leading to low birth weight, and can have congenital heart defects and ear abnormalities. However, they do not have webbing of the neck, and eye dysmorphic features tend to be microphthalmia or anophthalmia. They typically have rocker bottom feet and polydactyly.
Features of Turner’s syndrome
45XO
Short stature
Shield chest, widely spaced nipples
Webbed neck
Cardiac: bicuspid aortic valve, coarctation
Primary amenorrhoea
Cystic hygroma
High-arched palate
Short fourth metacarpal
Multiple pigmented naevi
Lymphoedema
Increased incidence of autoimmune disease: thyroiditis and Crohn’s especially
A 2 year old boy presents to the GP with his mother. She is worried that he is not growing at the same rate as the other children at his play group. His mother describes foul smelling diarrhoea about 4-5 times a week, accompanied by abdominal pain.
On examination he has a bloated abdomen and wasted buttocks. He has dropped 2 centile lines and now falls on the 10th centile.
What is the most appropriate initial investigation?
Stool sample
IgA TTG antibodies
Hydrogen breath test
Endoscopy
Abdominal xray
The most likely diagnosis here is coeliac disease, diagnosed using IgA TTG antibodies, as explained below.
A stool sample would be diagnostic for gastroenteritis, in order to dictate which antibiotic should be used.
The hydrogen breath test is used to diagnose irritable bowel syndrome or some food intolerances.
Endoscopy is more commonly used in adults where cancer is suspected.
An abdominal X-ray may be useful where obstruction is suspected.
Coeliac disease is a digestive condition which is becoming increasingly common, and describes an adverse reaction to gluten. gluten is a protein found in wheat, barley and rye.
Coeliac disease in children
Coeliac disease is caused by sensitivity to the protein gluten. Repeated exposure leads to villous atrophy which in turn causes malabsorption. Children normally present before the age of 3 years, following the introduction of cereals into the diet
Which HLAs are associated with coeliac?
HLA-DQ2 (95%)
HLA-B8 (80%)
Features of coeliac in children?
May coincide with the introduction of cereals
FTT
Diarrhoea
Abdominal distension
Older children may present with anaemia
May not be dxed until adulthood
Villous atrophy- Coeliac
Duodenal biopsy from a patient with coeliac disease. Complete atrophy of the villi with flat mucosa and marked crypt hyperplasia. Intraepithelial lymphocytosis. Dense mixed inflammatory infiltrate in the lamina propria.
Turner syndrome
45XO
Hirschprung’s features
Hirschsprung’s disease is caused by an aganglionic segment of bowel due to a developmental failure of the parasympathetic Auerbach and Meissner plexuses. Although rare (occurring in 1 in 5,000 births) it is an important differential diagnosis in childhood constipation
Possible presentations
neonatal period e.g. failure or delay to pass meconium
older children: constipation, abdominal distension
Associations
3 times more common in males
Down’s syndrome
Klumpke’s palsy
Klumpke’s palsy occurs due to damage of the lower brachial plexus and commonly affects the nerves innervating the muscles of the hand.
Erb’s palsy
Erb’s palsy occurs due to damage to the upper brachial plexus most commonly from shoulder dystocia. Damage to these nerve roots results in a characteristic pattern: adduction and internal rotation of the arm, with pronation of the forearm. This classic physical position is commonly called the ‘waiter’s tip’.
A male child from a travelling community is diagnosed with measles. Which one of the following complications is he at risk from in the immediate aftermath of the initial infection?
Arthritis
Pancreatitis
Infertility
Subacute sclerosing panencephalitis
Pneumonia
Subacute sclerosing panencephalitis is seen but develops 5-10 years following the illness. Pancreatitis and infertility may follow mumps infection
Pneumonia
Measles overview
Overview
RNA paramyxovirus
spread by droplets
infective from prodrome until 4 days after rash starts
incubation period = 10-14 days
Measles clinical features
Prodrome: irritable, conjunctivitis, fever
Koplik spots: grains of salt, on buccal mucosa
Rash: starts behind ears, then to whole body, discrete maculopapular rash becoming blotchy and confluent
Measles
Koplik spots
Pre-measles rash on buccal mucosa
Cxs of measles
encephalitis: typically occurs 1-2 weeks following the onset of the illness)
subacute sclerosing panencephalitis: very rare, may present 5-10 years following the illness
febrile convulsions
giant cell pneumonia
keratoconjunctivitis, corneal ulceration
diarrhoea
increased incidence of appendicitis
myocarditis
Mx of measles contacts
if a child not immunized against measles comes into contact with measles then MMR should be offered (vaccine-induced measles antibody develops more rapidly than that following natural infection)
this should be given within 72 hours
Def: nephrotic syndrome
Nephrotic syndrome is classically defined as a triad of
proteinuria (> 1 g/m^2 per 24 hours)
hypoalbuminaemia (< 25 g/l)
oedema
Nephrotic syndrome in children
In children the peak incidence is between 2 and 5 years of age. Around 80% of cases in children are due to a condition called minimal change glomerulonephritis. The condition generally carries a good prognosis with around 90% of cases responding to high-dose oral steroids.
Other features include hyperlipidaemia, a hypercoagulable state (due to loss of antithrombin III) and a predisposition to infection (due to loss of immunoglobulins)
Features of acute epiglottitis
Acute epiglottitis is rare but serious infection caused by Haemophilus influenzae type B. Prompt recognition and treatment is essential as airway obstruction may develop. Epiglottitis was generally considered a disease of childhood but in the UK it is now more common in adults due to the immunisation programme. The incidence of epiglottitis has decreased since the introduction of the Hib vaccine
Clinical features of epiglottits
Features
rapid onset
high temperature, generally unwell
stridor
drooling of saliva
Develpmental milestones
social behaviour
6w
Smiles
(Refer at 10w)
Develpmental milestones
social behaviour
3m
Laughs
Enjoys friendly handling
Develpmental milestones
social behaviour
6m
Not shy
Develpmental milestones
social behaviour
9m
Shy
Developmental milestones: feeding
6m
May put hand on bottle when being fed
Developmental milestones: feeding
12-15m
Drinks from cup and uses spoon
Developmental milestones: feeding
2y
Competent with sppon, doesn’t spill cup
Developmental milestones: feeding
3y
Uses spoon and fork
Developmental milestones: dressing
12-15m
Helps getting dress/undressed
Developmental milestones: dressing
18m
Takes of shoes, hat but unable to replace
Developmental milestones: dressing
2y
Puts on hat and shoes
Developmental milestones: dressing
4y
Can dress and undress independently except for laces and buttons
Developmental milestones: play
9m
Peek a boo
Developmental milestones: play
12m
Waves bye bye
Plays pat a cake
Developmental milestones: play
18m
Plays contentedly alone
Developmental milestones: play
2y
Plays near others, not with them
Developmental milestones: play
4y
Plays with other children
A 7-year-old boy is brought in to the GP surgery with an exacerbation of asthma. On examination he has a bilateral expiratory wheeze but there are no signs of respiratory distress. His respiratory rate is 36 / min and PEF around 60% of normal. What is the most appropriate action with regards to steroid therapy?
Oral prednisolone for 3 days
Admit for intravenous steroids
Give a stat dose of oral dexamethasone
Double his usual beclometasone dose
Do not give steroids
Oral prednisolone for 3 days
2-5y/o Asthma
Moderate attack
SpO2 >92%
No clinical features of severe asthma
2-5y/o Asthma
Severe attack
SpO2 <92%
Too breathless to talk or feed
HR >140
RR >40
Use of accessory neck muscles
2-5y/o Asthma
Life-threatening attack
SpO2 <92%
Silent chest
Poor respiratory effort
Agitation
Altered consciousness
Cyanosis
>5y/o Asthma
Moderate attack
SpO2 >92%
PEF >50% predicted
No clinical features of severe asthma
>5y/o Asthma
Severe attack
SpO2 <92
PEF 33-50
Can’t complete sentences in one breath or too breathless to talk or feed
HR >125
RR >30
Use of accessory neck muscles
>5y/o Asthma
Life-threatening attack
SpO2 <92
PEF <33
Silent chest
Poor respiratory effort
Altered consciousness
Cyanosis
PEF in children
Attempt to measure in all children >5
Mx of mild-moderate acute asthma
Bronchodilator:
Beta-2 agonist via a spacer (<3y use a close-fitting mask)
1 puff every 15-30secs, up to a maximum of 10 puffs, repeat dose after 10-20 mins if necessary
If symptoms are not controlled, repeat beta-2 and refer to hospital
Steroid therapy:
should be given to all children with asthma exacerbation
Treatment for 3-5d
Prednisolone dose
2-5y
>5y
Age Dose as per BTS Dose as per cBNF
2 - 5 years 20 mg o d1-2 mg/kg od (max 40mg)
> 5 years 30 - 40 mg od 1-2 mg/kg od (max 40mg)
A 9-year-old boy is brought to surgery with recurrent headaches. What is the most common cause of headaches in children?
Migraine
Depression
Refractive errors
Tension-type headache
Cluster headache
Migraine
Features of Hand foot and mouth disease?:
Hand, foot and mouth disease is a self-limiting condition affecting children. It is caused by the intestinal viruses of the Picornaviridae family (most commonly coxsackie A16 and enterovirus 71). It is very contagious and typically occurs in outbreaks at nursery
Clinical features
mild systemic upset: sore throat, fever
oral ulcers
followed later by vesicles on the palms and soles of the feet
Mx of hand foot and mouth?
Management
general advice about hydration and analgesia
reassurance no link to disease in cattle
children do not need to be excluded from school*
*The HPA recommends that children who are unwell should be kept off school until they feel better. They also advise that you contact them if you suspect that there may be a large outbreak.
Hand foot and mouth disease
Features of Croup?
Croup is a form of upper respiratory tract infection seen in infants and toddlers. It is characterised by stridor which is caused by a combination of laryngeal oedema and secretions. Parainfluenza viruses account for the majority of cases.
Epidemiology
peak incidence at 6 months - 3 years
more common in autumn
Features
stridor
barking cough (worse at night)
fever
coryzal symptoms
Features of mild croup
Occasional barking cough
No audible stridor at rest
No or mild suprasternal and or intercostal recession
Child is happy and is prepared to eat, drink and play
Features of moderate croup
Frequent barking cough
Easily audible stridor and rest
Suprasternal and sternal wall retraction at rest
No or little distress or agitation
Child can be placated
Features of severe croup
Frequent barking cough
Prominent inspiratory and occasionally expiratory stridor at rest
Marked sternal wall retractions
Significant distress and agitation or lethargy or restlessness (sign of hypoxaemia)
Tachycardia occurs with more sever obstructive symptoms and hypoxaemia
Indications for admission in croup
Moderate or severe croup
<6m
Known upper airway abnormality e.g. laryngomalacia, DS
Uncertainty about ddx (acute epiglottitis, bacterial tracheitis, peritonsillar abscess, FBI)
Mx of croup
Single dose of oral dexamethasone (0.15mg/kg)
Emergency:
High flow O2
Nebulised adrenaline
The parents of a 14-month-old girl present to their GP. They have noticed that in some photos there is no ‘red eye’ on the left hand side. When you examine the girl you notice an esotropic strabismus and a loss of the red-reflex in the left eye. There is a family history of a grandparent having an enucleation as a child. What is the most likely diagnosis?
Congenital hypertrophy of the retinal pigment epithelium
Uveal malignant melanoma
Neuroblastoma
Retinoblastoma
Congenital cataract
A congenital cataract may cause a loss of the red-reflex but is likely to have been detected at birth or during the routine baby-checks. It would also not explain the family history of enucleation.
Retinoblastoma
Features of retinoblastoma
Retinoblastoma is the most common ocular malignancy found in children. The average age of diagnosis is 18 months.
Pathophysiology
caused by a loss of function of the retinoblastoma tumour suppressor gene on chromosome 13
around 10% of cases are hereditary
Possible features
absence of red-reflex, repalced by a white pupil (leukocoria) - the most common presenting symptom
strabismus
visual problems
Mx of retinoblastoma
Management
enucleation is not the only option
depending on how advanced the tumour is other options include external beam radiation therapy, chemotherapy and photocoagulation
Prognosis
excellent, with > 90% surviving into adulthood
Draw management of asthma in children under 5
Draw management of asthma in children >5
What is the major risk factor for NRDS?
Prematurity
What is the major risk factor for TTN?
C-sec
What is the major risk factor for aspiration pneumonia?
Meconium staining
What differentiates between NRDS and TTN?
Neonates with NRDS usually present with respiratory distress shortly after birth which usually worsens over the next few days. In contrast, TTN usually presents with tachypnoea shortly after birth and often fully resolves within the first day of life. A chest radiograph can be useful
CXR in NRDS?
Diffuse ground glass lungs
Low volumes
Bell shaped throax
NRDS
CXR in TTN
Heart failure type pattern
Intersitital oedema
PLeural effusions
But normal heart size in contrast to congenital heart disease
TTN
Features of Surfactant lung disease?
Surfactant deficient lung disease (SDLD, also known as respiratory distress syndrome and previously as hyaline membrane disease) is a condition seen in premature infants. It is caused by insufficient surfactant production and structural immaturity of the lungs
The risk of SDLD decreases with gestation
50% of infants born at 26-28 weeks
25% of infants born at 30-31 weeks
Other risk factors for SDLD include
male sex
diabetic mothers
Caesarean section
second born of premature twins
Clinical features are those common to respiratory distress in the newborn, i.e. tachypnoea, intercostal recession, expiratory grunting and cyanosis
Chest x-ray characteristically shows ‘ground-glass’ appearance with an indistinct heart border
Mx of SDLD?
Management
prevention during pregnancy: maternal corticosteroids to induce fetal lung maturation
oxygen
assisted ventilation
exogenous surfactant given via endotracheal tube
How can primary, secondary and tertiary preventative measures be classified?
Preventive healthcare can be divided up into primary (preventing the accident/disease from happening), secondary (prevent injury from the accident/disease) and tertiary (limit the impact of the injury) prevention strategies
Contraindications to IFV immunisation in children?
Contraindications
immunocompromised
aged < 2 years
current febrile illness or blocked nose/rhinorrhoea
current wheeze (e.g. ongoing viral-induced wheeze/asthma) or history of severe asthma (BTS step 4)
egg allergy
pregnancy/breastfeeding
if the child is taking aspirin (e.g. for Kawasaki disease) due to a risk of Reye’s syndrome
A mother is concerned about the risk of her son developing influenza. Her son is fit and otherwise well. Following NHS immunisation guidance, at what age should the child first be offered the influenza vaccine?
3 months
4 months
12-13 months
2-3 years
65 years
2-3y
Suggestigve of constipation (>=2)
Stool pattern in Child
<1y
Fewer than 3 complete stools per week
hard large stool
Rabbit droppings
Stool pattern suggestigve of constipation (>=2)
>1y
Fewer than 3 complete stools per week
Overflow soiling (commonly very loose, very smelly and passed without sensation)
Rabbit droppings
Large, infrequent stools that can block toilet
Symptoms associated with defecation suggestigve of constipation (>=2)
<1y
Distress on passing stool
Bleeding associated with hard stool
Straining
Symptoms associated with defecation suggestigve of constipation (>=2)
>1y
Poor appetite that improves with passage of large stool
Waxing and waning of abdo pain with passage of stool
Evidence of tenetive posturing
Straining
Anal pain
Retentive posturing in examination?
Typical straight legged, tip toed, back arching
Hx suggestigve of constipation (>=2)
<1y
Previous episode of constipation
Previous or current anal fissure
Hx suggestigve of constipation (>=2)
>1y
Previous epsiode
Previous or currrent anal fissure
Painful BM and bleeding associated with hard stools
Causes of constipation
Idiopathic
Dehydration
Diet
Medication e.g. opiates
Anal fissure
Over-enthusiastic potty training
Hypothyroidism
Hirschsprung’s
Hypercalcaemia
LD
What timing indicates idiopathic constipation?
Starts after a few weeks of life
Obvious precipitating factors coinciding with the start of symptoms: fissure, change of diet, timing of potty/toilet training or acute events such as infections, moving house, starting nursery/school, fears and phobias, major change in family, taking medicines
What is a red flag in constipation relating to timing?
Reported from birth or first few weeks of life
Passage of meconium in idiopathic constipation?
<48h
Red flag in meconium passage?
>48h
Ribbon stools?
?Hirschprungs
Faltering growth in constipation?
Amber flag
Growth in idiopathic sontipation
Generally well
Weight and height within normal limits, fit and active
Red flag in constipation
Previously unkown or undiagnosed weakness in legs, locomotr delay
Improtant determinant in idiopathic constipation?
Changes in infant formula
Weaning
Insufficient fluid intake or poor diet
Abdominal distension in constipation?
Red flag symptom suggestive of underlying disorder
What features suggest fecal impaction?
Symptoms of severe constipation
Overflow soiling
Faecal mass palpable in abdomen (DRE should only be performed by specialist)
Mx of feacal impaction
Polyethylene glycoe 3350 + electroyles (using an escalating dose) is first line
Stimulant laxative can be addied if first line does not lead to disimpaction after 2 weeks.
Subsititue a stimulant laxative singly or in combination with an osmotic laxative such as lactulose if Movicol Paediatric plan is not tolerated.
Inform families that disimpaction treatment can initially increase symptoms of soiling and abdominal pain
What type of laxative is Movicol Plain?
Osmotic
Eg of a stimulant laxative?
Senna
Maintenance therapy in constipation
very similar to the above regime, with obvious adjustments to the starting dose, i.e.
first-line: Movicol Paediatric Plain
add a stimulant laxative if no response
substitute a stimulant laxative if Movicol Paediatric Plain is not tolerated. Add another laxative such as lactulose or docusate if stools are hard
continue medication at maintenance dose for several weeks after regular bowel habit is established, then reduce dose gradually
What type of laxative is lactulose?
Osmotic
Bulk forming laxatives?
ispaghula psyllium) husk, methylcellulose and sterculia
Osmotic laxatives
lactulose, macrogols, phosphate enemas and sodium citrate enemas.
Stimulant laxatives.
bisacodyl, docusate sodium, glycerol, senna andsodium picosulfate
General points in Mx of constipation?
General points
do not use dietary interventions alone as first-line treatment although ensure child is having adequate fluid and fibre intake
consider regular toileting and non-punitive behavioural interventions
for all children consider asking the Health Visitor or Paediatric Continence Advisor to help support the parents.
Mx of infants not yet weaned with constipation
bottle-fed infants: give extra water in between feeds. Try gentle abdominal massage and bicycling the infant’s legs
breast-fed infants: constipation is unusual and organic causes should be considered
Mx of infants with constipation that have or are being weaned
Infants who have or are being weaned
offer extra water, diluted fruit juice and fruits
if not effective consider adding lactulose
Exacerbations of chronic bronchitis
Amoxicillin or tetracycline or clarithromycin
Uncomplicated community-acquired pneumonia
Amoxicillin (Doxycycline or clarithromycin in penicillin allergic, add flucloxacillin if staphylococci suspected e.g. In influenza)
Pneumonia possibly caused by atypical pathogens
Clarithromycin
Hospital-acquired pneumonia
Within 5 days of admission: co-amoxiclav or cefuroxime
More than 5 days after admission: piperacillin with tazobactam OR a broad-spectrum cephalosporin (e.g. ceftazidime) OR a quinolone (e.g. ciprofloxacin)
Lower urinary tract infection
Trimethoprim or nitrofurantoin. Alternative: amoxicillin or cephalosporin
Acute pyelonephritis
Broad-spectrum cephalosporin or quinolone
Acute prostatitis
Quinolone or trimethoprim
Impetigo
Topical fusidic acid, oral flucloxacillin or erythromycin if widespread
Cellulitis
Flucloxacillin (clarithromycin or clindomycin if penicillin-allergic)
Erysipelas
Phenoxymethylpenicillin (erythromycin if penicillin-allergic)
Animal or human bite
Co-amoxiclav (doxycycline + metronidazole if penicillin-allergic)
Mastitis during breast-feeding
Flucloxacillin
Throat infections
Phenoxymethylpenicillin (erythromycin alone if penicillin-allergic)
Sinusitis
Amoxicillin or doxycycline or erythromycin
Otitis media
Amoxicillin (erythromycin if penicillin-allergic)
Otitis externa*
Flucloxacillin (erythromycin if penicillin-allergic)
*a combined topical antibiotic and corticosteroid is generally used for mild/moderate cases of otitis externa
Gonorrhoea
Intramuscular ceftriaxone + oral azithromycin
Chlamydia
Doxycycline or azithromycin
Pelvic inflammatory disease
Oral ofloxacin + oral metronidazole or intramuscular ceftriaxone + oral doxycycline + oral metronidazole
Syphilis
Benzathine benzylpenicillin or doxycycline or erythromycin
Bacterial vaginosis
Oral or topical metronidazole or topical clindamycin
Clostridium difficile
First episode: metronidazole
Second or subsequent episode of infection: vancomycin
Campylobacter enteritis
Clarithromycin
Salmonella (non-typhoid)
Ciprofloxacin
Shigellosis
Ciprofloxacin
Meningitis
Neonatal to 3 months
Group B Streptococcus: usually acquired from the mother at birth. More common in low birth weight babies and following prolonged rupture of the membranes
E. coli and other Gram -ve organisms
Listeria monocytogenes
Meningitis
1 month to 6 years
Neisseria meningitidis (meningococcus)
Streptococcus pneumoniae (pneumococcus)
Haemophilus influenzae
Meningitis
>6y
Neisseria meningitidis (meningococcus)
Streptococcus pneumoniae (pneumococcus)
Throat examination in Croup?
Should be avoided as it may precipitate airway obstruction
A newborn baby is transferred to the neonatal intensive care unit shortly after birth due to respiratory distress. An x-ray taken on arrival is shown below:
What is the diagnosis?
Bronchopulmonary dysplasia
Respiratory distress syndrome
Left-sided neonatal bronchiectasis
Congenital diaphragmatic hernia
Left pneumothorax
Bowel loops can be seen in the left side of the thoracic cavity.
Features of congenital diaphragmatic hernia
Occurs in 1:2000
Characterised by the herniation of abdominal viscera into the chest cavity due to incomplete formation of the diaphragm
Can result in pulmonary hypoplasia and HTN which causes RDS shortly after birth
Px for congenital diaphramatic hernia
50% survive despite intervention
What is the most common type of congenital diaphramatic hernia?
Bochdalek hernia
85% cases
Left sided, posterolateral
Features of:
Chickenpox
Fever initially
Rash starting on head/trunk before spreading
Initially macular, then papular, then vessciular
Normally mild systemic upset
Chicken pox
Features of measles
Prodrome: irritable, conjuncitivits, fever
Koplik spots
Rash starting behind ears, spreading to the whole body
Initially discrete maculopapular rash that becomes blotchy and confluent
Features of mumps
Fever, malaise, muscular pain
Parotitis initially unilateral becoming bilateral in 70%
Features of Rubella
Pink maculopapular rash initially on face before spreading to the whole body, usually faind by the 3-5th day
Suboccipital and postauricular lymphadenopathy
Rubella
Features of erythema infectiosum
AKA slapped cheek syndrome
Caused by parvovirus B19
Lethargy, fever, headache
Slapped cheek rash spreading to proximal arms and extensor surfaces
Erythema infectiosum
Features of Scarlet fever
Reaction to erythrogenci toxins produced by group A haemolytic strep
Fever, malaise, tonsilitis
Strawberry tongue
Fine punctate erythema sparing face
Scarlet Fever
Features of hand, foot and mouth disease
Caused by coxsackie A16 virus
Mild systemic upset: sore throat, fever
Vesciles in the mouth and on the palms and soles of the feet
Hand foot and mouth
Scarlet fever features
Scarlet fever is a reaction to erythrogenic toxins produced by Group A haemolytic streptococci (usually Streptococcus pyogenes). It is more common in children aged 2 - 6 years with the peak incidence being at 4 years.
Scarlet fever has an incubation period of 2-4 days and typically presents with:
fever
malaise
tonsillitis
‘strawberry’ tongue
rash - fine punctate erythema (‘pinhead’) which generally appears first on the torso and spares the face although children often have a flushed appearance with perioral pallor. The rash often has a rough ‘sandpaper’ texture. Desquamination occurs later in the course of the illness, particularly around the fingers and toes
Dx of scarlet fever
Throat swab usually taken but antibiotic treatment should be commenced immediately
Mx of scarlet fever
Oral penicillin V (penallergic: azithromycin)
Children can return to school 24h after commencing antibiotics
Notifiable disease
Cx of Scarlet fever?
Otitis media: most common
Rheumatic fever: typically 20d after infection
Acute GN
Autosomal recessive conditions
Autosomal recessive conditions are often thought to be ‘metabolic’ as opposed to autosomal dominant conditions being ‘structural’, notable exceptions:
some ‘metabolic’ conditions such as Hunter’s and G6PD are X-linked recessive whilst others such as hyperlipidemia type II and hypokalemic periodic paralysis are autosomal dominant
some ‘structural’ conditions such as ataxia telangiectasia and Friedreich’s ataxia are autosomal recessive
Inheritance:
Albinism
AR
Inheriance:
Congenital adrenal hyperplasia
AR
Inheritance:
Ataxia telangiectasia
AR
Inehritance: Familial Mediterranean fever
AR
Inheritance: Fanconi anaemia
AR
Inheritance: Friedreichs ataxia
AR
Inheritance: Gilber’ts
AR (although some textbooks will still say AD)
Glycogen storage disease inheritance
AR
Hamochromatosis inheritance
AR
Homocystinuria inheritance
AR
Lipid storage disease: Tay-Sach’s, Gaucher, Niemann-Pick
Inheritance
AR
Mucopolysaccharidoses: Hurler’s
Inheritance
AR
PKU inheritance
AR
Sickle cell inheritance
AR
Thalassaemia inheritance
AR
Wilson’s inheritance
AR
Characteristic symptoms in ADHD?
Extreme restlessness
Poor concentration
Uncontrolled activity
Impusliveness
Patau syndrome (trisomy 13)
Microcephalic, small eyes
Cleft lip/palate
Polydactyly
Scalp lesions
Edward’s syndrome (trisomy 18)
Micrognathia
Low-set ears
Rocker bottom feet
Overlapping of fingers
Fragile X
Learning difficulties
Macrocephaly
Long face
Large ears
Macro-orchidism
Noonan syndrome
Webbed neck
Pectus excavatum
Short stature
Pulmonary stenosis
Pierre-Robin syndrome*
*this condition has many similarities with Treacher-Collins syndrome. One of the key differences is that Treacher-Collins syndrome is autosomal dominant so there is usually a family history of similar problems
Micrognathia
Posterior displacement of the tongue (may result in upper airway obstruction)
Cleft palate
Prader-Willi syndrome
Hypotonia
Hypogonadism
Obesity
William’s syndrome
Short stature
Learning difficulties
Friendly, extrovert personality
Transient neonatal hypercalcaemia
Supravalvular aortic stenosis
Short stature
Learning difficulties
Friendly, extrovert personality
Transient neonatal hypercalcaemia
Supravalvular aortic stenosis
William’s syndrome
Hypotonia
Hypogonadism
Obesity
Prader-Willi syndrome
Micrognathia
Posterior displacement of the tongue (may result in upper airway obstruction)
Cleft palate
Pierre-Robin syndrome*
Webbed neck
Pectus excavatum
Short stature
Pulmonary stenosis
Noonan syndrome
Learning difficulties
Macrocephaly
Long face
Large ears
Macro-orchidism
Fragile X
Micrognathia
Low-set ears
Rocker bottom feet
Overlapping of fingers
Edward’s syndrome (trisomy 18)
Microcephalic, small eyes
Cleft lip/palate
Polydactyly
Scalp lesions
Patau syndrome (trisomy 13)
What is the difference between primary, secondary and tertiary prevention strategies?
Preventive healthcare can be divided up into primary (preventing the accident/disease from happening), secondary (prevent injury from the accident/disease) and tertiary (limit the impact of the injury) prevention strategies
What is the most common cause of childhood death in 1-15y/o?
Accidents
What Ixs should be performed in infants <3m old with fever?
FBC
Blood culture
CRP
Urine dip
CXR if respiratory signs are present
Stool culture if diarrhoea is present
What causes head lice?
Pediculosis capitis
What is the dx of head live?
Treatment only if living lice found
Malathion, wet combing, dimeticone, isopropyl myristate and cyclomethicone.
School exclusion is not advised
HAP Rx
Within 5d of admission: co amoxiclav or cefuroxime
>5d: piperacilline with tazobactam OR a broad-spectrum cephalosporin OR a quinolone
(provides pseudomonas cover)
Risk of DS by maternal age?
One way of remembering this is by starting at 1/1,000 at 30 years and then dividing the denominator by 3 (i.e. 3 times more common) for every extra 5 years of age
What 3 features must be present to dx autism?
All 3 of the following features must be present for a diagnosis to be made
global impairment of language and communication
impairment of social relationships
ritualistic and compulsive phenomena
What syndromes are assocaited with autism?
Fragile X
Rett’s
What are hte criteria for admission in bronchiolitis?
Apnoea (observed or reported)
Persistent oxygen saturation of <92% in air
Inadequate oral fluid intake (<50% of normal fluid intake)
Persisting severe respiratory distress, for example grunting, marked chest recession, or a respiratory rate of over 70 breaths/minute.
Ix of bronchiolitis?
Can be done using fluorescent Ab test on nasopharyngeal secretions
Mx of RSV
Admit if fulfils criteria
Deliver humidifed oxygen best through head box. Level can be determiend with pulse oximetry.
Fluids and feed may need to be given by NG tube or IV.
Only 5% require venitlation.
What is the most common cause of food poisoning in the UK?
Campylobacter.
<5y/o and >60 y/o are at greater risk
Features of campylobacter
Campylobacter is the commonest bacterial cause of infectious intestinal disease in the UK. The majority of cases are caused by the Gram-negative bacillus Campylobacter jejuni. It is spread by the faecal-oral route and has an incubation period of 1-6 days.
Features
prodrome: headache malaise
diarrhoea: often bloody
abdominal pain
Mx of Campylobacter
Usually self-limiting
BNF advises antibiotics if immunocompromised. CKS also advise antibiotics if severe symptoms (high fever, bloody diarrhoea, >8 stools/d).
First line antibiotic is clarithromycin
Cxs of campylobacter infection
GB syndrome
Reiter’s syndrome
Septicaemia, endocarditis, arthritis
A 2-year-old girl is brought to her GP because her mother has noticed she is constantly itching her bottom at night. Her mother says she has noticed some strange looking white bits when she wipes her daughters bottom following a bowel motion. What is the most appropriate management option?
Prescribe 14 days of daily miconazole for whole household and issue hygiene advice.
Issue hygiene advice only.
Prescribe a single dose of mebendazole for the daughter and issue hygiene advice.
Prescribe a single dose of mebendazole for the whole household and issue hygiene advice.
Prescribe topical clotrimazole for 2 weeks and issue hygiene advice.
This child is highly likely to have a threadworm infection with symptoms of perianal itching that is worse at night. It is also possible to see threadworms, described as small threads of slowly-moving white cotton either around the anus or in the stools.
The risk of transmission in families is as high as 75%, and asymptomatic infestation is common. For this reason an anthelmintic drug (mebendazole) should be given as a single dose to all household members.
Features of threadworm infection
Asymptomactic in 90%
Perianal itching, particulrly at night.
Girls may have vulval symptoms.
Dx can be made by applyoing sellotape to the perianal area and sending it to the laboratory for microscopy to identify the eggs.
First line antihelmintic for children >6m
mebendazole
Paediatric PLS
Unresponsive
Help
Open airway
Look, listen, feel for breathing
5 rescue breaths
Circulation?
15 chest compressions:2
What are hte contraindications to the MMR?
severe immunosuppression
allergy to neomycin
children who have received another live vaccine by injection within 4 weeks
pregnancy should be avoided for at least 1 month following vaccination
immunoglobulin therapy within the past 3 months (there may be no immune response to the measles vaccine if antibodies are present)
Adverse affects of the MMR
malaise, fever and rash may occur after the first dose of MMR. This typically occurs after 5-10 days and lasts around 2-3 days
A mother comes to surgery with her 6-year-old son. During the MMR scare she decided not to have her son immunised. However, due to a recent measles outbreak she asks if he can still receive the MMR vaccine. What is the most appropriate action?
Arrange for measles immunoglobulin to be given
Cannot vaccinate at this age as live vaccine
Give separate measles vaccine
Give MMR with repeat dose in 3 months
Give MMR with repeat dose in 5 years
The Green Book recommends allowing 3 months between doses to maximise the response rate. A period of 1 month is considered adequate if the child is greater than 10 years of age. In an urgent situation (e.g. an outbreak at the child’s school) then a shorter period of 1 month can be used in younger children.
Transient synovitis
Acute onset
Usually accompanies viral infections, but the child is well or has a mild fever
More common in boys, aged 2-12 years
Septic arthritis/osteomyelitis
Unwell child, high fever
Juvenile idiopathic arthritis
Limp may be painless
Trauma
History is usually diagnostic
Development dysplasia of the hip
Usually detected in neonates
6 times more common in girls
Perthes disease
More common at 4-8 years
Due to avascular necrosis of the femoral head
Slipped upper femoral epiphysis
10-15 years - Displacement of the femoral head epiphysis postero-inferiorly
Criteria for admission in sickle cell crisis?
Admit all people with clinical features of a sickle cell crisis to hospital unless they are:
A well adult who only has mild or moderate pain and has a temperature of 38°C or less.
A well child who only has mild or moderate pain and does not have an increased temperature.
This is based on the recommendation that a fever with no identified source associated with a sickle cell crisis needs bloods and cultures taken to look for the possible source of infection and early treatment as there is a higher risk of severe infections due to hyposplenism.
Consider admission if the person presents with a fever but is otherwise generally well.
Admission is not necessarily required if the source of infection is obvious (such as a viral illness) and can be managed in the community.
Have a low threshold for admission:
In a child.
If the person has a temperature over 38°C (as there is a risk of rapid deterioration).
If the person has chest symptoms (as acute chest syndrome may develop quickly).
Make sure that the person with chest symptoms and their family understand the importance of seeking urgent medical advice if their clinical state deteriorates, especially if breathing becomes faster or more laboured.
Whenever possible, admit the person to the specialist centre that has their records.
Management of sickle cell crises
Analgesia: opiates
Rehydrate
O2
Consider
antibiotics
Blood transfusion
Exchange transfusion e.g. if neurological complications
How can hypotonia be classified?
May be central or related to nerve and muscle problems.
Acutely ill child e.g. septicaemia may also be hypotonic on examination.
Hypotonia associated with encephalopathy in the newborn period is most likely caused by hypoxic ischaemic encephalopathy
Central causes of hypotonia?
DS
Prader Willi
Hypothyroid
Cerebal palsy- hypotonia may preced the development of spasticity
Neurological and muscular causes of hypotonia
Spinal muscular atrophy
Spina bifida
GB syndrome
MG
Muscular dystrophy
Myotonic dystrophy
myotonic dystrophy
Myotonic dystrophy (dystrophia myotonica, myotonia atrophica) is a chronic, slowly progressing, highly variable, inherited multisystemicdisease. It is an autosomal-dominant disease.It is characterized by wasting of the muscles (muscular dystrophy), cataracts, heart conduction defects, endocrine changes, and myotonia.[1]
There are two main types of myotonic dystrophy. Myotonic dystrophy type 1 (DM1), also called Steinert disease, has a severe congenital form and an adult-onset form. Myotonic dystrophy type 2 (DM2), also called proximal myotonic myopathy (PROMM) is rarer than DM1 and generally manifests with milder signs and symptoms. Myotonic dystrophy can occur in people of any age. Both forms of the disease display an autosomal-dominant pattern of inheritance. Both “DM1” and “DM2” have adult-onset forms.
Which one of the following statements regarding scabies is false?
All members of the household should be treated
Typically affects the fingers, interdigital webs and flexor aspects of the wrist in adults
Scabies causes a delayed type IV hypersensitivity reaction
Patients who complain of pruritus 4 weeks following treatment should be retreated
Malathion is suitable for the eradication of scabies
It is normal for pruritus to persist for up to 4-6 weeks post eradication
Features opf Scabies
Scabies is caused by the mite Sarcoptes scabiei and is spread by prolonged skin contact. It typically affects children and young adults.
The scabies mite burrows into the skin, laying its eggs in the stratum corneum. The intense pruritus associated with scabies is due to a delayed type IV hypersensitivity reaction to mites/eggs which occurs about 30 days after the initial infection.
Clinical features of scabies
Widespread prutirus
Linear burrows on the side of fingers, interdigital webs and flexor aspects of hte wrist.
Infants the face and scalp may be affected.
2o features are due to scratching excoriation, infection
Mx of scabies
Permethrin 5% is first line
Malathion is second line.
Guidance on use.
Pruritus persists 4-6w post eradication
When is crusted scabies seen?
Mx
Crusted scabies is seen in patients with suppressed immunity, especially HIV.
The crusted skin will be teeming with hundreds of thousands of organisms.
Ivermectin is the treatment of choice and isolation is essentia
Crusted (Norweigan) scabies
Risk factors for DDH
Female sex x6
Breech presentation
Positive Fhx
First born children
Oligohydramnios
Birthweight >5kg
Congenital calacenovalgus foot deformity
Barlow test
Barlow maneuver. (A) The leg is pulled forward and then (B) adducted in an attempt to dislocate the femur.
The Barlow test is a provocative maneuver used to diagnose a dislocatable hip. With the infant in a supine position, the hips are flexed to 90° and abducted. The thigh is grasped, and the leg is gently adducted while applying downward and lateral pressure (Fig 8A and B). A palpable clunk or movement indicates that the femoral head dislocates by sliding over the posterior rim of the acetabulum
Ortolani test
Ortolani maneuver. (A) Initial downward pressure further dislocates the hip, which then (B) relocates as the thigh is adducted. A palpable clunk will be noted
The Ortolani maneuver moves a dislocated hip back into the socket, creating a distinct, palpable sensation. To perform the Ortolani maneuver, place your index and middle fingers along the greater trochanter of the femur and your thumb along the inner thigh (Fig 7A and B). With the infant’s legs in a neutral position, flex the infant’s hips 90°. Gently abduct the hips while lifting forward on the femur. A positive Ortolani sign is noted if the hip is dislocated, by a characteristic clunk that is felt as the femoral head slides over the posterior rim of the acetabulum and is reduced
Confirmation of dx of DDH
USS
Mx of DDH
Most unstable hips will spontaneously stabilise by 3-6w
Pavlik harnesses in children younger than 3-5m
Older children may require sx
A 3-year-old girl presents with a 3 day history of fever and bloody diarrhoea. Over the past 24 hours she has had 5 episodes of loose bloody stools. On examination she has a temperature of 39.6ºC, a heart rate of 175 bpm and her abdomen is soft with generalised tenderness. It is also noted that she has a reduced urinary output. Blood tests show a haemolytic anaemia and raised urea.
What is the most likely diagnosis?
Campylobacter gastroenteritis
Salmonella gastroenteritis
Norovirus
Rotavirus
Escherichia coli gastroenteritis
A short history of bloody diarrhoea is very suggestive of haemorrhagic gastroenteritis which can occur due to a variety of pathogens including Campylobacter, Salmonella and Escherichia coli.
In this case, the haemolytic anaemia and raised urea suggest haemolytic uraemic syndrome. Haemolytic anaemia and renal failure form two parts of the classic triad of haemolytic uraemic syndrome. The third part of the triad is thrombocytopenia. It is usually caused by Escherichia coli subtype 0157. Treatment is supportive as antibiotics are contraindicated.
How can E Coli be classified?
`According to its antigens which may trigger an immune response
O: LPS
K: Capsule
H: Flagellin
What E Coli serotype usually causes Neonatal meningitis?
K-1 (capsular antigen)
A 9 year old boy is brought to the emergency department by ambulance. For approximately 24 hours he has had nausea and vomiting. However, he has now developed acute abdominal pain and when he arrives in the emergency department his breathing is laboured, deep and of a gasping nature. He is usually fit and well and is not prescribed any medication. Blood results show the following:
Na+130 mmol/l
K+3.5 mmol/l
HCO3-19 mmol/l
What is the likely cause?
Sepsis
Rotavirus
Intestinal obstruction
Meningitis
Diabetic ketoacidosis
The patient in this scenario has developed diabetic ketoacidosis (DKA). The important pieces of information to consider when answering this question are his acute presentation and the blood results.
This patient has presented to the emergency department with nausea, vomiting and acute abdominal pain. These are all symptoms of diabetic ketoacidosis. Furthermore, the laboured, deep breathing that is mentioned is Kussmaul’s breathing, which is witnessed in DKA and metabolic acidosis. Kussmaul’s breathing occurs whereby excess CO2 is exhaled as a compensatory mechanism for an increased blood pH. The recognition of Kussmauls breathing in this question is one of the major factors in getting this question correct, as you would not expect to see this phenomenon in the other 4 possible answers.
The blood results are concurrent with a diagnosis of DKA. Bloods will often show a hyponatraemia, low bicarbonate and a hypokalaemia in severe cases. The low bicarbonate in this question gives the indication that there is an acidosis in this patient, which helps in deriving the correct answer.
Taking into account all other answers, they each could explain some of the symptoms of this child. However, the low bicarbonate, his symptoms and Kussmaul’s respirations should lead to a working diagnosis of diabetic ketoacidosis in this patient.
Kussmaul’s breathing
laboured, deep breathing that is mentioned is Kussmaul’s breathing, which is witnessed in DKA and metabolic acidosis. Kussmaul’s breathing occurs whereby excess CO2 is exhaled as a compensatory mechanism for an increased blood pH
What are the most common precipitating factors for DKA?
Infection
Missed insulin
MI
Features of DKA
Abdo pain
Polyuria, polydipsia, dehydration
Kussmaul respiration
Acetone smelling breath
What are the causes of death in DKA?
Other complications?
Cerebral oedema
Hypokalaemia
Aspiration pneumonia
Hypoglycaemia
Hypokalaemia
Systemic infections
Appendicitis
Pulmonary oedema
Hyperosmolar hyperglycaemia non-ketotic coma
What are the criteria for DKA
Glucose >11 or known DM
pH <7.3
Bicarbonate <15mmol
Ketones >3mmol or ++ on dipstick
Mx of DKA
ABCD
Correct dehydration
Replace insulin
Replace potassium
Phosphate replacement
Anticoagulation
Once KA has resolved:
Continue IV fluids until patient is drinking and tolerating food
Change to subcut insuline once blood ketones <1mmol
Monitor until biochemistry has normalised
Correcting dehydration in DKA
Assess dehydration: ideally weigh patient.
Patients with <5% dehydration who are not clinically unwell can be given oral rehydration with subcut insulin.
If patient is severely dehydrated or schokled:
10ml/kg 0.9% saline as a bolus up to 30ml/kg
Calculate deficit and replace over 48h along with usual maintenance requirements using 500ml of 0.9% saline, initially contianing 20mmol KCl, which can be changed to 0.45% saline and 20mmol KCl once BG has fallen to 12-15 mmol
NB neonates may require larger volumes
Fluid replacement should be monitored as some patients may experience massive diuresis
Fluids in DKA
10ml/kg bolus 0.9% salin up to 30ml
Calculate deficit + maintenance
Over first 48h: 0.9% 500ml saline + 20mmol KCl until BG <15
Then 0.45% saline + 20mmol KCl
What can be used to clinically assess dehydration
CRT
Skin turgor
Respiratory pattern
Dry mucous membranes
Sunken eyes
Weak pulses
Cool peripheries
Hypotension and oliguria which are late signs in children
Mild dehydration
3%: only just clinically detectable
Moderate dehydration
5%: dry mucous membranes and reduced skin turgor
Severe dehydration
8%
As for 5% but with sunken eyes and prolonged CRT
Shocked in dehydration
Severely ill, with poor perfusion and thready rapid pulse
Hypotension is a late sign and is not always present
Replacing insulin in DKA
IV fluids and K replacement should occur 1-2h before starting.
Early insulin associated with increased chacnce of developing cerebral oedema
IV infusion at 0.1U/kg/h (can be 0.05U in younger children)
Aim is to reduce BG by <4mmol/h.
If the BG drops below 8mmol add a sideline of 10% glucose and titrate to 8-12mmol but do not decrease the insulin infusion.
Replacing K in DKA
Always depletion in total body potassium however initial serum values may not necessarily be low.
K replacement should be started if patient is hypokalaemic, if not it should be when insulin is started.
If the patient is hyperkalaemic, do not start replacement until U/O documented
Phosphate replacement in DKA
Phosphate loss can be aggravated by insulin therapy.
If associated with neurology, hypophosphataemia can be treated using K phosphate salts as an alternative to KCl
Anticoagulation in DKA
Femoral line insertion associated with femoral vein thrombosis and these patients must be anticoagulated.
May also be indicated in patients who are significantly hyperosmolar
Monitoring of DKA
Obs
Fluid blaance
ECG
CBG hourly
Capillary blood ketones 1-2hourly
Twice-daily weights
Bloods every 2-4hrs
Neurological investigations looking for indications of cerebral oedema.
Mx of suspected cerebral oedema
Mannitol 0.1-1g/kg IV immediately over 20 minutes.
Symptoms of cerebral oedema
Headache
Vomiting
Confusion or irritibaility
Rising BP and bradycardia
Decreased O2 saturation
Focal neurology
Papilloedema (late sign)
Risk factors for cerebral oedema
Younger age
New-onset DM
Longer duration of symptoms
Use of bicarbonate in management of KA
Treatment of cerebral oedema
Exclude hypoglycaemia
Mannitol
Reduce rate of fluid admin
Elevate head of the bed
Transfer to ICU
Cause of roseola infantum
AKA exanthem subitum
Common disease of infancy caused by HHV6.
Incubation period of 5-15d and affects children of 6m-2y
Features of roseola infantum
high fever: lasting a few days, followed by a
maculopapular rash
febrile convulsions occur in around 10-15%
diarrhoea and cough are also commonly seen
Potential complications of HHV6 infection
aseptic meningitis
hepatitis
Roseola infantum (HHV6)
Def: squint
Squint (strabismus) is characterised by misalignment of the visual axes. Squints may be divided into concomitant (common) and paralytic (rare)
Cause of concomitant squint
Due to imablance in extraocular muscles
Convergent is more common than divergent
Cause of paralytic squint
Due to paralysis of extraocular muscles
What is the corneal light reflection test
Used to identify squint
Hold light source 30cm from the child’s face
Mx of strabismus
Eye patches may prevent amblyopia
Referral to secondary care
Ambylopia
Amblyopia, also known as lazy eye, is a vision development disorder in which an eye fails to achieve normal visual acuity, even with prescription eyeglasses or contact lenses. Amblyopia begins during infancy and early childhood. In most cases, only one eye is affected.
What can be used to identify the nature of the squint
The cover test
Presentation of UTI in childhood
Infants: poor feeding, vomiting, irritability
Younger children: abdominal pain, fever, dysuria
Older: dysuria, frequency, haematuria
Features suggestive of upper UTI: T >38, loin pain/tenderness
Indications for checking urine in a nchild
Any symptoms suggestive
Unexplained fever of 38
Alternative site of infection who remain unwell
Collection of urine
Clean catch is preferrable
If not possible then urine colleciton pads should be used.
Suprapubic aspiration can be used if non-invasive methods are not possible
Mx of UTI
<3m: immediate referrl to paediatrirican
>3m with upper UT: consider admission, oral antibiotics including cephalosporin or co-amoxiclav should be given for 7-10m
Lower UTI: oral antibiotics for 3d according to local guidelines (trimethoprim, nitrofurantoin, cepahlosporin, amoxicillin)
Antibiotic prophylaxis not given after the first UTI but should be considered with recurrent UTIs
Features of seborrhoeic dermatitis
Seborrhoeic dermatitis is a relatively common skin disorder seen in children. It typically affects the scalp (‘Cradle cap’), nappy area, face and limb flexures.
Cradle cap is an early sign which may develop in the first few weeks of life. It is characterised by an erythematous rash with coarse yellow scales.
Mx of seborrhoeic dermatitis
Mild-moderate: baby shampoo and baby oils
Severe: mild topical steroids e.g. 1% hydrocortisone
Tends to resolve by 8m
Seborrhoeic dermatitis (cradle cap)
Def: anapylaxis
Anaphylaxis may be defined as a severe, life-threatening, generalised or systemic hypersensitivity reaction.
Causes of anaphylaxis in children
Common identified causes of anaphylaxis
food (e.g. Nuts) - the most common cause in children
drugs
venom (e.g. Wasp sting)
Dose in anaphylaxis
<6m
150microg adrenaline
25mg hydrocortisone
250ug/kg chlorphenamine
Dose in anaphylaxis
6m-6y
150microg adrenaline
50mg hydrocortisone
2.5mg chlorphenamine
Dose in anaphylaxis
6-12y
300 microg adrenaline
100mg hydrocortisone
5mg chlorphenamine
Dose in anaphylaxis
Adult and child >12
500ug adrenaline
200mg hydrocortisone
10mg chlorphenamine
Adrenaline in anaphylaxis
Can be repeated every 5 minutes if necessary
What is the best site for IM injection in children of adrenaline
Anterolateral aspect of the middle third of the thigh
Def: CMPI/CMPA
Cow’s milk protein intolerance/allergy (CMPI/CMPA) occurs in around 3-6% of all children and typically presents in the first 3 months of life in formula fed infants, although rarely it is seen in exclusively breastfed infants.
Both immediate (IgE mediated) and delayed (non-IgE mediated) reactions are seen. The term CMPA is usually used for immediate reactions and CMPI for mild-moderate delayed reactions.
Dx of cows milk protein intolerance/allergy
Often clinical (elimination of cow’s milk protein)
Skin prick/patch testing
Total IgE and specific IgE (RAST) for cow’s milk protein
Mx of cow’s milk protein intolerance/allergy
If FTT-> paediatirician
If formula fed:
Extensive hydrolysed formula milk is first line replacement for infants with mild-moderate symptoms
Amino-acid based formula in infants with severe CMPA or if no response to eHF
10% also intolerant to soy milk
If breast fed:
Continue breastfeeding
Eliminate cow’s milk protein from maternal diet
Use eHF milk when breast feeding stops until 12m of age and at least 6m
Usually resolves by 1-2y/o
Challenge often performed in hospital due to risk of anaphylaxis
A baby boy born 6 hours ago has an APGAR score of 10. He is not cyanosed, has a pulse of 140, cries on stimulation, his arms and legs resist extension and he has a good cry, He appears jaundiced. What is the most appropriate action?
Encourage the mother to sit with the baby in sunlight
Arrange a blood transfusion
Start phototherapy
Prescribe intravenous immunoglobulin
Measure and record the serum bilirubin level urgently.
Measure and record the serum bilirubin level urgently (within 2 hours) in all babies with suspected or obvious jaundice in the first 24 hours of life since this is likely to be pathological rather than physiological jaundice. NICE CG98
Jaundice <24h y/o
Always pathological
Causes of jaundice in the first 24h
Rhesus disease
ABO disease
Hereditary spherocytosis
G6PDD
Jaundice 2-14d
Common and usually physiological, commonly seen in breast fed babies
Causes of prolonged jaundice (>14d)
Biliary atresia
Hypothyroidism
Galactosaemia
HTI
Breast milk jaundice
Congenital infections e.g. CMV, toxoplasmosis
Raised conjugated bilirubin in prolonged jaundice?
Could indicate biliary atresia which requires urgent surgical intervention
Components of a prolonged jaundice screen
Conjugated and unconjugated bilirubin
DAAT
TFTs
FBC and blood film
urine for MC&S and reducing sugars
U&Es
LFTs
Features of growing pains
A common presentation in General Practice is a child complaining of pain in the legs with no obvious cause. Such presentations, in the absence of any worrying features, are often attributed to ‘growing pains’. This is a misnomer as the pains are often not related to growth - the current term used in rheumatology is ‘benign idiopathic nocturnal limb pains of childhood’
Growing pains are equally common in boys and girls and occur in the age range of 3-12 years.
Features of growing pains
never present at the start of the day after the child has woken
no limp
no limitation of physical activity
systemically well
normal physical examination
motor milestones normal
symptoms are often intermittent and worse after a day of vigorous activity
Daniel is a newborn who is having his baby check done by nurse Karen, who notices that he has microcephaly with a prominent occiput, low set ears, micrognathia, palpebral fissures and wide spaced eyes. What genetic disorder are these features suggestive of?
Edward’s syndrome
Down’s syndrome
Turner’s syndrome
Noonan syndrome
Angelman syndrome
The correct answer for this question is Edward’s syndrome.
All of the aforementioned characteristics can be present in Edward’s syndrome. Furthermore, individual’s with Edward’s syndrome can also have:
Ptosis
Rocker bottom feet
Undescended testes
Risk factors for SIDS
Most common at 3m of age
Prematurity
Parental smoking
Hyperthermia
Sleeping prone
Male sex
Multiple births
Bottle feeding
Social classes IV and V
Maternal drug use
Winter
Following cot death, siblings should be screened for potential sepsis and inborn errors of metabolism
Features of Achondroplasia
Achondroplasia is an autosomal dominant disorder associated with short stature. It is caused by a mutation in the fibroblast growth factor receptor 3 (FGFR-3) gene. This results in abnormal cartilage giving rise to:
short limbs (rhizomelia) with shortened fingers (brachydactyly)
large head with frontal bossing
midface hypoplasia with a flattened nasal bridge
‘trident’ hands
lumbar lordosis
Achondroplasia
Features of kawasaki’s disease
High-grade fever which lasts >5d and is characteristically resistant to antipyretics
Conjunctival injection
Bright red, cracked lips
Strawberry tongue
Cervical lymphadenopathy
Red plams of the hands and the soles of the feet which alter peel
Kawasaki disease
Mx of kawasaki
High dose aspirin
IVIG
Echocardiogram as screening test for coronary artery aneurysm
Cx of kawasaki
Coronary artery aneurysm
An 8-year-old boy presents with increasing jaundice over the past week. He was recently treated with nitrofurantoin for a simple urinary tract infection. On examination he is obviously jaundiced, and he is looking pale and breathless. Investigation results are as follows:
Hb58 g/l
Platelets250 * 109/l
WBC6.5 * 109/l
A blood films demonstrates red cell fragments and Heinz bodies.
What is the most likely diagnosis?
Pyruvate kinase deficiency
Sickle cell disease
Glucose-6-phosphate dehydrogenase deficiency
Beta-thalassaemia
Hereditary spherocytosis
Glucose-6-phosphate dehydrogenase deficiency is an X linked disorder affecting red cell enzymes. It results in a reduced ability of the red cells to respond to oxidative stress. Therefore, red cells have a shorter life span and are more susceptible to haemolysis, particularly in response to drugs (e.g. nitrofurantoin), infection, acidosis and certain dietary agents (e.g. fava beans).
The red cell fragments, Heinz bodies and anaemia confirm a haemolytic anaemia.
Features of G6PD
Features
neonatal jaundice is often seen
intravascular haemolysis
gallstones are common
splenomegaly may be present
Heinz bodies on blood films
Dx of G6PD
Enzyme assay
Drugs thought to be safe in G6PD
Some drugs thought to be safe
penicillins
cephalosporins
macrolides
tetracyclines
trimethoprim
Inheritance of G6PD
X-linked recessive
Inheritance of HS
Male+female AD
Fraser guidelines
The following points should be fulfilled:
the young person understands the professional’s advice
the young person cannot be persuaded to inform their parents or allow the professional to contact them on their behalf
the young person is likely to begin, or continue having, sexual intercourse with or without contraceptive treatment
unless the young person receives contraceptive treatment, their physical or mental health, or both, is likely to suffer
the young person’s best interests require them to receive contraceptive advice or treatment with or without parental consent
A 6-year-old boy is reviewed in clinic due to nocturnal enuresis. His mother has tried using a star-chart but unfortunately this has not resulted in any significant improvement. Of the following options, what is the most appropriate initial management strategy?
Enuresis alarm
Trial of oral desmopressin
Trial of imipramine
Trial of intranasal desmopressin
Restrict fluids in the afternoon and evening
Restricting fluids is not recommended advice - Clinical Knowledge Summaries suggest: ‘Do not restrict fluids. The child should have about eight drinks a day, spaced out throughout the day, the last one about 1 hour before bed.’
Enuresis alarm
Def: enuresis
Involuntary discharge of urine by day or night or both in any child aged >5 in the absence of congenital or acquired defects of the nervous system of the urinary tact
Can be primary or secondary (dry for at least 5 months before)
Mx of Nocturnal enuresis
Look for possible underlying causes/triggers: constipation, DM, UTI
Advise on fluid intake
Reward systems e.g. star charts
Enuresis alarm for children <7
Desmopressin may be used if >7y particulalry if ST control is needed or an enuresis alarm has been ineffective
Mx of meningitis
ABCD approach
- Antibiotics
- Steroids if >1m and H influenzae, dexamehtasone
- Fluids e.g. colloid
- Cerebral monitoring
- PH notification and antibiotic prophlyaxis of contacts- rifampicin
Antibiotics in childhood meningitis
<3m: IV amoxicillin and IV cefotaxime
>3m: IV cefotaxime
Used for antibiotic prophylaxis of contacts to child with meningitis?
Rifampicin
For patients with meningococcal septicaemia, LP?
Is contraindicated, blood cultures and PCR for meningococcus should be obtained
Contraindications to LP
Signs of raised ICP
Focal neurology
Papilloedema
Bulging of the fontanelle
DIC
Signs of cerebral herniation
Henry is a 29 week premature baby who was born 2 weeks ago. Over the past week it has been noted that he has had bloody stool, abdominal distension and has not been feeding well. Physical examination reveals an increased abdominal girth with reduced bowel sounds. Abdominal X-ray shows dilated asymmetrical bowel loops and bowel wall oedema. What is the likely diagnosis?
Intussusception
Inflammatory bowel disease
Pyloric stenosis
Hirschsprung’s disease
Necrotising enterocolitis
The correct answer for this question is necrotising enterocolitis.
AXR findings in NEC
dilated bowel loops (often asymmetrical in distribution)
bowel wall oedema
pneumatosis intestinalis (intramural gas)
portal venous gas
pneumoperitoneum resulting from perforation
air both inside and outside of the bowel wall (Rigler sign)
air outlining the falciform ligament (football sign)
Features of NEC
Necrotising enterocolitis is one of the leading causes of death among premature infants. Initial symptoms can include feeding intolerance, abdominal distension and bloody stools, which can quickly progress to abdominal discolouration, perforation and peritonitis.
You see a worried mum with her 6 month old baby boy. She is concerned that his skull shape is not normal. His development and birth have been normal and there are no conditions in the family. On examination his head circumference is at the 40th centile with his height and weight at the 30th centile. His occiput is flattened on the left, his left ear mildly protruding forward and his left forehead more prominent than the right. No other abnormality is detected. What is the most appropriate management?
Urgent referral to neurosurgery
Suggest buying an infant helmet
Arrange an MRI scan
Routine referral to community child health clinic
Reassurance
Plagiocephaly is more common since there have been campaigns to encourage babies to sleep on their back to reduce the risk of sudden infant death syndrome (SIDS). Plagiocephaly is a skull deformity producing unilateral occipital flattening, which pushes the ipsilateral forehead ear forwards producing a ‘parrallelogram’ appearance. The vast majority improve by age 3-5 due to the adoption of a more upright posture. Helmets are not usually recommended as there was no significant difference between groups in a randomised controlled trial. Turning the cot around may help the child look the other way and take the pressure off the one side. Other simple methods include giving the baby time on their tummy during the day, supervised supported sitting during the day, and moving toys/ mobiles around in the cot to change the focus of attention. Ensure all advice is in line with prevention of SIDS.
Plagiocephaly
parallelogram shaped head
the incidence of plagiocephaly has increased over the past decade. This may be due to the success of the ‘Back to Sleep’ campaign
Craniosynostosis
premature fusion of skull bones
A 4-year-old boy was discharged from the hospital six weeks ago after an episode of viral gastroenteritis. He now has 4-5 loose stools each day which has been present for the past four weeks.
What is the most likely diagnosis?
Coeliac disease
Inflammatory bowel disease
Secondary bacterial infection
Lactose intolerance
Clostridium difficile infection
Transient lactose intolerance is a common complication of viral gastroenteritis. Removal of lactose from the diet for a few months followed by a gradual reintroduction usually resolves the problem.
Gastroenteritis
main risk is severe dehydration
most common cause is rotavirus - typically accompanied by fever and vomiting for the first 2 days. The diarrhoea may last up to a week
treatment is rehydration
Causes of chronic diarrhoea in infants
most common cause in the developed world is cows’ milk intolerance
toddler diarrhoea: stools vary in consistency, often contain undigested food
coeliac disease
post-gastroenteritis lactose intolerance
Which one of the following statements regarding cerebral palsy is incorrect?
It is the most common cause of major motor impairment in children
Less than 5% of children will have epilepsy
It affects 2 in 1,000 live births
20% of children have hearing impairment
Postnatal factors account for 10% of cases
Around 30% of children with cerebral palsy have epilepsy
Def: Cerebal palsy
Cerebral palsy may be defined as a disorder of movement and posture due to a non-progressive lesion of the motor pathways in the developing brain. It affects 2 in 1,000 live births and is the most common cause of major motor impairment
Possible manifestations of cerebal palsy
Abnormal tone in early infancy
Delayed motor milestones
Abnormal gait
Feeding difficulties
Non-motor problems associated with cerebal palsy
learning difficulties (60%)
epilepsy (30%)
squints (30%)
hearing impairment (20%)
Causes of cerebal palsy
antenatal (80%): e.g. cerebral malformation and congenital infection (rubella, toxoplasmosis, CMV)
intrapartum (10%): birth asphyxia/trauma
postnatal (10%): intraventricular haemorrhage, meningitis, head-trauma
Classification of cerebal palsy
Spastic (70%0: hemiplegia, diplegia or quadriplegia
Dyskinetic
Ataxic
Miced
Mx of cerebal palsy
MDT
Spasticity: oral diazepam, oral and intrathecal baclofen, botulinum toxin type A. orthopaedic surgery
Anticonvulsants, analgesia PRN
What is the most common cause of nappy rash
Irritant dermatitis
Irritant dermatitis
The most common cause, due to irritant effect of urinary ammonia and faeces
Creases are characteristically spared
Irritant dermatitis
Candida dermatitis
Typically an erythematous rash which involve the flexures and has characteristic satellite lesions
Typically an erythematous rash which involve the flexures and has characteristic satellite lesions
Seborrhoeic dermatitis
Erythematous rash with flakes. May be coexistent scalp rash
Mx Nappy rash
General management points
disposable nappies are preferable to towel nappies
expose napkin area to air when possible
apply barrier cream (e.g. Zinc and castor oil)
mild steroid cream (e.g. 1% hydrocortisone) in severe cases
A 1-year-old girl is investigated for recurrent urinary tract infections. A micturating cystourethrogram is ordered:
What does this image demonstrate?
Vesicoureteric reflux
Horseshoe kidney
Paediatric urolithiasis
Duplex collecting system
Isolated right-sided hydronephrosis
This image demonstrates grade V vesicoureteric reflux - gross dilatation of the ureter, pelvis and calyces with ureteral tortuosity. A DMSA scan is needed to identify renal scarring.
Def: VUR
Vesicoureteric reflux (VUR) is the abnormal backflow of urine from the bladder into the ureter and kidney. It is relatively common abnormality of the urinary tract in children and predisposes to urinary tract infection (UTI), being found in around 30% of children who present with a UTI. As around 35% of children develop renal scarring it is important to investigate for VUR in children following a UTI
Pathophysiology of VUR
Pathophysiology of VUR
ureters are displaced laterally, entering the bladder in a more perpendicular fashion than at an angle
therefore shortened intramural course of ureter
vesicoureteric junction cannot therefore function adequately
Grade I VUR
Into uretur only, no dilatation
Grade II VUR
Into renal pelvis on micturition, no dilatation
Grade III VUR
Mild/moderate dilatation of the uretur, renal pelvis and calyces
Grade IV VUR
Dilatation of the renal pelvis and calyces with moderate ureteral tortuosity
Grade V VUR
Gross dilatation of the uretur, pelvis and calyces with ureteral tortuosity
Ix in VUR
Normally following a micturating cystourethrogram
DMSA scan may be performed to look for renal scarring
Features of bronchiolitis
Bronchiolitis is a condition characterised by acute bronchiolar inflammation. Respiratory syncytial virus (RSV) is the pathogen in 75-80% of cases. SIGN released guidelines on bronchiolitis in 2006. Please see the link for more details.
Epidemiology
most common cause of a serious lower respiratory tract infection in < 1yr olds (90% are 1-9 months, with a peak incidence of 3-6 months). Maternal IgG provides protection to newborns against RSV
higher incidence in winter
coryzal symptoms (including mild fever) precede:
dry cough
increasing breathlessness
wheezing, fine inspiratory crackles (not always present)
feeding difficulties associated with increasing dyspnoea are often the reason for hospital admission
Bronchiolitis
Pathogens in bronchiolitis
respiratory syncytial virus (RSV) is the pathogen in 75-80% of cases
other causes: mycoplasma, adenoviruses
may be secondary bacterial infection
more serious if bronchopulmonary dysplasia (e.g. Premature), congenital heart disease or cystic fibrosis
Def: Surfactant lung disease
Surfactant deficient lung disease (SDLD, also known as respiratory distress syndrome and previously as hyaline membrane disease) is a condition seen in premature infants. It is caused by insufficient surfactant production and structural immaturity of the lungs
Risk of SDLD at 26-28w
50%
Risk of SDLD at 30-31w
25%
Other risk factors apart from gestation for SDLD
Male sex
Diabetic mothers
C sec
Second born of premature twins
Clinical features of SDLD
Tachypnoea
Intercostal recession
Expiratory grunting
Cyanosis
Mx of SDLD
Maternal corticosteroids
O2
Assisted ventilation
Exogenous surfactant given via endotracheal tube
A 15-year-old boy presents to his GP complaining of knee pain for one week. He has no significant past medical history. Which of the following would make a diagnosis of Osgood-Schlatter disease more likely?
Bilateral knee pain.
Sudden onset of symptoms and acutely painful.
Knee pain isolated to the posterior aspect of the knee joint.
Pain relieved by rest and made worse by kneeling and activity, such as running or jumping.
Locking of the knee on movement.
Osgood-Schlatter disease may be diagnosed on the basis of clinical features alone. This age group (adolescent) is the most likely age to suffer from this condition and is localized to the tibial tuberosity.
Typically, pain is:
Unilateral (but may be bilateral in up to 30% of people).
Gradual in onset and initially mild and intermittent, but may progress to become severe and continuous.
Relieved by rest and made worse by kneeling and activity, such as running or jumping.
Chondromalacia patellae
Softening of the cartilage of the patella
Common in teenage girls
Characteristically anterior knee pain on walking up and down stairs and rising from prolonged sitting
Usually responds to physiotherapy
Osgood-Schlatter disease
(tibial apophysitis)
Seen in sporty teenagers
Pain, tenderness and swelling over the tibial tubercle
Osteochondritis dissecans
Pain after exercise
Intermittent swelling and locking
Patellar subluxation
Medial knee pain due to lateral subluxation of the patella
Knee may give way
Patellar tendonitis
More common in athletic teenage boys
Chronic anterior knee pain that worsens after running
Tender below the patella on examination
When is Guthrie test performed?
5-9d of life
What conditions are included on Guthrie test?
Congenital hypothyroidism
CF
PKU
SCD
MCADD
Features of strawberry naevi
Strawberry naevi (capillary haemangioma) are usually not present at birth but may develop rapidly in the first month of life. They appear as erythematous, raised and multilobed tumours.
Typically they increase in size until around 6-9 months before regressing over the next few years (around 95% resolve before 10 years of age).
Common sites include the face, scalp and back. Rarely they may be present in the upper respiratory tract leading to potential airway obstruction
Capillary haemangiomas are present in around 10% of white infants. Female infants, premature infants and those of mothers who have undergone chorionic villous sampling are more likely to be affected
Cx of strawberrys naevi
Mechanical: e.g. obstructing visual fields or airway
Bleeding
Ulceration
Thrombocytopenia
Mx of strawberry naevi
Most spontaneously resolve
If treatment required can use propranolol
What is a cavernous haemangioma?
Deep capilalry haemangioma
Strwaberry naevus
Cavernous haemangioma
Cavernous hemangioma, also calledcavernous angioma, or cerebral cavernoma (when referring to presence in the brain)[1] is a type of blood vessel malformation or hemangioma, where a collection of dilated blood vessels form abenign tumor. Because of this malformation, blood flow through the cavities, or caverns, is slow. Additionally, the cells that form the vessels do not form the necessary junctionswith surrounding cells. Also, the structural support from the smooth muscle is hindered, causing leakage into the surrounding tissue. It is the leakage of blood, known as a hemorrhage from these vessels that causes a variety of symptoms known to be associated with this disease.
What are the innocent murmurs heard in children?
Ejection murmurs
Venous hum
Still’s murmur
Ejection murmur
Due to turbulent blood flow at the outflow tract of the heart
Venous hum
Heard as a continuous blowing noise just below the clavicles
Due to turbulent blood flow in the great veins
Still’s murmur
Low-pitched sound heard at the lower left sternal edge
Characteristics of an innocent murmur
Soft blowing murmur in the pulmonary area or short buzzing murmur in the aortic area
May vary with posture
No radiation
No diastolic component
No thrill
No added sounds e.g. clicks
Asymptomatic child
No other abnormality
A 2-year-old boy is brought to the surgery by his mother with earache and pyrexia. On examination of the precordium a murmur is heard. Which one of the following characteristics is not consistent with an innocent murmur?
Short buzzing murmur in the aortic area
Soft-blowing murmur in the pulmonary area
Varies with posture
Diastolic murmur
Continuous blowing noise heard just below the clavicles
Diastolic murmur
Draw neonatal resscitation
Draw basic PLS
Ratio of chest compression in neonate?
3:1
Ratio of chest compressions in paediatric
5 initial breaths then 15:1
Def: Perthes disease
Perthes disease is a degenerative condition affecting the hip joints of children, typically between the ages of 4-8 years. It is due to avascular necrosis of the femoral head
Perthes disease is 5 times more common in boys. Around 10% of cases are bilateral
Features of Perthes disease
Hip pain: develops progressively over a few weeks
Limp
Stiffness and reduced range of movement
XR: early changes include joint space widening. Decreased femoral head size/flattening
Cx of Perthes
Osteoarthritis
Premature fusion of the growth plates
Perthes disease
Bilateral avascular necrosis of the femoral heads
Draw the nephritic and the nephrotic syndromes
Which one of the following types of glomerulonephritis is most characteristically associated with streptococcal infection in children?
Focal segmental glomerulosclerosis
Diffuse proliferative glomerulonephritis
Membranous glomerulonephritis
Mesangiocapillary glomerulonephritis
Rapidly progressive glomerulonephritis
Diffuse proliferative glomerulonephritis
Rapidly progressive glomerulonephritis - aka crescentic glomerulonephritis
rapid onset, often presenting as acute kidney injury
causes include Goodpasture’s, ANCA positive vasculitis
IgA nephropathy - aka Berger’s disease, mesangioproliferative GN
typically young adult with haematuria following an URTI
Diffuse proliferative glomerulonephritis
classical post-streptococcal glomerulonephritis in child
presents as nephritic syndrome / acute kidney injury
most common form of renal disease in SLE
Membranoproliferative glomerulonephritis (mesangiocapillary)
type 1: cryoglobulinaemia, hepatitis C
type 2: partial lipodystrophy
Minimal change disease
typically a child with nephrotic syndrome (accounts for 80%)
causes: Hodgkin’s, NSAIDs
good response to steroids
Membranous glomerulonephritis
presentation: proteinuria / nephrotic syndrome / chronic kidney disease
cause: infections, rheumatoid drugs, malignancy
1/3 resolve, 1/3 respond to cytotoxics, 1/3 develop chronic kidney disease
Focal segmental glomerulosclerosis
may be idiopathic or secondary to HIV, heroin
presentation: proteinuria / nephrotic syndrome / chronic kidney disease
Features of absence seizures
Absence seizures (petit mal) are a form of generalised epilepsy that is mostly seen in children. The typical age of onset of 3-10 years old and girls are affected twice as commonly as boys
Features
absences last a few seconds and are associated with a quick recovery
seizures may be provoked by hyperventilation or stress
the child is usually unaware of the seizure
they may occur many times a day
EEG: bilateral, symmetrical 3Hz spike and wave pattern
Mx of absence seizures
sodium valproate and ethosuximide are first-line treatment
good prognosis - 90-95% become seizure free in adolescence
Live attenuated vaccines
BCG
measles, mumps, rubella (MMR)
influenza (intranasal)
oral rotavirus
oral polio
yellow fever
oral typhoid*
A mother brings her 3-year-old child in to receive the DTP booster. Which one of the following would make it inappropriate to give the vaccination today?
Being below the 2nd centile for weight
Family history of allergy to DTP
Recent onset of a seizure disorder currently being investigated
Planned general anaesthesia in 2 weeks time
Being born at 29 weeks gestation
DTP: vaccination should be deferred in children with an evolving or unstable neurological condition
General contraindications to immunisation
confirmed anaphylactic reaction to a previous dose of a vaccine containing the same antigens
confirmed anaphylactic reaction to another component contained in the relevant vaccine (e.g. egg protein)
Situations where vaccines should be delayed
febrile illness/intercurrent infection
Contraindications to live vaccines
pregnancy
immunosuppression
What are the most common causes of hearing problems in children?
Conductive
secretory otitis media
Down’s syndrome*
Sensorineural
hereditary - Usher syndrome, Pendred syndrome, Jervell-Lange-Nielson syndrome, Wardenburg syndrome
congenital infection e.g. rubella
acquired - meningitis, head injury
cerebral palsy
perinatal insult
16-year-old boy presents to the emergency room with a history of groin pain for the past three hours. He has associated nausea and has vomited three times. He reports that he recently had unprotected vaginal sex. On examination there is tenderness and swelling of the scrotum and left testicle, with absence of the cremaster reflex on the left side. Elevation of the affected testicle causes increased pain.
What is the most likely diagnosis?
Torsion of the hydatid of Morgagni
Strangulated inguinal hernia
Epididymitis
Testicular torsion
Hydrocoele
Testicular torsion occurs when the testis turns on the remnant of the processus vaginalis thereby restricting blood flow. It usually presents with acutely severe testicular pain often with associated nausea and vomiting. There may be swelling of the testis with overlying erythema. The cremaster reflex may also be absent on the affected side. Elevation of the testicle often results in worsening of the pain.
Although this patient recently had unprotected sex, the history is less suggestive of epididymitis. With epididymitis we would expect urinary symptoms. In addition, elevation of the testes often relieves the pain (Prehn’s sign positive).
Ddx in acute scrotal disorder
Torsion
Irreducible inguinal hernia
Epididymitis
What is a positive Prehn’s sign
Elevation of the testes relieving pain.
Seen in epididymitis
Infants and nappies
Should have at least 6 heavy wet nappies in 24h
Molluscum contagiosum
Typical presentation of molluscum contagiosum
Typically, molluscum contagiosum presents with characteristic pinkish or pearly white papules with a central umbilication, which are up to 5 mm in diameter. Lesions appear in clusters in areas anywhere on the body (except the palms of the hands and the soles of the feet). In children, lesions are commonly seen on the trunk and in flexures, but anogenital lesions may also occur. In adults, sexual contact may lead to lesions developing on the genitalia, pubis, thighs, and lower abdomen. Rarely, lesions can occur on the oral mucosa and on the eyelids.
At what age do the majority of children achieve day and night time urinary continence?
2-3 years old
3-4 years old
4-5 years old
5-6 years old
6-7 years old
The majority of children achieve day and night time continence by 3 or 4 years of age
A jittery and hypotonic baby may suggest
neonatal hypoglycaemia.
You are called to the post natal ward to review an 8 hour old baby born by elective caesarian section at 39 weeks gestation. After reading the case notes you discover the use of maternal labetalol for high blood pressure. On examination the baby appears jittery and hypotonic. What is the most appropriate next step?
Record temperature and ensure adequately wrapped
Perform full septic screen
Measure blood glucose levels
Start empirical antibiotics for early onset sepsis
Re-examine after next feed
A jittery and hypotonic baby may suggest neonatal hypoglycaemia. The use of maternal labetalol is a risk factor and these babies must have their blood glucose measured. Neonatal abstinence syndrome may also present in this way and so the use of maternal opiates or illicit drug use in pregnancy should also be ascertained.
Causes of neonatal hypoglycaemia
Maternal DM
Prematurity
IUGR
Hypothermia
Neonatal sepsis
Inborn errors of metbolism
Nesidioblastosis
Nesidioblastosis
Nesidioblastosis is a controversial medical term for hyperinsulinemic hypoglycemiaattributed to excessive function ofpancreatic beta cells with an abnormalmicroscopic appearance. The term was coined in the first half of the 20th century. The abnormal histologic aspects of the tissue included the presence of islet cell enlargement, islet cell dysplasia, beta cells budding from ductal epithelium, and islets in apposition to ducts.
Developmental milestones: speech and hearing
3 months
Quietens to parents voice
Turns towards sound
Squeals
Developmental milestones: speech and hearing
6m
Double syllables: adah, erleh
Developmental milestones: speech and hearing
9m
Mama, Dada
understands no
Developmental milestones: speech and hearing
12m
Responds to own name
Developmental milestones: speech and hearing
12-15m
Knows about 2-6 words
Refer at 18m
Understands simple commands
Developmental milestones: speech and hearing
2y
Combine 2 words
Points to parts of the body
Developmental milestones: speech and hearing
2.5t
Vocabulary of 200w
Developmental milestones: speech and hearing
3y
Talks in short sentences (3-5w)
Asks what and who questions
Identifies colours
Counts to 10
Developmental milestones: speech and hearing
4y
Asks why, when and how questions
What are the criteria for sending a child with an acute limp for urgen assesment?
<3
>8 with painful or restricted hip movements (in particular internal rotation) to exclude SUFE
Is unable to weight bear
Has fever and or red flags suggesting serious pathology: pain waking them at night, fatigue, anorexia, weight loss, night sweats
In severe pain, agitated or has reduced peripheral pulses or muscle weakness that may indicate neurovascular compromise or impending compartment syndrome
?Maltreatment
Transient synovitis
Acute onset
Usually accompanies viral infections, but the child is well or has a mild fever
More common in boys, aged 2-12 years
Septic arthritis/osteomyelitis
Unwell child, high fever
Juvenile idiopathic arthritis
Limp may be painless
Slipped upper femoral epiphysis
10-15 years - Displacement of the femoral head epiphysis postero-inferiorly
On routine antenatal swabs, a mother is found to be colonised with Group B Streptococcus. However, she did not receive adequate intrapartum antibiotic prophylaxis and she delivers a healthy baby girl by vaginal delivery. Her baby does not require any resuscitation and remains well in the post natal ward. The mother is eager for discharge home. What is the most appropriate course of action with regards to her child?
Intravenous antibiotics for 24 hours
Check C-Reactive protein levels and take blood cultures
Discharge if no suspicion of infection
Perform routine 6 hour post natal check and discharge with community midwife follow up.
Regular observations for 24 hours
Maternal colonisation with group B streptococcus is a minor risk factor for early onset sepsis in the newborn. Newborns with only one minor risk factor for early onset sepsis should remain in hospital for at least 24 hours with regular observations. Two or more minor risk factor or one red flag warrant empirical antibiotic therapy with Benzylpenicillin and Gentamicin and a full septic screen.
Red flags for GBS infection
Suspected or confirmed infection in another baby in the case of a multiple pregnancy
Parenteral antibiotic treatment given to the woman for confirmed or suspected invasive bacterial infection (such as septicaemia) at any time during labour, or in the 24-hour periods before and after the birth [This does not refer to intrapartum antibiotic prophylaxis]
Respiratory distress starting more than 4 hours after birth
Seizures
Need for mechanical ventilation in a term baby
Signs of shock
A 9-year-old girl is brought to surgery as her mother is concerned that she is too fat. This has now been a problem for over two years and mum feels this is holding her back at school. What is the most appropriate method to ascertain how obese she is?
Body mass index
Body mass index percentile adjusted to age and gender
Weight plotted on percentile chart
Mother’s perception
Waist circumference
Defining obesity is more difficult in children than adults as body mass index (BMI) varies with age. BMI percentile charts are therefore needed to make an accurate assessment. Recent NICE guidelines suggest to use ‘UK 1990 BMI charts to give age- and gender-specific information’
Assessment of obese child
NICE recommend
consider tailored clinical intervention if BMI at 91st centile or above.
consider assessing for comorbidities if BMI at 98th centile or above
Causes of obesity in children
Lifestyle
growth hormone deficiency
hypothyroidism
Down’s syndrome
Cushing’s syndrome
Prader-Willi syndrome
Consequences of obesity in children
Consequences of obesity in children
orthopaedic problems: slipped upper femoral epiphyses, Blount’s disease (a development abnormality of the tibia resulting in bowing of the legs), musculoskeletal pains
psychological consequences: poor self-esteem, bullying
sleep apnoea
benign intracranial hypertension
long-term consequences: increased incidence of type 2 diabetes mellitus, hypertension and ischaemic heart disease
Features of Acne vulgaris
Acne vulgaris is a common skin disorder which usually occurs in adolescence. It typically affects the face, neck and upper trunk and is characterised by the obstruction of the pilosebaceous follicle with keratin plugs which results in comedones, inflammation and pustules.
Epidemiology
affects around 80-90% of teenagers, 60% of whom seek medical advice
acne may also persist beyond adolescence, with 10-15% of females and 5% of males over 25 years old being affected
Pathophysiology of acne vulgaris
follicular epidermal hyperproliferation resulting in the formation of a keratin plug. This in turn causes obstruction of the pilosebaceous follicle. Activity of sebaceous glands may be controlled by androgen, although levels are often normal in patients with acne
colonisation by the anaerobic bacterium Propionibacterium acnes
inflammation
What are the referral points in developmental problems
Referral points
doesn’t smile at 10 weeks
cannot sit unsupported at 12 months
cannot walk at 18 months
Hand preference before 12m?
Is abnormal and may indicate cerebal palsy
Gross motor problems most common causes?
Variant of normal
CP
Neuromuscular disorders
Speech and language problems, causes
Check hearing
Environmental deprivation
General developmental delay
Def: febrile convulsions
Febrile convulsions are seizures provoked by fever in otherwise normal children. They typically occur between the ages of 6 months and 5 years and are seen in 3% of children
Clinical features of febrile convulsions
usually occur early in a viral infection as the temperature rises rapidly
seizures are usually brief, lasting less than 5 minutes
may be generalised tonic or tonic-clonic
Px following febrile convulsion
risk of further febrile convulsion = 1/3 (higher if family history)
if recurrences, try teaching mother how to use rectal diazepam
if no focal signs + lasts less than 30 minutes* + single seizure then 1% risk of developing epilepsy
in the <1% who have all these features, risk of developing epilepsy is much higher (e.g. 50%)
A newborn male baby is found to have an undescended right testicle during the routine 6-8 week examination. It is neither palpable in the scrotum or inguinal canal. What is the most appropriate management?
Outpatient referral to urology to be seen within 4 weeks
Review at 3 months
Immediate referral to urology
Arrange ultrasound abdomen and scrotum
Review at 12 months
Undescended testicle - wait 6 months prior to referral
If the testicle has not descended by around 3 months then referral should be considered for orchidopexy.
Features of undescended testis
Undescended testis occurs in around 2-4% of term male infants., but is much more common if the baby is preterm. Around 25% of cases are bilateral
Complications of undescended testis
infertility
torsion
testicular cancer
psychological
Management
orchidopexy: NICE CKS now recommend referral should be considered from around 3 months of age, with the baby ideally seeing a urological surgeon before 6 months of age. Surgical practices vary although the majority of procedures are performed at around 1 year of age
What are the organisms which may colonise a patient with CF?
Staphylococcus aureus
Pseudomonas aeruginosa
Burkholderia cepacia*
Aspergillus
Which one of the following best describes the emergency treatment of a child with severe croup?
Oxygen + nebulised saline
Oxygen + nebulised adrenaline
Oxygen + nebulised salbutamol
Oxygen + IM benzylpenicillin
Oxygen + nebulised steroids
Oxygen + nebulised adrenaline
Oral dexamethasone should also be given if the child is able to take it.
A 6-week-old term infant has difficulty feeding due to increased breathlessness. As the on-call doctor you are called to review this baby. You witness the baby feeding and note she is pink and well perfused but sweating profusely with and increased respiratory rate. On examination you hear a soft pan-systolic murmur at the lower left sternal border.
What is the most likely underlying pathology?
Transient tachypnoea of the newborn
Acute respiratory distress syndrome
Heart failure
Eisenmenger syndrome
Infantile pneumonia
Heart failure typically presents in infants with symptoms of breathlessness worse on exertion (e.g. feeding), sweating, poor feeding and recurrent chest infections.
On examination you should: examine the growth charts (?failure to thrive), examine for tachycardia, tachypnoea, murmurs and pre and post-ductal saturations.
Heart failure may be due to duct dependant systemic circulations (<2 weeks old) e.g. coarctation of the aorta or left-to-right shunts (>2 weeks old) e.g. VSD as the pulmonary vasculature resistance begins to fall.
In this case the baby has a large VSD causing decompensated heart failure. Cardiac lesions can be missed during the foetal anomaly scan and this baby would need a detailed foetal echocardiogram and discussion with the cardiac team on management strategies.
What are the acyanotic congenital heart defects?
Acyanotic - most common causes
ventricular septal defects (VSD) - most common, accounts for 30%
atrial septal defect (ASD)
patent ductus arteriosus (PDA)
coarctation of the aorta
aortic valve stenosis
VSDs are more common than ASDs. However, in adult patients ASDs are the more common new diagnosis as they generally presents later
What are the most common causes of cyanotic congenital heart disease?
Cyanotic - most common causes
tetralogy of Fallot
transposition of the great arteries (TGA)
tricuspid atresia
pulmonary valve stenosis
Fallot’s is more common than TGA. However, at birth TGA is the more common lesion as patients with Fallot’s generally presenting at around 1-2 months
Factors which point towards child abuse include:
story inconsistent with injuries
repeated attendances at A&E departments
late presentation
child with a frightened, withdrawn appearance - ‘frozen watchfulness’
Possible physical presentations of child abuse include:
bruising
fractures: particularly metaphyseal, posterior rib fractures or multiple fractures at different stages of healing
torn frenulum: e.g. from forcing a bottle into a child’s mouth
burns or scalds
failure to thrive
sexually transmitted infections e.g. Chlamydia, Gonorrhoea, Trichomonas
Henoch Schonlein Purpura
Features of HSP
Henoch-Schonlein purpura (HSP) is an IgA mediated small vessel vasculitis. There is a degree of overlap with IgA nephropathy (Berger’s disease). HSP is usually seen in children following an infection.
Features
palpable purpuric rash (with localized oedema) over buttocks and extensor surfaces of arms and legs
abdominal pain
polyarthritis
features of IgA nephropathy may occur e.g. haematuria, renal failure
Mx of HSP
Analgesia for arthralgia
Supportive treatment for nephropathy
Px of HSP
Self-limiting condition, especially in children without renal involvement
1/3rd have a relapse
An 18 month old child attends the paediatric assessment unit with his mother. He has been brought in as he has had a fever, barking cough and difficulty breathing at night. He has been diagnosed with croup and you have been asked to see him to review. After history and assessment you are confident there is no stridor or respiratory distress. What would your next step in management be?
Give antibiotics
Give oxygen
Full ENT exam
Give nebulised adrenaline
Give oral dexamethasone
This child has mild croup, the severity of croup is based upon; respiratory rate, respiratory distress, heart rate, O2 saturations and exhaustion. Treatment of mild croup is oral dexamethasone 0.15mg/kg single dose and review. Systemic dexamethasone and nebulised adrenaline 5ml of 1:1000 are used in severe croup, alongside oxygen administration. Antibiotics should not be given unless an underlying bacterial infection is suspected. You should not perform an ENT exam due to the possibility of an epiglottis diagnosis.
Features of foetal alcohol syndrome
Features
short palpebral fissure
thin vermillion border/hypoplastic upper lip
smooth/absent filtrum
learning difficulties
microcephaly
growth retardation
epicanthic folds
Baby may show symptoms of alcohol withdrawal at birth e.g. irritable, hypotonic, tremors
A mother notices that her newborn boy has small eye openings, a small body and low-set ears. On examination the paediatrician also notes a flat philtre, a sunken nasal bridge, short palpebral fissures and a thin upper lip. What is the most likely cause?
Diabetes
Maternal alcohol abuse
Group B Streptococcal infection
Maternal Listeria
Maternal opioid abuse
Fetal alcohol syndrome
Maternal alcohol abuse during pregnancy.
Presentation: IUGR, microcephaly, midfacial hypoplasia, micrognathia, smooth philtrum, microphthalmia, short palpebral fissures, thin upper lip, irritability, ADHD.
What is the most common cause of DS and risk of recurrence?
94% non-disjunction
What proportion of DS caused by Robertsonian translocation?
Risk of recuccrence
5% (usually onto chromosome 14)
10-15% if mother is translocation carrier
2.5% if father is translocation carrier
What are the chromosomal causes of DS
Non disjunction
Translocation
Mosaicism
A mother asks for information following a recent admission of her 2-year-old son with a febrile convulsion. What is the chance of her son having a further febrile convulsion?
Febrile convulsions - risk of further convulsions = 30%
An 11-year-old girl presents with a productive cough and fever. A chest x-ray is taken:
Bilateral pneumothoraces
Left lingula consolidation
Dilated cardiomyopathy with pulmonary oedema
Left humeral head fracture
Left middle lobe consolidation
The loss of the left heart border is a classic sign of left lingula consolidation. There is no left middle lobe!
A 10-year-old girl is admitted with shortness-of-breath and fatigue. A chest x-ray is performed on admission:
Based on the x-ray findings, what is the most likely diagnosis?
Inhaled foreign object
Heart failure
Asthma
Cystic fibrosis
Pneumonia
The x-ray shows dilated cardiomyopathy and features of pulmonary oedema including fluid in the horizontal fissure.
Causes of snoring in children
Obesity
Nasal problems: polyps, deviated septum, hypertrophic nasal turbinates
Recurrent tonsilitis
DS
Hypothyroidism
Disease not excluded from school
Conjunctivitis
Fifth disease
Roseola
Infectious mononucleosis
Head lice
Threadwormsq
Fifth disease
Erythema infectiosum or fifth disease is one of several possible manifestations of infection by parvovirus B19.[1] The disease is also referred to as slapped cheek syndrome, slapcheek, slap face orslapped face.[2][3]
The name “fifth disease” comes from its place on the standard list ofrash-causing childhood diseases, which also includes measles (1st),scarlet fever (2nd), rubella (3rd), and Dukes’ disease (4th), though the latter is no longer widely accepted as distinct.
Roseola infantum
Roseola is a disease of children, generally under two years old.[1]Although it has been known to occur in eighteen-year-olds, whose manifestations are usually limited to a transient rash (“exanthem”) that occurs following a fever of about three days’ duration.
It is caused by two human herpesviruses, human herpesvirus 6 (HHV-6) and human herpesvirus 7 (HHV-7), which are sometimes referred to collectively as Roseolovirus. There are two variants of HHV-6 (HHV-6a and HHV-6b) and studies in the US, Europe, Dubai and Japan have shown that exanthema subitum is caused by HHV-6b. This form of HHV-6 infects over 90% of infants by age 2. Research has shown that babies can be congenitally infected with HHV-6 via vertical transmission.[2] This has been shown to occur in 1% of children in the United States.[3][4]
Excluded from school for 24h after commencing antibiotics
Scarlet fever
School exclusion 4 d from onset of rash
Measles
School exclusion 5d from onset of rash
Chickenpox
School exclusion 5d from onset of swollen glands
Mumps
School exclusion until 5d after commencing antibiotics
Whooping cough
School exclusion 6d from onset of rash
Rubella
School exclusion until symptoms have settled over 48h
D+V
School exclusion until lesions have crusted over
Impetigo
School exclusion until treated
Scabies
School exclusion until recovered
IFV
USS screening for DDH
Breech presentation is a risk factor for developmental dysplasia of the hip (DDH), so you should check that the baby has been referred for screening for this condition. The Department of Health advises that all babies that were breech at any point from 36 weeks (even if not breech by time of delivery), babies born before 36 weeks who had breech presentation, and all babies with a first degree relative with a hip problem in early life, should be referred for ultrasound of the hips. If one of a pair of twins is breech, both should be screened. Some Trusts also refer babies with other conditions including oligohydramnios, high birthweight, torticollis, congenital talipes calcaneovalgus and metatarsus adductus. Further details on screening for DDH can be found at the link below.
For which one of the following indications is carbamazepine least likely to be a useful management option?
Trigeminal neuralgia
Absence seizures
Bipolar disorder
Temporal lobe epilepsy
Complex partial seizures
Carbamazepine is generally ineffective in absence seizures
Features of carbamazepine
Carbamazepine is chemically similar to the tricyclic antidepressant drugs. It is most commonly used in the treatment of epilepsy, particularly partial seizures, where carbamazepine remains a first-line medication. Other uses include
neuropathic pain (e.g. trigeminal neuralgia, diabetic neuropathy)
bipolar disorder
Mechanism of action
binds to sodium channels increases their refractory period
Adverse effects of carbamazepine
Adverse effects
P450 enzyme inducer
dizziness and ataxia
drowsiness
headache
visual disturbances (especially diplopia)
Steven-Johnson syndrome
leucopenia and agranulocytosis
syndrome of inappropriate ADH secretion
First sign of male puberty
Testicular growth at 10-15y/o
Testicular volume >4ml= onset of puberty
Maximum height spurt at 14
Normal changes during puberty
Gynaecomastia in boys
Asymmetrical breast growth in girls
Diffuse enlargement of the thyroid gland may be seen
A 2 day old baby who was born by a ventouse delivery is noted to have a swelling on the left side of his head in the parietal region. His head appeared normal immediately after delivery. On examination, the baby is well and the swelling does not cross suture lines. The fontanelles and sutures appear normal. What is the most likely diagnosis?
Subaponeurotic haematoma
Caput succedeneum
Craniosynostosis
Skull fracture
Cephalohaematoma
A cephalohaematoma appears as a swelling due to bleeding between the periosteum and the skull. It is most commonly noted in the parietal region and is associated with instrumental deliveries. The swelling usually appears 2-3 days following delivery and does not cross suture lines. It gradually resolves over a number of weeks.
Draw difference between caput succedaneum and cepahlohaematoma
Caput succedaneum
Cephalohaematoma
A 9-year-old boy who has recently arrived from India presents with fever. On examination a grey coating is seen surrounding the tonsils and there is extensive cervical lymphadenopathy. What is the most likely diagnosis?
Dengue fever
Typhoid
Paratyphoid
Actinomycosis
Diphtheria
Diphtheria
Features of diptheria
Diphtheria is caused by the Gram positive bacterium Corynebacterium diphtheriae
Pathophysiology
releases an exotoxin encoded by a β-prophage
exotoxin inhibits protein synthesis by catalyzing ADP-ribosylation of elongation factor EF-2
Diphtheria toxin commonly causes a ‘diphtheric membrane’ on tonsils caused by necrotic mucosal cells. Systemic distribution may produce necrosis of myocardial, neural and renal tissue
Presentation of diptheria
Recent visitor to Eastern Europe/Russia/Asia
Sore throat with a diptheric membrane
Bulky cervical lymphadenoapthy
Neuritis e.g. cranial nerves
Heart block
Dipthertitic membrane
A baby born at 35 weeks gestations via normal vaginal delivery is found to be irritable 48 hours after birth and suffers a convulsion. There is no obvious head trauma or swellings. Which one of the following cranial injuries is most likely to have occurred?
Caput succedaneum
Cephalohaematoma
Subaponeurotic haemorrhage
Intraventricular haemorrhage
Extradural haemorrhage
Caput succedaneum is caused by pressure on the fetal scalp during the birthing process. It results in a large oedematous swelling and bruising over the scalp. Treatment is not required as the swelling reduces over a few days.
A cephalohaematoma may occur after a spontaneous vaginal delivery or following a trauma from the obstetric forceps or the ventouse. A haemorrhage results after the presidium is sheared from the parietal bone. The tense swelling is limited to the outline of the bone. It reduces over a few weeks - months.
A Subaponeurotic haemorrhage, also known as a subgaleal haemorrhage is rare and is due to a traumatic birth. It may result in the infant losing large amounts of blood.
An intracranial haemorrhage refers to subarachnoid, subdural or intraventricular haemorrhages. Subarachnoid haemorrhages are common and may cause irritability and even convulsions over the first 2 days of life. Subdural can following the use of forceps. Intraventricular haemorrhage mostly affects pre-term infants and can be diagnosed by ultrasound examinations.
Extradural haemorrhage is unlikely to occur during the birthing process.
Features of intraventricular haemorrhage
Haemorrhage into the ventricles
Occurs in premature neonates, may occur spontaneously
Blood may clot and occlue CSF flow, hydrocephalus may result.
Vast majority occurs in frist 72h after birth
Treatment of intraventricular haemorrhage
Supportive
Most treatments have been trialled and shown not to be of benefit
Hydrocephalus and rising ICP is an indication for shunting
You are an FY1 on the paediatric ward round with your consultant. Whilst seeing a child that has been admitted with croup, the consultant you’re with decides to quiz you on the pathophysiology.
‘What is the most likely organism to cause croup?’
Respiratory syncytial virus (RSV)
Parainfluenza virus
Pseudomonas aeruginosa
Streptococcus pneumoniae
Bordetella pertussis
Parainfluenza
A 2-year-old boy presents with a harsh cough and pyrexia. His symptoms worsened overnight and on examination stridor is noted. Which one of the following interventions may improve his symptoms?
Codeine linctus
Humidified oxygen
Nebulised salbutamol
Oral erythromycin
Oral dexamethasone
Oral dexamethasone
A 5-year-old girl attends your GP surgery with her mother. She reports a five day history of a sore throat and fever. On examination you note a bright red tongue, flushed face and a rough dry erythematous rash on her neck.
What is the most likely diagnosis?
Measles
Rubella
Bordetella pertussis
Kawasaki disease
Scarlet fever
A strawberry tongue can be seen in both scarlet fever and Kawasaki disease. However given the history a diagnosis of scarlet fever is more likely.
Lay rescuers vs two or more trained rescuers in PLS
30:2 vs 15:2 chest compressions to breaths
Presenting features of CF
Neonatal period (20%): meconium ileus, prolonged jaundice
Recurrent chest infections (40%)
Malabsroption (30%): steatorrhoea, FTT
Other featuers: liver disease
Short stature
DM
Delayed puberty
Rectal prolapse (due to bulky stools)
Nasal polyps
Male infertility, female subfertility
Developmental milestones: fine motor and vision
3m
Reaches for object
Holds rattle briefly if given to hand
Visually alert, particularly to human faces
Fixes and follows to 180 deg
Developmental milestones: fine motor and vision
6m
Holds in palmar grasps
Passes objects between hands
Visually insatiable: looking around in every direction
Developmental milestones: fine motor and vision
9m
Points with finger
Early pincer
Developmental milestones: fine motor and vision
12m
Good pincer grip
Bangs toys together
Developmental milestones: fine motor and vision Bricks
15m
Tower of 2
Developmental milestones: fine motor and vision Bricks
18m
Tower of 3
Developmental milestones: fine motor and vision Bricks
2y
Tower of 6
Developmental milestones: fine motor and vision Bricks
3y
Tower of 9
Developmental milestones: fine motor and vision drawing
18m
Circular scribble
Developmental milestones: fine motor and vision drawing
2y
Copies vertical line
Developmental milestones: fine motor and vision drawing
3y
Copies circle
Developmental milestones: fine motor and vision drawing
4y
Copies cross
Developmental milestones: fine motor and vision drawing
5y
Copies square and triangle
Developmental milestones: fine motor and vision book
15m
Looks at book, pats page
Developmental milestones: fine motor and vision book
18m
Turns pages several at a time
Developmental milestones: fine motor and vision book
2y
Turns pages, one at a time
Mx of chickenpox
Keep cool, trim nails
Calamine lotion
School exclusion
Immunocompromised patients and newborns with peripartum exposure should receive VZIG. If chickenpox develops, IV aciclovir should be considered
Cxs of chickenpox
Commonly: secondary bacterial infection of the lesioins
Rarer:
pneumonia
encephalitis (cerebellar involvement)
disseminated haemorrhagic chcikenpox
arthritis, nephritis, pancreatitis
Chest x-ray showing miliary opacities secondary to healed varicella pneumonia. Multiple tiny calcific miliary opacities noted throughout both lungs. These are of uniform size and dense suggesting calcification. There is no focal lung parenchymal mass or cavitating lesion seen.The appearances are characteristic for healed varicella pneumonia.
Features of VZV
Chickenpox is caused by primary infection with varicella zoster virus. Shingles is reactivation of dormant virus in dorsal root ganglion
Chickenpox is highly infectious
spread via the respiratory route
can be caught from someone with shingles
infectivity = 4 days before rash, until 5 days after the rash first appeared*
incubation period = 10-21 days
Clinical features (tend to be more severe in older children/adults)
fever initially
itchy, rash starting on head/trunk before spreading. Initially macular then papular then vesicular
systemic upset is usually mild
Contraindications to MMR
severe immunosuppression
allergy to neomycin
children who have received another live vaccine by injection within 4 weeks
pregnancy should be avoided for at least 1 month following vaccination
immunoglobulin therapy within the past 3 months (there may be no immune response to the measles vaccine if antibodies are present)
Adverse effects of MMR
malaise, fever and rash may occur after the first dose of MMR. This typically occurs after 5-10 days and lasts around 2-3 days
An 8-year-old boy presents with weakness and purple striae on his abdomen. On examination he is obese with a central fat distribution and is found to have facial plethora. He is also found to have a blood pressure of 130/85 mmHg and facial plethora.
What is the most likely underlying cause?
ACTH-secreting pituitary tumour
Adrenal carcinoma
Craniopharyngioma
Congenital adrenal hyperplasia
Ectopic adrenocorticotropin-producing tumour
The history is suggestive of Cushing’s syndrome. In an 8-year old boy the commonest cause of Cushing’s would be iatrogenic use of glucocorticoids. Out of the options above the most likely answer is an ACTH-secreting pituitary tumour.
Eczema herpeticum
Eczema herpeticum describes a severe primary infection of the skin by herpes simplex virus 1 or 2. It is more commonly seen in children with atopic eczema. As it is potentially life threatening children should be admitted for IV aciclovir
A 2-year-old child with a history of atopic eczema is brought to the local GP surgery. Her eczema is usually well controlled with emollients but her parents are concerned as the facial eczema has got significantly worse overnight. She now has painful clustered blisters on both cheeks, around her mouth on her neck. Her temperature is 37.9ºC. What is the most appropriate management?
Advise paracetamol + emollients and reassure
Admit to hospital
Add hydrocortisone 1%
Oral flucloxacillin
Topical fusidic acid
Eczema herpeticum is a serious condition that requires IV antivirals
IM benzylpenicillin for suspected meningococcal septicaemia in the community dose
<1y
300mg
IM benzylpenicillin for suspected meningococcal septicaemia in the community dose
1-10y
600
IM benzylpenicillin for suspected meningococcal septicaemia in the community dose
>10y
1200mg
Def: precocious puberty
‘development of secondary sexual characteristics before 8 years in females and 9 years in males’
more common in females
How can precocious puberty be classified?
Gonadotrophin dependant (central/true)
Gonadotrophin independant
Central precocious puberty
Due to premature access of the HPgonadal axis
FSH and LH raised
Pseudo precocious puberty
Due to excess sex hormones
FSH and LH low
Precocious puberty in males?
Uncommon, usually has an organic cause
Bilateral testes enlargement in male with precocious puberty
Gonadotrophin release from intracranial lesion
Unilateral enlargement of testes in precocious puberty
Gonadal tumour
Small testes in precocious puberty
Adrenal cause (tumour or adrenal hyperplasia)
Precocious puberty in females
Usually idiopathic or familial and follows normal sequence of puberty
Organic causes are rare
associated with rapid onset, neurological symptoms and signs and dissonance
e.g. McCune Albright syndrome
A mother brings her 9-year-old daughter into surgery. She has been having recurrent headaches. Which one of the following features of migraine is more common in children?
Prolonged migraines (e.g. 24-48 hours)
Strictly unilateral symptoms
Hemiplegia
Good response to metoclopramide
Gastrointestinal disturbance
Nausea, vomiting and abdominal pain are common in children with migraine.
Please rate this question:
Migraines in children
Tend to be shorter-lasting
Headache commonly bilateral
GI disturbance more prominent
Aura symptoms
motor weakness
double vision
visual symptoms affecting only one eye
poor balance
decreased level of consciousness.
Minimal change disease
75% of cases of nephrotic syndrome in children
Causes of nephrotic syndrome
Majority are idiopathic
Cause found in 10-20%
Drugs: NSAIDS, rifampicin
HL, thymoma
Infectious mononucleosis
Pathophysiology of minimal change disease
T cell and cytokine mediated damage to the GBM-> polyanion loss.
Resultant reduciton of electrostatic charge _> increased glomerular permeability to serum albumin
Featrues of minimal change disease
Nephrotic syndrome
Normotension (HTN rare)
Highly selective proteinuria: only intermediate-sized proteins such as albumin and transferrin leak through the glomerulus
Renal biopsy: electron micrsoscpy shows podocyte fusion
Mx of minimal change disease
80% are steroids responsive
Cyclophosphamide is the next step
Px of minimal change disease
1/3rd have one episode
1/3rd have infrequent relapses
1/3rd have frequent relapses
Prader Willi syndrome pathophysiology
Prader-Willi syndrome is an example of genetic imprinting where the phenotype depends on whether the deletion occurs on a gene inherited from the mother or father:
Prader-Willi syndrome if gene deleted from father
Angelman syndrome if gene deleted from mother
Prader-Willi syndrome is associated with the absence of the active Prader-Willi gene on the long arm of chromosome 15. This may be due to:
microdeletion of paternal 15q11-13 (70% of cases)
maternal uniparental disomy of chromosome 15
Features of PWS
Hypotonia during infancy
Dysmorphic features
Short features
Hypogonadism and infertility
LD
Childhood obesity
Behavioural problems in adolescence
You are in a genetics clinic and explaining to a mother and father the reasoning why their son has Prader-Willi syndrome. What is the term we use to describe the mode of inheritance for Prader-Willi syndrome?
Autosomal recessive
Autosomal dominant
Imprinting
Pleiotropy
Variable expressivity
Prader-Willi is an example of imprinting. For this disease to occur, the patient does not receive the gene from their father. The mother’s gene may be normal, but that does not prevent the phenotype occurring. The phenotype consists of learning difficulties, hypotonia, obesity and the urge to eat.
Autosomal recessive is when a person receive a defect gene from the mother and a defective gene from the father causing them to have the particular condition. An example of this is cystic fibrosis.
Autosomal dominant refers to when a person only need to receive one defective gene to inherit a condition, this can be from the mother or father. An example of this would Huntington’s disease.
Pleiotropy refers to when one gene, when defective, causing two or more clinical effects that appear unrelated.
Variable expressibility refers to when an inherited genetic defect causes different levels of clinical effect.
A baby is born at term via vaginal delivery with no complications, however he is still not showing signs of breathing at one minute. Heart rate is >100bpm, but he is floppy and cyanosed. What is the most appropriate next step in management?
Call for anaesthetist to intubate the baby
5 mouth-to-mouth rescue breaths
5 breaths of oxygen via face mask
Start chest compressions
Suction airways
Airway suction should not be performed unless there is obviously thick meconium causing obstruction, as it can cause reflex bradycardia in babies. Chest compressions are not indicated, as the HR in this case is >100bpm. CPR should only be commenced at a HR < 60bpm. In cases where there are no signs of breathing and this is thought to be due to fluid in the lungs, five breaths should be given via a 250ml bag via face mask. This is a more effective and more hygienic method than using mouth-to-mouth in a hospital setting.
A 14-year-old male being investigated for iron-deficiency anaemia is found to have numerous polyps in his jejunum. On examination he is also noted to have pigmented lesions on his palms and soles. What is the likely diagnosis?
Hereditary non-polyposis colorectal carcinoma
Gardner’s syndrome
Familial adenomatous polyposis
Peutz-Jeghers syndrome
Hereditary haemorrhagic telangiectasia
Hereditary haemorrhagic telangiectasia is associated with mucocutaneous lesions and iron-deficiency anaemia but intestinal polyps are not a feature
Features of Peutz-Jeghers syndrome
Peutz-Jeghers syndrome is an autosomal dominant condition characterised by numerous hamartomatous polyps in the gastrointestinal tract. It is also associated with pigmented freckles on the lips, face, palms and soles. Around 50% of patients will have died from a gastrointestinal tract cancer by the age of 60 years.
Genetics
autosomal dominant
responsible gene encodes serine threonine kinase LKB1 or STK11
Features
hamartomatous polyps in GI tract (mainly small bowel)
pigmented lesions on lips, oral mucosa, face, palms and soles
intestinal obstruction e.g. intussusception
gastrointestinal bleeding
Management
conservative unless complications develop
Peutz-Jeghers syndrome
You see a 6 week-old baby boy for his routine baby check and note a small, soft, umbilical hernia on examination. What should you do?
Advise parents to tape a coin over the area
Refer for surgery
Refer for ultrasound
Watch and wait
Arrange emergency admission
Small umbilical hernias are common in babies and tend to resolve by 12 months of age. Parents should be reassured no treatment is usually required but to be aware of the signs of obstruction or strangulation such as vomiting, pain and being unable to push the hernia in - this is rare in infants. Advise the parents to present the child at around 2 years of age if the hernia is still present to arrange referral to a surgeon. Attempts to treat the hernia by strapping or taping things over the area are not helpful and can irritate the skin.
The mother of a 6-week-old baby girl born at 32 weeks gestation asks for advice about immunisation. What should happen regarding the first set of vaccines?
Give first set of vaccinations at 3 months (i.e. delay for 1 month)
Give DTaP/IPV/Hib at 2 months but not PCV
Give first set of vaccinations at 4 months (i.e. correct for gestational age)
Give first set of vaccinations as per normal timetable but within hospital environment
Give as per normal timetable
Give as per normal timetable
You are asked to by the Primary Care Trust to design a program to improve the health of infants in the local community. What is the most common cause of death of infants greater than one month but less than one year old?
Accidents
Congenital disorders
Sudden infant death syndrome
Cancer
Infection
Sudden infant death syndrome
After the age of 1 year accidents are the most common cause of death in children
A 12-year-old female from Bulgaria presents to the surgery. She reports being unwell for the past 2 weeks. Initially she had a sore throat but she is now experiencing joint pains intermittently in her knees, hips and ankles. On examination there are some pink, ring shaped lesions on the trunk and occasional jerking movements of the face and hands. What is the most likely diagnosis?
Lyme disease
Infective endocarditis
Polyarticular juvenile idiopathic arthritis
Rheumatic fever
Still’s disease
Rheumatic fever
Features of rheumatic fever
Rheumatic fever develops following an immunological reaction to recent (2-6 weeks ago) Streptococcus pyogenes infection. Diagnosis is based on evidence of recent streptococcal infection accompanied by:
2 major criteria
1 major with 2 minor criteria
Erythema marginatum
Rheumatic fever criteria
JONES
CAFE PAL
Major
Joint involvement
O- myocarditis
Nodules, subcutaenous
Erythema marginatum
Sydenham’s chorea
Minor
CRP increased
Arthralgia
Fever
Elevated ESR
Proloned PRI
Anamnesis of rheumatism
Leukocytosis
Evidence of recent strep infection
ASOT >200iU/mL
Hx of scarlet fever
Positive throat swab
Increase in DNAse B titre
You are reviewing a 9-month-old child with suspected bronchiolitis. Which one of the following features should make you consider other possible diagnoses?
Fine inspiratory crackles
Rhinitis
Feeding difficulties
Temperature of 39.7ºC
Expiratory wheeze
A low-grade fever is typical in bronchiolitis. SIGN guidelines advise that the presence of high fever should make the clinician carefully consider other causes before making the diagnosis.
After birth which of the following happens in the foetus?
The foramen ovale opens allowing blood to circulate into the pulmonary artery
Haemoglobin A is replaced by Haemoglobin F, which has a lower affinity for oxygen and may lead to physiological jaundice in the newborn
The umbilical veins and arteries remain open for several days
The ductus arteriosus closes
The first few breaths force lung fluid into the fetal alveoli
After birth, the foramen ovale, ductus arteriosus and umbilical vessels close within a few hours.
After a few days Haemoglobin F is replaced by Haemoglobin A, which has a lower affinity for oxygen and may lead to physiological jaundice in the newborn, due to the breakdown of fetal blood cells. The first few breaths force lung fluid out of the fetal alveoli.
Foraemn ovale
This allows blood to shunt from the right atrium to left atrium, without having to pass through the lungs. At birth the lungs become functional and the pulmonary pressure decreases, resulting in a left atrial pressure which exceeds the right atrial pressure. This forces the septum primum septum secundum together, functionally closing the foramen ovale. The septa eventually fuse, leaving a remnant of the foramen ovale, called the fossa ovalis.
Ductus arteriosus:
This is a vessel connecting the pulmonary artery to the aorta which allows blood from the right ventricle to bypass the non-functioning fetal lungs. After birth this closes to form the ligamentum arteriosum. The closure of the ductus arteriosus allowed blood to circulate into the pulmonary artery and become oxygenated. If the ductus arteriosus fails to close patients are left with a patent ductus arteriosus (PDA) which causes left-to-right shunting and can lead to pulmonary hypertension, heart failure and arrhythmias.
Truncus arteriosus
Ascending aorta and pulmonary trunk
The division of the truncus arteriosus is triggered by neural crest cell migration from the pharyngeal arches. Problems with the migration may lead to transposition of the great arteries or tetralogy of Fallot
Bulbis cordis
Right ventricle and smooth parts of left ventricle
Primitive atria
Trabeculated parts of the left and right atria
Primitive ventricle
Majority of left ventricle
Left horn of the sinus venous
Coronary sinus
Right horn of the sinus venous
Smooth part of the right atrium
Right common cardinal vein and right anterior cardinal vein
Superior vena cava
Umbilical artery
Medial umbilical ligaments
Umbilical vein
Ligamentum teres hepatis (inside falciform ligament)
Ductus arteriosus
Ligamentum arteriosum
Ductus venous
Ligamentum venosum
Urachus
The urachus is a fibrous remnant of the allantois, a canal that drains the urinary bladder of the fetus that joins and runs within the umbilical cord.[1] The fibrous remnant lies in the space of Retzius, between the transversalis fascia anteriorly and the peritoneum posteriorly.
Pre-school wheeze in children
Wheeze is extremely common in pre-school children, with an estimated 25% of children having an episode of wheeze before 18 months. Viral-induced wheeze is now one of the most common diagnoses made on paediatric wards. There is however ongoing debate regarding the classification of wheeze in this age group and the most appropriate management.
Over recent years, led by the European Respiratory Society Task Force, the favoured classification for pre-school wheeze is to divide children into one of two groups;
episodic viral wheeze: only wheezes when has a viral upper respiratory tract infection (URTI) and is symptom free inbetween episodes
multiple trigger wheeze: as well as viral URTIs, other factors appear to trigger the wheeze such as exercise, allergens and cigarette smoke
Episodic viral wheeze is not associated with an increased risk of asthma in later life although a proportion of children with multiple trigger wheeze will develop asthma.
Mx of episodic viral wheeze
Episodic viral wheeze
treatment is symptomatic only
first-line is treatment with short acting beta 2 agonists (e.g. salbutamol) or anticholinergic via a spacer
next step is intermittent leukotriene receptor antagonist (montelukast), intermittent inhaled corticosteroids, or both
there is now thought to be little role for oral prednisolone in children who do not require hospital treatment
Mx Multiple trigger wheeze
trial of either inhaled corticosteroids or a leukotriene receptor antagonist (montelukast), typically for 4-8 weeks
An 18-month-old boy is brought to the GP by his mother as she is concerned about his breathing. Three days ago he started with fever, cough and rhinorrhoea. For the past 24 hours his mother reports that he has been ‘wheezy’. On examination his temperature is 37.9ºC, heart rate 126/min, respiratory rate 42/min and a bilateral expiratory wheeze is noted. You prescribe a salbutamol inhaler along with a spacer. Two days later the mother represents noting the inhaler has made little difference to the wheeze. Clinical findings are similar, although his temperature today is 37.4ºC. What is the most appropriate next step in management?
Inhaled long-acting beta agonist
Oral prednisolone
Add in regular ipratropium bromide
Oral montelukast or inhaled corticosteroid
Oral amoxicillin
This child is likely to have a viral-induced wheeze, also known as episodic viral wheeze. First-line treatment is short-acting bronchodilator therapy. If this is not successful then either oral montelukast or inhaled corticosteroids should be tried.
What is the prevalence of atopic eczema in children?
1-2%
2-5%
15-20%
11-12%
5-10%
Eczema occurs in around 15-20% of children and is becoming more common. It typically presents before 6 months but clears in around 50% of children by 5 years of age and in 75% of children by 10 years of age
Featues of eczma
in infants the face and trunk are often affected
in younger children eczema often occurs on the extensor surfaces
in older children a more typical distribution is seen, with flexor surfaces affected and the creases of the face and neck
Mx of eczma
Avoid irritants
Simple emollients: prescribe large amounts in a ratio with topcial steroids of 10:1. If a topical steroid is being used the emollient should be applied first followed by waiting at least 30 minutes before applying topical steroids.
Topical steroids
In severe cases wet wraps and oral ciclosporin may be used
Characteristic features of congenital rubella infection
Sensorineural deafness
Congenital cataracts
Congenital heart disease: PDA
Glaucoma
Other features include:
Growth retardation
Hepatosplenomegaly
Purpuric skin lesions
Salt and pepper chorioretinitis
Micropthalmia
CP
Salt and pepper chorioretinitis
Rubella
TORCH
Toxoplasmosis
Other: syphillis, VZV, parvovirus B19
Rubella
CMV
Herpes
Characteristic features of toxoplasmosis vertical transmission
Cerebral calcification
Chorioretinitis
Hydrocephalus
Other features:
Anaemia
Hepatosplenomegaly
CP
Characteristic of vertical CMV infection
Growth retardation
Purpuric skin lesions
Others:
Sensorineural deafness
Encephalitis/seizures
Pneumonitis
Hepatosplenomegaly
Anaemia
Jaundice
CP
TOF
VSD
RVH
Right ventricular outflow tract obstruction
Overriding aorta
What is the most common cause of cyanotic congenital heart disease?
TOF
*however, at birth transposition of the great arteries is the more common lesion as patients with TOF generally present at around 1-2 months
What determines the clinical severity of TOF?
The severity of the RV outflow tract obstruction
Features of TOF
Cyanosis
Causes a right to left shunt
Ejection systolic murmur due to PS
Right sided aortic arch seen in 25%
CXR shows boot shaped heart, ECG shows RVH
Boot shaped heart
TOF
Mx of TOF
Surgical repair often undertaken in two parts.
Cyanotic episodes may be helped by beta blockers to reduce infundibular spasm
What is the most common cause of hypertension in children?
Renal vascular disease
Congenital adrenal hyperplasia
Renal parenchymal disease
Coarctation of the aorta
Phaeochromocytoma
Renal parenchymal disease
Causes of HTN in children
Renal parenchymal disease
Renal vascular disease
Coarctation of the aorta
Phaeo
CAH
Essential or primary HTN
It is December and you are the paediatric foundation doctor. A five month old baby is admitted through the paediatric observation unit with tachypnoea, tachycardia and fever. On examination there is evidence of increased work of breathing with sub costal and diaphragmatic recession. There is widespread wheeze. You discuss the patient with your senior and a diagnosis of bronchiolitis is established. Oxygen is started but it is not deemed appropriate to begin intravenous fluids at this time. Which investigation is important to conduct in the management of this patient?
Glucose
Full blood count
Nasopharyngeal aspirate
Urea and electrolytes
Arterial blood gas
Nasopharyngeal aspirate are recommended during the winter months to ascertain which children are suffering with respiratory syncitial virus positive bronchiolitis. By diagnosing these patients it helps with ward management of patients, placing RSV negative patients on a ward and RSV positive patients in a side room.
Urea and electrolytes would only be appropriate if the patient was on IV fluids.
Features of benign rolandic epilepsy
Form of childhood epilepsy which typically occurs between 4 and 12 years
Seizures characteristically occur at night
Typicall partial: paraesthesia affecting face but secondary generalisation amy occur.
Child is otherwise normal
EEG characteristically shows centro-temporal spikse
Px is excellent with seizures stopping by adolescence
Charlie is a 7 month old baby boy who presents to you with poor weight gain (50th to 10th centile), on examination he has an erythematous, blanching rash over his abdomen, colicky abdominal pain and vomiting after feeds. He has been breast feeding with top ups of ‘Aptamil’ formula. What is the most likely diagnosis?
Pyloric stenosis
Eczema
Infantile colic
Cows’ milk protein intolerance
Reflux
The correct answer is cows’ milk protein intolerance.
The following clues in the history would suggest the diagnosis of cows’ milk protein intolerance:
Multi-system involvement
7 months would suggest the new introduction of top up feeds which correlates with the symptoms
Faltering growth along with the multi-system involvement would suggest cows’ milk protein intolerance
Charlie is older than the classical age of presentation for pyloric stenosis (2 to 8 weeks very rare above 6 months)
The presentation is unusual for eczema, infantile colic and reflux due to the multi-system involvement in the history making cows’ milk protein intolerance more likely.
A newborn is found to have a number of congenital abnormalities including an extra finger on each hand, a cleft palate and lip, microphthalmia and microcephaly.
Which of the following chromosomes is most likely to be affected in this child?
9
12
13
18
21
Patau syndrome is a chromosomal abnormality resulting in an extra full copy of chromosome 13 (trisomy 13). Like many of the chromosomal defects, physical and mental disability is common, in this case key distinguishing features to separate Patau’s from other trisomy disorders include polydactyly, cleft lips and palates, microcephaly and microphthalmia. Many children die before within a year of birth but those who survive will often go on to show intellectual and motor disability.
What are the most common #s associated with child abuse?
Radial
Humeral
Femoral
What are the common #s not associated with NAI
Distal radial
Elbow
Clavicular
Tibial
Triad in shaken baby syndrome
Retinal haemorrhages
Subdural haematoma
Encephalopathy
Caused by the intentional shaking of a child.
A 14-year-old boy is brought in by his mother who noticed her child had repeated episodes of slurred speech and gait abnormalities. On musculoskeletal examination, you notice muscle weakness, dysdiadochokinesis and spinal scoliosis. What is the mode of inheritance of this condition?
X-linked recessive
Autosomal dominant
Point mutation
X-linked dominant
Autosomal recessive
Firedrich’s ataxia
AR
Triad in HUS
Acute renal failure
MAHA
Thrombocytopenia
Causes of HUS
Post-dysentry- classically E Coli 0157:H7
Tumours
Pregnancy
Ciclosporin, OCP
SLE
HIV
Ix in HUS
FBC: anaemia, thrombocytopenia, fragmented blood film
U&E: acute renal failure
Stool culture
Mx of HUS
Supportive: fluids, blood transfusions, dialysis if required
No role for Abx.
PLEX reserved for cases not associated with diarrhoea
A 6-year-old boy is diagnosed as having nephrotic syndrome. A presumptive diagnosis of minimal change glomerulonephritis is made. What is the most appropriate treatment?
Cyclophosphamide
Albumin infusion
Plasma exchange
Renal biopsy followed by prednisolone
Prednisolone
A renal biopsy is only indicated if response to steroids is poor
A 29-week-old baby is born premature and shortly after birth experiences tachypnoea and tachycardia along with chest wall retractions. The paediatrician notes that the neonate has a blue discolouration of the skin and commences continuous positive airway pressure (CPAP) and intravenous fluids before explaining to the parents that the lungs lack surfactant, a compound that helps people breathe.
Which of the following cells are responsible for surfactant production?
Microfold cells
Alveolar macrophage
Type 1 pneumocytes
Type 2 pneumocytes
Paneth cells
Type 1 pneuomcytes are involved in the process of gas exchange between the alveoli and the blood and type 2 pneumocytes produce pulmonary surfactant.
Features of TTN
Transient tachypnoea of the newborn (TTN) is the commonest cause of respiratory distress in the newborn period. It is caused by delayed resorption of fluid in the lungs
It is more common following Caesarean sections, possibly due to the lung fluid not being ‘squeezed out’ during the passage through the birth canal
Chest x-ray may show hyperinflation of the lungs and fluid in the horizontal fissure
Supplementary oxygen may be required to maintain oxygen saturations. Transient tachypnoea of the newborn usually settles within 1-2 days
What is the most appropriate way to confirm a diagnosis of pertussis?
Blood cultures
Sputum culture
Per nasal swab
Urine for serology
Throat swab
Per nasal swab- may take weeks to come back
Causes of microcephaly
Normal variation e.g. small child
Familial e.g. parent with small head
Congenital infection
Perinatal brain injury e.g. hypxoci ischaemic encephalopathy
Fetal alcohol syndrome
Patau and other chromsomonal syndromes
Craniosynostosis
How can squints be classified?
By to where the eye deviates
The nose: esotropria
Temporally: exotropia
Superiorly: hypertropia
Inferiorly: hypotropia
A mother brings her son in to surgery as she suspects he has a squint. She thinks his right eye is ‘turned inwards’. You perform a cover test to gather further information. Which one of the following findings would be consistent with a right esotropia?
On covering the left eye the right eye moves medially to take up fixation
The cover test could not be used to identify this type of defect
On covering the left eye the right eye moves laterally to take up fixation
On covering the right eye the left eye moves laterally to take up fixation
On covering the right eye the left eye moves medially to take up fixation
On covering the left eye in this example the right eye moves laterally from the nasal (esotropic) position to take up fixation.
A neonate who was born prematurely at 35 weeks gestation is registered at the Practice. He was very well after delivery, without any notable complications such as respiratory problems. How should his routine childhood immunisations be given?
Adjust schedule for gestational age
Give according to chronological age
Refer to the hospital to receive first immunisations
Start immunisations at 3 months old
Delay until weight reaches 3.5kg
Babies who were born prematurely should receive their routine vaccinations according to chronological age; there should be no correcting for gestational age. Babies who were born prior to 28 weeks gestation should receive their first set of immunisations at hospital due to risk of apnoea.
A 14-year-old attends surgery. She was diagnosed with having migraines three years ago and requests advice about options for treating an acute attack. Which one of the following medications is it least suitable to recommend?
Aspirin
Paracetamol + prochlorperazine
Paracetamol + codeine
Ibuprofen
Paracetamol
Avoid aspirin in children < 16 years as risk of Reye’s syndrome
Aspirin should be avoided in children due to the risk of Reye’s syndrome.
Codeine would also be a poor choice as it has limited benefit in migraine.
Mx of migraine: acute treatment
First line: combination therapy with an oral triptan and an NSAID or an oral triptan and paracetamol
(for young people aged 12-17 consider a nasal triptan)
If the above measures are not effective or not tolearted offer a non-oral preparation of metoclopramide (NB risk of acute dystonic reactions in young children) or prochlorperazine and consider adding a non-oral NSAID or triptan
Mx of migraine: prophylaxis
Should be given if patients are expereincing 2 or more attacks per month
NICE adivses either topiramate or propranolol according to persons preference.
Propranolol should be used in women of child bearing age as topiramate may be teratogenic.
If these measures fail, NICE recommends a course of up to 10 sessions of acupuncture or gabapentin.
Ribloflavin may be affected
For women with premenstrual migrain, frovatriptan or zolmitriptan can be used as a mini-prophylaxis
Rules re 5-HT in mx of migraine
Agonists used in acute treatments
Antagonists used in prophylaxis
You are reviewing a 11-month-old baby with a viral upper respiratory tract infection. She is clinically well but at the end of the consultation her mother asks you about her development. You notice that she points and babbles ‘mama’ and ‘dada’ but has no other words. She is shy and cries when you try to examine her. There is an early pincer grip and she can roll from front to back but she cannot yet sit without support. How would you describe her development?
Normal development
Global developmental delay
Isolated delay in gross motor skills
Delay in speech + social skills, possibly early autism
Isolated delay in fine motor skills
Most babies can sit without support at 7-8 months so this probably represents a delay in gross motor skills. If still present at 12 months she should be considered for referral to a paediatrician. The other development features are normal for her age.
Rotavirus vaccination features
it is an oral, live attenuated vaccine
2 doses are required, the first at 2 months, the second at 3 months
the first dose should not be given after 14 weeks + 6 days and the second dose cannot be given after 23 weeks + 6 days due to a theoretical risk of intussusception
Other points
the vaccine is around 85-90% effective and is predicted to decrease hospitalisation by 70%
offers long-term protection against rotavirus
Meera brings her 5 year old daughter Reena to the surgery who is being treated for acute lymphoblastic leukaemia (ALL) for review as Reena’s classmate has been sent home from school with chickenpox. Reena is asymptomatic currently. Meera is unclear if Reena has suffered with chicken pox previously. What would be the correct management?
Admit urgently
Send home and come back if symptomatic
Prescribe aciclovir
Prescribe varicella zoster immunoglobulin
Urgent bloods for varicella zoster antibodies
‘People who have had a significant exposure to chickenpox and who are immunocompromised should be tested for varicella-zoster antibody, regardless of their history of chickenpox. Test for varicella-zoster immunoglobulin G (IgG) antibodies in primary care if test results can be available within 2 working days of first exposure. If this is not possible, urgently seek specialist advice because testing in secondary care and/or varicella-zoster immunoglobulin prophylaxis may be needed.’
A newborn baby has their blood glucose measured on the post natal ward as part of the neonatal hypoglycaemia protocol due to low birthweight. It measures 2.9mmol/L. The midwife asks you what you want to do next?
Admit to the Special Care Baby Unit (SCBU) for NG feeding
Offer additional feed if willing
Administer 100 mls intravenous 20% glucose
Measure blood glucose again in three hours time
Take blood sample for a formal glucose measurement
Neonatal hypoglycaemia is a common medical problem affecting neonates. This usually represents adaption to extrauterine life as opposed to any significant underlying medical problems. In the neonate blood glucose levels of >2.5mmol/L are usually regarded as normal. Formal measurements may be needed to confirm readings of either extreme as they are more reliable. If measurements are consistently >2.5mmol/L then monitoring can be stopped.
Which one of the following statements regarding absence seizures is incorrect?
Typical age of onset of 3-10 years old
Sodium valproate and ethosuximide are first-line treatments
Seizures may be provoked by a child holding their breath
There is a good prognosis
The EEG characteristically shows a bilateral, symmetrical 3Hz spike and wave pattern
Seizures are characteristically provoked by hyperventilation
Features of fetal varicella sndrome
Rsik of FVS following amternal varicella exposure is 1% IF OCCURS BEFORE 20W.
Skin scarring
Eye defects: microphthalmia
Limb hypoplasia
Microcephaly
LD
Pregnant woman with VZV rash
oral aciclovir should be given if pregnant women with chickenpox present within 24 hours of onset of the rash
1/2 alpha chains absent in alpha thalassaemia?
If 1 or 2 alpha chains are absent then the blood picture would be hypochromic and microcytic, but the Hb level would be typically normal
Loss of 3 alpha chains in alpha thalassaemia?
Hypocrhomic, microcytic anaemia with splenomegaly.
= HbH disease
Loss of 4 alpha chains in alpha thalassaemia?
Death in utero: hydrops fetalis, Bart’s hydrops
Causes of visual problems in children
congenital: infection, cataracts
prematurity - retinopathy of prematurity
cerebral palsy
optic atrophy e.g. hydrocephalus, optic nerve hypoplasia
albinism
The UK has recently switched to the new growth charts based on the WHO growth standard for children under the age of 5 years. The new UK-WHO charts have a separate preterm section and a 0-1 year section.
Key points
Key points
based on data from breast fed infants and all ethnic groups
the data matches UK children well for height and length but after 6 months UK children and slightly more heavy and more likely to be above the 98% centile
preterm infants born at 32-36 weeks have a separate chart until 2 weeks post-term
What is the pathophysiology of Fragile X?
Trinucleotide repeat disorder
Features of fragile x
In males:
LD
Large low set ears, long thin face, high arched palate
Macroorchidism
Hypotonia
Autism
Mitral valve prolapse
Features in females: range from normal to mild
A 4-year-old boy is admitted after developing a haemarthrosis in his right knee whilst playing in the garden. The following blood results are obtained:
Platelets220 * 109/l
PT12 secs
APTT78 secs
Factor VIIIc
activityNormal
What is the most likely diagnosis?
Antithrombin III deficiency
Von Willebrand’s disease
Antiphospholipid syndrome
Haemophilia A
Haemophilia B
A grossly elevated APTT may be caused by heparin therapy, haemophilia or antiphospholipid syndrome. A normal factor VIIIc activity points to a diagnosis of haemophilia B (lack of factor IX). Antiphospholipid syndrome is a prothrombotic condition
6-week-old infant is referred from the health visitor due to failure to thrive. The infant has fallen from the 50th to 9th centile on growth chart for weight. On further questioning, the parents reveal the infant vomits following each meal, which have on occasions ‘hit the wall.’ The mother’s pregnancy was unremarkable, with normal antenatal scans, and the infant was born by an uncomplicated vaginal delivery. There were no abnormal features noted at the newborn baby examination. What is the most likely diagnosis?
Intussusception
Infantile colic
Cow’s milk protein intolerance
Galactosaemia
Pyloric stenosis
In this question the most likely diagnosis is pyloric stenosis. Pyloric stenosis typically presents around 2-6 weeks of age. Infants tend to have projectile vomiting following feeds and remain hungry after vomiting. There may be an olive shaped mass in the right upper quadrant due to hypertrophy of the pylorus, and ‘waves of peristalsis’ may be seen following a test feed.
Which one of the following statements regarding infantile spasms is incorrect?
EEG shows hypsarrhythmia in the majority of children
Carries a good prognosis
More common in male children
Typically presents in the first 4 to 8 months
Causes characteristic ‘salaam’ attacks
Carries a good prognosis
West Syndrome
Infantile spasms
Features of infantile spasms
Type of childhood epilepsy which typically presents in the first 4-8m of life and is more common in males.
Often assocaited with serious underlying condition and the prognosis is poor.
Characteristics salaam attacks: flexion of the head, trunk and arms followed by extension of the arms.
This lasts 1-2 second but may be repeated up to 50 times
Progressive mental handicap
Ix in West Syndrome
EEG demonstrates hypsarrhythmia in 2/3rds of infants
CT demonstrates diffuse or localised brain disease in 70% e.g. tuberous sclerosis
Hypsarrhythmia
West Syndrome
Mx of West Syndrome
Poor Px
Vigabatrin is now considered first-line therapy
ACTH is also used
Features of Bartter’s syndrome
Bartter’s syndrome is an inherited cause (usually autosomal recessive) of severe hypokalaemia due to defective chloride absorption at the Na+ K+ 2Cl- cotransporter in the ascending loop of Henle. It should be noted that it is associated with normotension (unlike other endocrine causes of hypokalaemia such as Conn’s, Cushing’s and Liddle’s syndrome which are associated with hypertension)
Features
usually presents in childhood, e.g. Failure to thrive
polyuria, polydipsia
hypokalaemia
normotension
weakness
What are the primitive reflexes?
Moro
Grasp
Rooting
Stepping
Moro reflex
Head extension causes abduction followd by adduction of the arms
Present from birth to 3-4m old
Grasp reflex
Flexion of fingers when object placed in palm
Present from birth to around 4-5 months of age
Rooting reflex
Assists in breastfeeding
Present from birth to 4m of age
Stepping reflex
AKA walking reflex
Present from birth to around 2 onths of age
What are the 4 main Sickle cell crises?
Thrombotic ‘painful’ crises
Sequestration
Aplastic
Haemolytic
What are the features of thrombotic crises in SCD
AKA painful crises or vaso-occlusive crises
Precipitated by infection, dehydration, deoxygenation
Infarcts occur in various organs including the bones e.g. AVN of the hip, hand-foot syndrome (dactylitis) in children, lungs, spleen and brain
Sequestration crises in SCD
Sickling within the organs such as the spleen or lungs causes pooling of blood with worsening of the anaemia
Acute chest syndrome: dyspnoea, chest pain, pulmonary infiltrates, low pO2
The most common cause of death after childhood
In the context of an African patient suffering from a long-standing anaemia
Acute chest syndrome
Multiple pulmonary infiltrates
Aplastic crises in SCD
Caused by infection with parvovirus
Sudden fall in Hb
Hamolytic crises in SCD
Rare
Fall in Hb due to an increased rate of haemolysis
A 60 year-old man with haemophilia A has just become a grandfather. He wants to know what the chances are of his daughter’s son having haemophilia. Her daughter’s partner is well with no past medical history.
What is the probability that his daughter’s son has haemophilia A?
Impossible to calculate
50%
25%
No increased risk
100%
Haemophilia A is an X-linked recessive disease. This means that all female offspring of affected men will be carriers. There is then a 50% chance of these females passing the gene on. If the female’s children are male, they will therefore have a 50% chance of having the condition.
A man brings his 18 month old daughter to your GP clinic. She has had coryzal symptoms for the last 2 days. Last night, she started with a barking cough and a mild temperature of 37.8º.
On examination, there is a mild stridor when mobilising, with no recessions visible. Chest sounds clear with good air entry bilaterally. Temperature today remains at 37.8º, but all other observations are normal. What is the appropriate management?
Admit to hospital
Give nebulised adrenaline
Give a stat dose of dexamethasone 150 micrograms/kg PO
Give a salbutamol inhaler
Start antibiotics
This is a child who has croup. This is an illness that usually starts with coryzal symptoms, and the child then develops a seal like, barking cough.
The first stage is to work out how serious a case of croup this child has. Generally recommendations include:
Mild croup:
Occasional barking cough with no stridor at rest
No or mild recessions
Well looking child
Moderate croup:
Frequent barking cough and stridor at rest
Recessions at rest
No distress
Severe croup:
Prominent inspiratory stridor at rest
Marked recessions
Distress, agitation or lethargy
Tachycardia
In this case, the child would have mild croup.
Admission to hospital is only considered for moderate or severe croup, or if an alternative severe diagnosis like epiglottitis is suspected. It would not be appropriate in this case.
Nebulised adrenaline would only be used for children who were distressed, or who had a severe stridor. It would be not be used in this case as this child is well at rest with only a mild stridor on movement.
A salbutamol inhaler would only help if the child had wheeze, which she does not in this case. It would not give her any benefit.
Antibiotics are not indicated in croup as it is a viral illness.
Systematic reviews have shown that steroids can ease symptoms within a few hours. They also lead to fewer reattendances and fewer hospital admissions. Mild croup will resolve on its own, but Dexamethasone has been shown to be of some benefit.
Mx of CF
Regular (>BD) chest PT and psotural drainage. Deep breathing exercises are also useful
High calorie diet including high fat intake
Vitamin supplementation
Pancreatic enzyme supplements taken with meals
Heart and lung transplant
What is the most common cause of hypothyroidism in children in the UK?
Autoimmune thyroiditis
Other causes include:
Post total-body irradiation (i.e. in a child previously treated for ALL)
Iodine deficiency (most common cause in the developing world)
A 15-year-old collapses and dies whilst playing football and school. He had no past medical history of note. Post-mortem examination reveals asymmetric hypertrophy of the interventricular septum. Given the likely diagnosis, what is the chance his sister will also have the same underlying disorder?
0%
25%
50%
100%
66%
The underlying diagnosis is hypertrophic obstructive cardiomyopathy which is an autosomal dominant disorder. His sister therefore has a 50% chance of being affected.
Def: HOCM
AD disorder of muscle tissue caused by defects in te genes endocing contractile proteins.
Most common defects involves a mutation in the gene encoding beta-myosin heavy chain protein or myosin binding protein C
Features of HOCM
Often asymptomatic
Dyspnoea, angina, syncope
Sudden death (most commonly due to ventricular arrythmias), arrythmias, HF
Jerky pulse, large a waves, double apex beat
ESM
Jerky pulse, large a waves, double apex beat
HOCM
Conditions associated with HOCM
Friedreich’s ataxia
WPW
Echo findings in HOCM
MR SAM ASH
Mital regurgitation
Systolic anterior motion (SAM) of te anterior mitral valve leaflet)
Asymmetric hypertrophy (ASH)
ECG findings in HOCM
LV hypertrophy
Progressive T wave inversion
Deep Q waves
AF may be seen occasionally
Fever + Symptoms and signs: of meningococcal disease
Non-blanching rash, paritculalry in conjunction with:
an ill looking child
Lesions larger than 2mm (=purpura)
CRT >3s
Neck stiffness
Fever + Symptoms and signs: of meningitis
Neck stiffness
Bulging fontanelle
Decreased level of conciousness
Convulsive status epilepticus
Fever + Symptoms and signs: Herpes simplex encephalitis
Focal neurological signs
Focal seizures
Altered levels of consciousness
Fever + Symptoms and signs: pneumonia
Tachypnoea
Crackles in the chest
Nasal flaring
Chest indrawing
Cyanosis
SaO2 <95%
Fever + Symptoms and signs: UTI
Vomiting
Poor feeding
Lethargy
Irritability
Abdominal pain or tenderness
Urinary frequency or dysuria
Offensive urine/haematuria
Fever + Symptoms and signs: septic arthritis/osteomyelitis
Swelling of limb or joint
Not using an extremity
Not weight bearing
Fever + Symptoms and signs: Kawasaki
Fever lasting >5d and at least 4 from:
bilaterla conjuncitval injection
change in URT mucous membranes
Change in the peripheral extremitis
Polymorphous rash
Cervical lymphadenopathy
What are the most common causes of pharyngitis?
Adenovirus, enterovirus, rhinovirus
In older children Group A beta haemolytic strep
Def: tonsilitis
Form of pharyngitis where there is intensive inflammation of the tonsils, often with a purulent exudate
Common pathogens causing tonsilits?
Group A beta haemolytic strep
EBV
What differentiates between EBV and GAS tonsilitis
EBV surface exudate is more membranous, group a strep commonly gives a constitutional disturbance and has a white tonsilar exudate
EBV tonsiltiis
Group A strep tonsilitis
Mx of tonsilitis
Do not examine if ?acute epiglottitis
Assess airway and ability to feed
Abx commonly given, often penicllin or erythromycin if pen allergic
Analgesic with ibuprofen
NB: avoid amoxicillin as maculopapular rash may develop secondary to EBV.
This is to eradicate organism: 10d of antibiotics
Admit if unable to swallow solids/liquids.
Centor score components
<14 or >45 = +1
Exudate or swelling on tonsils
Tender/swollen anterior cervical lymph nodes
Fever >38
Cough absent
2 or 3: throat culture and treat with antibiotic
4-5 points: treat empirically with an antibioitc -risk of strep infection 56%
Indications for tonsillectomy
Useful in children with recurrent tonsilitis
Recurrent severe tonsilltiis
A peritonsillar abscess
Obstructive sleep apnoea
Quinsy abscess
Indications for adenoidectomy
Grow faster than airway between 2-8y of age
Can cause narrowing of the airway lumen
Recurrent otitis media with effusion and hearing loss
Obstructive sleep apnoea (absolute indication)
Symptoms of HSV
Asymptomatic
Gingiovstomatitis: most common manifestation of the virus in children, painful vesciles on the muth, hard palate, lips and tongue
Herpetic eczema
Herpetic whitlows: oedmatous white pusttules on the site of broken skin on the fingers
Eye infection
Meningitis/encephalitis
Penumonia and disseminated infeciton in the immunocompromised
Cx of EBV
Swelling of the pharynx so that is causes airway obstruction and difficulties feeding
Symptoms of EBV infection
Fever
Malaise
Tonsilopharyngitis limiting oral intake
Cervical lymphadenoathpy
Hepatosplenomegaly
Maculopapular rash
Jaundice
Petechiae on the soft palate
Ix in EBV
Atypical lymphocytes
Monospot test
Abs vs EBV
Mx of EBV
Supportive
Steroids if airway is compromsed
5% grow strep so treat with penicllin (not ampicillin or amoxicillin as these will cause florid maculopapular rash)
Erythema infantiosum
Fever
Malaise
Myalgia
Slapped cheek
Complications: arthrtis, arthralgia, aplastic anaemia
Causes fetal hydrops in utero
Caused by parvovirus B19
Erythema infectiosum (slapped cheek)
Coxsackie virus causes?
Hand, foot and mouth disease
Features of hand foot and mouth
Painful vesciular lesions on the hands, feet, mouth and tongue and often on the buttocks
Mild systemic features
Subsides within a few days with fluids and analgesia
Bornholms Disease
Bornholm disease or epidemic pleurodynia or epidemic myalgia[1] is a disease caused by the Coxsackie B virus or other viruses.[2]
Pleuritic chest pain, fever, myalgia- resolves within a few days
Draw the clinical features of chickenpox
What is the typical rash in chickenpox?
200-500 lesions start on head and trunk progressing to peripheries.
Appear as crops of papules, vesicles with surrounding erythema and pustules at different times
Itching and scratching may cause scarring.
If new lesions appear beyond 10d suggestive of defective cellular immunity
What are the cx of chickenpox
Bacterial superinfection:
Staph, strep
May lead to toxic shock syndrome or necrotising fasciitis
CNS:
Cerebellitis
Generalised encephalitis
Aseptic meningitis
Immunocompromised:
Haemorrhagic lesions
Pneumonitis
Progressive and disseminated infection
DIC
Rash in measles
Starts behind the ears, spreads downwards to the whole of the body
Discrete maculopapular rash intitially whch becomes blotchy and confluent
May desquamate
Draw the clinical course of measles
What are the symptoms of mumps
Fever
Malaise
Parotitis: pain on chewing or swalling
Transient unilateral heaing loss
Cx of mumps
Meningitis/encephalitis
Orchitis
Pancreatitis
Symptoms of rubella
Low grade fever
Maculopapular rash (non itch unlike adults)
Post auricular lymphadenopathy
Mx of Lyme disease
>12y: doxy
<12: amoxicillin
Neuro or cardio: IV ceftraixone
Treatment of impetigo
Topical abx e.g. mupirocin
More severe infections: fluclox or co-amoxiclav (as children prefer the taste)
Nasal carriage can be eradicated with a nasal cream containing mupirocin or chlorhexidine and neomycin
Aetiology of peri-orbital cellulitis?
Infants:
Staph or strep
Hib in unvaccinatied or trauma
Older: dental abscess or paranasal sinus infection
Symptoms of peri-orbital cellulitis
Tenderness, oedema of the eyelid, erythema and fever
Cx of periorbital cellulitis
Orbital cellulitis: if left untreated, can get pain on ocular movementm, proptosis, decreased visual actuity
Can progress to abscess formation, meningitis and cavernous sinus thrombosis
Ix in peri-orbital cellultis?
CT to exclude posterior spread
LP to exclude menignits
Mx of peri-orbital cellulitis
IV Abx to prevent posterior spread
Peri-orbital cellultitis
SCALDED SKIN SYNDROME
Infection and separation of the epidermal to granular layers due to an exfoliative staph toxin. Rare.
fever and malaise
a purulent, crusting, localised infection around the eyes, nose and mouth with subsequent widespread
erythema and tenderness of the skin.
Areas of epidermis separate on gentle pressure (Nikolsky sign), leaving denuded areas of skin which subsequently dry and heal without scarring.
Mx of scalded skin syndrome
IV Abx
Analgesia
Fluid maintenance
Scalded skin syndrome
Necrotising fascititis
Severe skin infection extending from the dermis_> fascia-> muscle
Caused by Staph or Group A strep +/- anaerobic bacteria
Systemically unwell
Severe pain
Necrotic centre with damaged tissue
Mx of necrotising fascititis
IV Abx
Surgical debridement
Possible ICU admission
Necrotising fasciitis
Pathophysiology of bacterial meningitis
Infection of the meninges usually follow bacteraemia
Inflammation and endothelial damage à cerebral oedema
à raised ICP à decreased blood flow à CEREBRAL CORTICAL INFARCTION
Fibrin deposits block CSF resorption by the arachnoid villi
à hydrocephalus
Meningitis in the Neonate-3m
GBS
E Coli and other coliforms
lIsteria
Meningitis in 1m-6y
N meningitidies
Strep penumoniae
HiB
Meningitis >6y
Neisseria meningitidis
Strep penumoniae
Cx of meningitis
Hearing loss
Local vasculitis
Local cerebral infarctaion
Subdural effusion
Hydrocephalus
Cerebral abscess
Signs of raised ICP in child
Reduce conscious level
Abnormal papillary response
Abnormal posturing
Kernig’s sign
With the child lying supine and with hips and kness flexed, there is back pain on extension of the knee
Cushing’s triad
Bradycardia
HTN
Abnormal pattern of breathing
= Raised ICP
Ix in meningitis
FBC and differential count
Blood glucose and blood gas
CRP and coag screen
U&Es
LFTs
MCS blood, throat swab, urine, stool
RAAT for meningitis organisms (blood, CSF, urine)
LP (CSF)
Mx of meningitis
Abx: third generation cephalosporin: cefotaxime or ceftriaxone
Dexamethasoone if beyond neonatal period to minimise risk of LT Cxs
Supportive
Prophylaxis with rifampicin
What are the contraindications to LP
Cardiorespiratory instability
Focal neurological signs
Signs of raised ICP
Coagulopathy
Thrombocytopenia
Local infection at site of LP
If it causes undue delay in starting antibiotics
Brudzinski sign
Flexion of the neck with the child supine causes flexion of the knees and hips
Aetiology of encephalitis
Direct invasion of the cerebrum by a neurotoxic virus (e.g. HSV)
Delayed brain swelling following a disordered neuroimmunological response to an antigen, usually a virus (post-infectious encephalopathy) e.g. following chickenpox
A slow virus infection, e.g. HIV or subacute sclerosing panencephalitis (SSPE) following measles
Enteroviruses, respiratory viruses and herpes virus (UK)
Mycoplasma, Borrelia burgdoferi, Bartonella henselae, rickettsial infections and the arboviruses (worldwide)
Ix in encephalitis
EEG and CT/MRI
PCR of CSF
Mx of encephalitis
High dose IV aciclovir even if HSV not confirmed
Proven cases should be treated with 3 weeks aciclovir as relapses can occur
What are the tropical causes of fever in a returning child
Malaria
Typhoid
Dengue
Gastroenteritis and dysentry
Viral haemorrhagic fevers
Cx of malaria
Severe anaemia
Cerebral malaria
Symptoms of malaria
Typically the onset is 7-10d after innoculation
Paroxysms of fever, shaking chills and sweats (every 48-72h)
Non-specific symptoms: headache, cough, fatigue, malaise, shaking chills, arthralgia, myalgia, D+V, nausea, lethargy jaundice
Ix in malaria
FBC clotting profile
U&Es
LFTs
Blood glucose and blood gas
Urinalysis
Giemsa-stained thick and thin blood film (thick confirms Dx, thin-spp)
Anti-malarial chemoprophylaxis
Quinine
Rx in malaria
Quinine-based Rx for P falciparum
Chloroquine for other forms
Cx of typhoid
GI perforation
Myocarditis, hepatitis, nephritis
Symptoms of typhoid
Worsening fever, dull frontal headaches, cough and abdominal pain, anorexia, malaise and myalgia
GI symptoms may not appear until the second week
Splenomegaly, bradycardia and rose-coloured spots on the trunk
Rx of typhoid
Cotrimoxazole, chloramphenicol or ampicillin
Multi-drug resistant: 3rd generation cephalosporin or azithromycin
Symtpoms of denge fever
Fine erythematous rash, high fever, headaches, arthralgia and myalgia, vomiting, haemorrhagic signs, lethargy
Hepatomegaly, abdominal distension
Severe forms: leukopenia, severe thrombocytopenia, haemorrhage, plasma leakage
Dengue haemorrhagic fever/Dengue shock syndrome
Previously infected child has a subsequent infection with a different strain of the virus
Severe capillary leak syndrome à hypotension & haemorrhagic manifestations
Ix in Kawasaki
Clinical evaluation
Inflammatory markers: CRP, ESR, WBC
Plt
Echo at 6w to confirm absence of aneurysm
No specific diagnostic test
Rx in Kawasaki
<10d: IVIG
Aspirin to reduce the risk at high anti-inflammatory dose
Second dose of IVIG if fever recurs
Persistent inflammation and fever:
Infliximab, steroids or ciclosporin
GCAA: LT warfarin therapy with close cardiology follow up
Mx of septicaemia
May require transfer to ICU
ABC
Airaway clearance and ventilation should correct any acidosis
Septic screen
Fluids
Montior CVP to assess fluid balance and urine output
Cardiogenic dysfunction: inotropic support
DIC: FFP, platelet transfsion
Abx
Sepsis 6
Deliver high-flow oxygen.
Take blood cultures.
Administer empiric intravenous antibiotics.
Measure serum lactate and send full blood count.
Start intravenous fluid resuscitation.
Commence accurate urine output measurement.
Causes of bronchiolotisis?
RSV (80%)
Human metapneumoviur
parainfluenza
rhinovirus
adenovirus
Bronchiolotis >1y?
Rare (0% are in 1-9m
Risk factors for severe bronchiolitis?
Prem with bronchopulmonary dysplasia/underlying lung disease/ congenitla heart disease
Cxs of bronchiolitis?
Permanent damage to ariways-> bronchiolitis obliterans (adenovirus)
Recrreunt cough and wheeze
What is the aetiological agent in bronchiolitis obliternas?
Adenovirus
Ix in bronchiolitis?
Pulse oximery
Blood gas (in severe disease): hypercarbia indication for ventilatory support
CXR rarely helpful
NPA PCR is goldstandard for Dx
Mx of bronchiolitis
Supportive
Infection control
Humidified O2 via nasal cannulae
+/- ventilation: CPAP, full
Infection control measures
Palivizumab
Preventative mAb vs RSV used in high risk prems
Bronchiolitis
Def: croup
Laryngoracheobronchitis
Muscoal inflammation and increased secretions affecting the airway
Oedema of the subglottic area-> tracheal narrowing
What year is croup most common?
Second year of life (6m to 6y)
Autumn
Causes of croup
95% viral:
parainfluenza
human metapneumovirus
RSV
IFV
Mx of croup
Most resolves spontaneously
Steroids: oral dexamethaonse/prednisolong, nebulised budenoside
Admit in severe illness, <1y, signs of dehydration
Nebulised epinephrine via facemask with anaesthetic input due to risk of rebound
Tracheal intubation
Features of acute epiglottitis
Occurs over hours
No preceing croyza
Absent cough
Unable to drink
Drooling slaiva
Very ill
>38.5 deg temperature
Soft, whispering striodr
Muffled voice
EMERGENCY
Cause of pneumonia in newborn?
Organisms from maternal genital tract e.g. GBS, gram _ve enterococci
Cause of pneumonia in infants?
Mainly viral: RSV
also pneumococcus, H infleunza
Infrequently but serious Staph
Causes of pneumonia in >5y
Mainly bacterial
M pneumoniae
Pneumococcus
Chlamydia penumoniae
Cx of pneumonia
Pleural effusion
Emphyema
Fibrin strands
Septations
Symptoms of penuemonia
Preceded by URTI-> fever, difficulty breathing
Cough, lethargy, poor feeding, localised chest/abdominal pain (suggestitve of bacterial)
Tachypnoeaic with nasal falring, chest indrawing classic consolidation signs
Ix of pnuemonia
NPA
FBC
CRP
ESR
CXR (not rountiely done)
Indications for admission in pneumonia?
If O2 <93, severe tachpynoea, SOB, grunting, apnoea, not feeding, family unable to support
Mx of pneumonia
Supportive: O2, analgesia, IV fluids
Abx:
Newborns: broadspectrum IV abx
Older infants: oral amoxicillin
Complicated/unresponsive- co-amoxiclav
>5 years: amoxicillin or ertythromycin
Drainage of empyema with a a chest drain +/- urokinase (fibrinolytic)
Chest examination in CF and Ix
Hyperinflated chest
Coarse inspiratory crackles/expiratory wheeze
Clubbing
Low elastase in faees suggestive of pancreatic insufficiency
LFT
FBC
CXR if infection suspected.
Dx of CF
Heel prick testing
Sweat test
Confrimation through genotyping
CF sweat test
Sweat stimulated by pilocarpine
Sweat collected in capillary tube or special filter paper
Measures concentration of chloride in sweat
Cl cut offs in CF
60-125= CF
10-40= normal
Treatment of uncomplicated meconium ileus
Gastrografin enema
My require surgery
Respiratory mx of CF
Regular spirometry
BD PT
Continuous oral abx- fluclox as a prophylactic
Azithromycin can also be given dialy
Infections due to P aeuriginosa can cause rapid deterioriation- daily nebulised antipseudomonal
Neublised DNAse and hypertonic saline can be used to decrease viscosity
Bilateral luing transplant is the only treatment for end stage CF
Nutritional Mx of CF
Pancreatic insufficeincy treateed with enteric coated pancreatic replacement therapy taken with all meals and snacks
High calorie, high fat diet
Regular ursodeoxycholic acid improveds bile flow
Intestinal obstructions can be cleared by gastrografin
MDT of CF
PT
Dieticias
Teachers
Primary care team
Specialist nurse
Non-respiratory problems of CF
DM
Delayed puberty
Biliary atresia
Male infertility
Hx in CF
Chronic cough +/- wheezing
Frequent chest infections
FTT
Frequent, bulky, greay stools
History of meconium ileus
FHx of CF
Def: laryngomalacia
Congenital cause of upper airway obstruction
Aetiology of laryngomalacia
Most common congential laryngeal abnromality is where the larynx is soft and floppy and collapses during breathing due to abnormalities of the laryngeal cartilage
Cx of laryngomalacia
Associated with GORD
Resp distress and FTT is rare
20% have another airway abnormality
Symptoms of laryngomalacia
Inspiratory stridoer in an otherwise well child in the first few weeks of life
Stridor exacerbated by:
crying
feeding
lying supin
intercurrent chest infection
DDx for pneumonia
URTI
Bronchiolitis
Asthma
Non-specific viral infection
Inhaled foreing body
What differentiates between viral and bacterial aetiology on a CXR in pneumonia
Bacterial is focal
Viral may be difssue
Features of mycoplasma pneumonia
Insidious onset
Cold agglutinins
DDx for laryngomalacia
Laryngeal web
Laryngeal atresia
Gold standard Dx for laryngomalacia
Flexible laryngoxcopy reveals an omega shaped epiglottis and prolapse over the larynx during inspiration
Mx of laryngomalacia
Strioder may worsen in first 6m but usually resolves after 2y
O2 sats monitored
Watch and wait approach with treatment of concurrent infection or GORD
Sx for severe cases: FTT, cor pulmonale, obstructive sleep apnoea
What is the most common chronic respiratory disorder of childhood?
Heart failure
Causes of heart failure in newborn
Due to obstructed systemic circulation:
Hypoplastic left heart syndrome
Crticial aortic valve stenosis
Severe coarctation of the aorta
Interruption of arotic arch
Causes of heart failure in infants
Due to high pulmonary blood flow:
VSD
AVSD
Large PDA
Causes of heart failure in older children
Rheumatic heart disease
Cardiomyopathy
Eisenmenger syndrome
Eisenmenger syndrome
Irreversibly raised pulmonary vascular resistance resulting from chronically raised pulmonary arterial pressure and flow
Risk factors for heart failure in children
Familial
Intrauterine e.g. rubella
Drugs: Li and ETOH
Maternal DM
Maternal PKU
Prem
Symptoms of heart failure
Breathlessness
Poor feeding
Recurrent chest pain
Sweating
Cardiomegaly
Gallop rhythm
Tachycardia
Hepatomegaly
Cool peripheries
Ix in HF
Clinical
Neonatal murmurs
Blood gases
Full infection to exclude other causes of CV collapse
Echo is gold standard
Cardiac catheterisation may be necessary for more severe cases to assess the extent of the problem
Conditions to consider in infant with tachypnoea or wheeze
Bronchiolitis
Pneumonia
Trnaisnt early wheezing
Non-atpopic wheezing
Atopic asthma
Cardiac failure
Inhaled foreign body
Aspiration of feed
Causes of URT obstruction
Croup
Epiglottis
Bacterial tracheitis
Smoke inhalation
Trauma
Retropharyngeal abscess
Laryngeal foreign body
Allergic larygneal angioedema (seen in anaphylaxis and recurrent croup)
Hypocalcaemia
EBV causing severe cervical node swelling
Measles
Diptheria
Which age group most at risk of forgein body aspiration
Toddlers
Where is foreign body most commonly found
Right main bronchus
Mx of inahled forgein body?
Heimlich
Bronschoscopy
Features of bacterial tracheitis
High fever, toxic
Loud, harsh stridor
Conditions to consider in child with stridor
Croup
Epiglottitis
Bacterial tracheitis
Inhaled foreing body
Laryngomalacia
Aetiology of asthma
Bronchial inflammation
Bronchial hyperresposiveness
Airway narrowing
Risk facors for asthma
Genetic predisposition
Atopy: eczema, rhinocojunctivitis, food allergy
Environmental triggers: URIT, allergens, smoking, cold air, exercise, anxiety
Key features of asthma
Wheeze: polyphonic on more than one occasion
Cough, breathlessness, chest tightness
Worse at night/early morning
Triggered e.g. exercise, pets, dust
Interval (symptoms occur between acute exacerbations)
Positive Fhx
Positive response to asthma therapy
O/E asthma (longstanding
Hyperinflation
Generalised polyphonic expiratory wheeze
Prolonged expiratory phase
Harrison sulci
Examin skin: eczma, nasal mucosa and growth (impaired growth in severe asthma)
Harrison’s groove, also known as Harrison’s sulcus, is a horizontal groove along the lower border of the thorax corresponding to the costal insertion of the diaphragm; It is usually caused by chronic asthma or obstructive respiratory disease.
DDx in asthma
Trransient early wheezing
CF or bronchiectasis
Dx of asthma
Skin-prick
CXR rto rule out other conditions
PEFR either diary or before and after inhaling bronchodilator
Tests of lung funciton with spirometry gold standard can also trial asthma treatment to assess responsiveness
Give 2 exmaples of SABAs
Salbutamol
Terbutaline
What is an anticholinergic bronchodilator
Ipratorpium bromide
Give 3 examples of ICS
Budesonide
Beclometasone
Fluticasone
Mometasone
Give 2 examples of LABAs
Salmeterol
Formoterol
What drug class if theophylline
Methylxanthine
Give an example of an oral steroid
Prednisolone
What can be used for anti-IgE injection?
Omalizumab
What age group is GORD common in?
INfancy due to inappropriate relaxation of the LOS as a result of functional immaturity
Risk factors for GORD in infants?
Predominanly fluid diet
Persistent horizontal posture
Short intra-abdominal oesophageal length
Severe reflex: CP other neurodevelopmental disorders, Prems with coextant BPD, following oesophageal atrsia/diaphragmatic hernia surgery
Cx of GORD
FTT if sever vomiting
Oesophagitis: haematemesis, discomfort on feeding, IDA
Recurrent pulmonary aspiration: pneumonia, cough, wheeze
Sandifer syndrome
ATLEs
Sandifer syndrome
The classical symptoms of the syndrome are spasmodic torticollis and dystonia.[3][4][5] Nodding and rotation of the head, neck extension, gurgling, writhing movements of the limbs, and severe hypotonia have also been noted.[3]
Spasms may last for 1–3 minutes and may occur up to 10 times a day. Ingestion of food is often associated with occurrence of symptoms; this may result in reluctance to feed. Associated symptoms, such as epigastric discomfort, vomiting (which may involve blood) and abnormal eye movements have been reported. Clinical signs may also include anaemia.[2]
Associated with GORD
ATLE
An apparent life-threatening event (ALTE) describes an acute, unexpected change in an infant’s breathing, appearance, or behavior that is frightening to the parent or caretaker. It is not a specific diagnosis, but rather a “chief complaint” that brings an infant to medical attention.
Ix in GORD
Clinical: no investigations required unless atypical history/cxs/ failure to respond
24h oesophageal pH monitoring
Oesophageal endoscopy
Contrast study to exclude other causes
Mx of GORD
Majority resolve spontaneously by 12m
Thicken feed
30o head up prone positioning after feeds
Acid suppression (severe disease):
Ranitidine (H2R antag)
Omeprazole (PPI)
Domperidone (enhances gastric emptying)
Nissen’s fundopplication
Def: post nasal sinusitis
Infection of the paranasal sinuses
Frontal sinusitis very rare in childhood as frontal sinuses have nt developed
Caused by viral URTIs, occasionally secondary bacterial infection
Mx post nasal sinusitis
Abx
Analgesia
Topical decongestants
intranasal corticosteroids or antihistamines
Transmision of TB in children?
Contract from adult, they are less likely to spread as disease is paucibacillary
Signs/symptoms of TB
Priamry infection-> dormancy-> reactivation to post-priamry TB
Systemic symptoms:
FLAWS
Cough
Dx of TB
CXR: Ghon complex, hilar lymphadenopathy
Sputum MCS (unobtainable from children <8): Gastric washings on 3 consecutive mornings
Mantoux
Urinalysis
LN
CSF and radiological examination as appropriate
IFNg release assays can help assess T cell response to TB antigens
Coinfection with HIV makes dx difficult as Mnatoux and IGRA are both negative due to immunosuppression
Ghon’s complex
Ghon’s complex is a lesion seen in the lung that is caused by tuberculosis. The lesions consist of a calcified focus of infection and an associated lymph node.
Ghon complex
Dx of TB gold standard
3 consecutive sputum samples stained with Ziehl-Neelsen for FAAB and cultured on Lowenstein-Jense
Can take 4-8w
Sensitivity can take a further 3-4w
Empirical abx
Mx of TB
RIPE
Dexamethasone in tuberculous meningitis
Mx of mantoux-positive but asymptomatic children
RI for 3m to prevent reactivation
Prevention and contact tracing in TB
BCG
Screen household
Def: bronchiectassis
Permanent dilation of bronchi due to the destruction of the elastic and muscular components of the bronchial wall
Caused by recurrent inflammation or infection of the airways. Occasionally begins in childhood following a severe lung infection or inhaling of a foreign object
Risk factors for bronchiectasis
CF
Host immunodeficiency
Previous infections
Congential diosrders of the bronchial airways
Priamry ciliary dyskinesia
Symptoms of bronchiectasis
Chronic cough with sputum
Dyspnoea and fever
Cyanosis, haemoptysis, fatigue
Breath odor, weight loss, wheezing, clubbing
Examination findings in bronchiectasis?
Crackles
High-pitched inspiratory squeaks and ronchi
Dx of bronchiectasis
CXR
HRCT: gold standard
FBC
Sputum MCS
Test if ?underlying disorder
Mx of bronchiectasis
Exercise and improved nutrition
Airway clearance therapy: PT and postural drainage
Drugs
Inhaled SABA
Inaheld hyperosmolar agent: nebulised hypertonic saline
Long term azithromycin
Cx in inhaled foreing body?
Inflammation and infection
Partial/total airway blockage
Pneumonia
Pneumothorax
Subglottic oedema
Lung abscesses
Bronchiectasis
Triad in inhaled foreign body
Coughing/choking
Wheezing
Unilateral reduced breath sounds
(+respiratory distress)
Causes of acute diarrhoea
Viral gastroenteritis
Bacterial gastroenteritis (shigella, E Coli, Salmonella, campylobacter)
Extraintestinal infections
Antibiotic induced
Normal stool pattern in a breat fed 0-4m old
2-4 per day (1-7=range)
Yellow to golden, porrdigy consistency
Infrequency is also normal (up to once per week)
Normal stool pattern in bottle fed 0-4m old
2-3 per day
Pale yellow to light brown
pH7
Normal stool pattern in 4m-1y/o
1-3 per day
Darker yellow
Firm
Normal stool pattern >1y/o
Formed like adult stool in odour and colour
Ix in acute diarrhoe and indication
Stool microscopy and culture: blood/mucus (bacterial enteritis
Stool immunoassay: hospitalised child (rotavirus)
Blood count: high fever (?bacterial infection)
Blood and urine culture, CXR: ?extraintestinal infeciton (bacterial)
Age <2y/o
Watery stool
Occasional pain
Rare fits
Vomiting common
High fever common
In winter
Rotavirus
Age 1-5y
Watery, blood, mucus, pus in stool
Painful
10% fit
Vomiting common
High fever common
Usually late summer
Shigella
<2 y/o
Loose stool
Painful
Rare fits
Vomiting common
Rare fever
Usually late summer
E Coli
Any age
Loose and slimy stool
Painful
Rare fits
Vomiting common
High fever common
Usually late summer
Salmonella
Any age
Water, blood, mucus in stool
Painful
Rarely fits
Rarely vomits
Common fever
Usually late summer
Campylobacter
Common causes of chronic or recurrent diarrhoea
Watery
Fatty
Bloody
Nonspecific diarrhoea
Toddler diarrhoea
Lactose intolerance
Parasites: Giardia
Cow’s milk protein allergy
Overflow diarrhoea in constipation
CF
Coeliac
UC
Crohn’s
Ix in chronic diarrhoea
Bloods:
FBC
ESR
Coeliac Abs
Stool:
Occult blood
Ova and parasites
Reducing substances and pH
Chymotrypsin
Microscopy for fat globules
Other:
Urine MC+S
Sweat test
Breath hydrogen test
Jejunal biopsy
Barium meal and enema
Endoscopy
Causes of vomiting in infants?
GORD
Feeding problems
Infection:
Gastroenteritis
RT/otitis media
Pertussis
UTI
Meningitis
Dietary protein intolerances
Intestinal obstrucion:
py sten
Atresia
Intussuception
Malrotation
Volvulus
Duplication cysts
Strangulated hernia
Hirschprung
Inborn errors of metabolism
CAH
Renal failure
Causes of vomiting in preschool children?
Gastroenteritis
Infeciton:
RT
UTI
Meningitis
Pertussis
Appendicitis
Intestinal obstruction:
Intussuception
Malrotation
Volvulus
Adhesions
Foreign body: bezoar
Raised ICP
Coeliac
Renal failure
Inborn errors of metabolism
Torsion of testis
Causes of vomiting in school-age adolescents
Gastroenteritis
Infections: pyelonephritis, septicaemia, meningitis
Peptic ulceration (H. pylori) Appendicits
Migraine
Raised ICP
Coeliac
Renal failure
DKA
ETOH/drug ingestion
Cyclical vomiting syndrome
Bulimia/AN
Pregnancy
Torsion
Cyclical vomiting syndrome
Cyclical vomiting syndrome (CVS) is a rare vomiting disorder most commonly seen in children, although it can affect adults too.
Someone with CVS will frequently feel very sick and will vomit for hours, or even days, at a time.
They will then recover from the episode and feel perfectly well, before experiencing another episode perhaps a month or so later.
These vomiting attacks are not explained by an infection or other illness.
CVS can affect a person for months, years or even decades. Symptoms can be so severe that some sufferers may need to stay in bed and be treated in hospital during an episode.
What are the red flag symptoms in a vomiting child
Bile stained
Haematemesis
Projectile vomiting in first few weeks of life
Vomiting at the end of paroxysmal coughing
Abdominal tenderness, abdo pain
Abdominal distension
Hepatosplenogmegaly
Blood in stool
Severe dehydration or shock
Bulging fontanelle or seizures
FTT
What are the red flag symptoms in a vomiting child
Bile staind vomit
Intestinal obstruction
What are the red flag symptoms in a vomiting child
Haematemesis
Oesophagitis
Peptic ulceration
Oral/nasal bleeding
What are the red flag symptoms in a vomiting child
Vomiting at the end of paroxysmal coughing
Pertussis
What are the red flag symptoms in a vomiting child
Abdominal tenderness/pain on movement
Surgical abdomen
What are the red flag symptoms in a vomiting child
Abdominal distension
Intestinal obstruction including strangulated inguinal hernia
What are the red flag symptoms in a vomiting child
Hepatosplenomegaly
Chronic liver disease
What are the red flag symptoms in a vomiting child
Blood in stool
Intussuception
Gastroenteritis: salmonella or campylobacter
What are the red flag symptoms in a vomiting child
Severe dehydration/shock
Severe gastroenteritis
Systemic infection (UTI, septicaemia, meningitis)
DKA
What are the red flag symptoms in a vomiting child
Bulging fontanelle or seziures
Raised ICP
What are the red flag symptoms in a vomiting child
FTT
GORD
Coeliac
Other chronic GI conditions
Presentation of gastroenteritis
Sudden onset, <7d
Diarrhoea and vomiting <3d
Fever
infectious contact/history of recent travel
What is the length of adenoviral gastroenteritis?
>14d
What are the complications of gastroenteritis?
Dehydration (5-10%- dehydration, >10%- shock)
Changes in plasma Na
What Na state leads to more recognisable signs of dehydration?
Hyponatraemia
Increased H2O intake
!cerebral oedema, fluid shift gives sign of dehydration
What are the issues with hypernatraemic dehydration
Insensible water losses, signs of dehydration are less obvious
There may be cerebral shrinkage
Neurological symptoms may be prominenet e.g. hyperreflexia, hypertonia, jitters, convulsions, transient hyperglycaemia
Mx of gastroenteritis
If no dehydration:
Cotinue feeding, increase fluid intake, decrease fruit/juice/carbonated drinks
Oral rehydration supplentations: low osmolarity e.g. diarolyte (50ml/kg often and in small amounts)
If persists IV fluids 50ml/kg
If in shock IV fluids
Monitor electrolytes, urea, creatinine, glucose
Abx if sepsis, immunocompromised or blood and mucus in stool
Ampicillin, co-trimoxazole, cephalosporins
Increase nutritional intake +/- Zn
Advise re hand hygiene, not sharing towels, 48h isolation, no swimming for 2w and nutritional management
What is post GE syndrome
Temporary lactose intolerance
Can be invesatiageted with clinitest: non-absorbed sugar in stools
Mx ORS then return
Severe cases may require dietician referral
IV fluids in shocked child
NG if possible
NS 0.9% +/0 5% dextrose
Bolus of 20ml/kg
Replace fluid deficit (100ml/kg) + maintenance fluids
How to calculate IV fluid replacement
1st 10kg: 100ml/kg/d
2nd 10kg: 50ml/kg/d
Then 20ml/kg/d until 50kg
Replace over >48h, reduce Na <0.5mM/l/hr
What are the conditions that can mimic gastroenteritis
Systemic infeciotn: septicaemia, meningitis
Local infection: RTI, otitis media, Hep A, UTI
Surgical: Py sten, intussuception, acute appendicits, NEC, Hirschprung
Metabolic: DKA
Renal: HUS
Other: coeliac, CMPI, adrenal insufficiency
What are the clinical features of shock from dehydration in an infant
Decreased level of consciousness
Sunken fontanelle
Dry mucous membranes
Eyes sunken and tearless
Prolonged CRT
Tachypnoea
Tachycardia
Weak peripheral pulse
Pale or mottled skin
Hypotension
Sudden weight loss
Reduce UO
Cold extremities
Reduced tissue turgor
What are the red flags that help identify a child at risk of progression to shock?
Appears unwell or deteriorating
Altered responsiveness
Sunken eyes
Tachycardia
Tachypnoea
Reduced skin turgor
What is the intial fluid deficit in a child?
100ml/kg if shocked: 10% body weight
50ml/kg if not shocked: 5%
What age group is appendicits less common in?
<3y/o
What is the timecourse of appendicits?
6-12h full thickness inflammation of the abdominal wall
24-36h gangrenous and perforation
What are the complications of appendicitis
Perforation: omentum less well developed
Appendiceal mass
Abscesss
Ix in appendicitis
Repeated obs
USS (thickened, non-compressible appendix, increased blood flow)
Mx of appendicitis
If no signs of perf, Abx and elective surgery
If perforated- fluid resus, iv Abx prior to surger
Complications of py sten
Hypochloraemic metabolic alkalosis, low Na, low K
Ix in py sten
Test feed- gastric peristalsis L->R
Feels like a knuckle in RUG
If stomach is overdistended, should be emptied by NG tube to allow palpation
USS
Aetiology of py sten
Hypertrophy and hyperplasia of the pylorus muscle
Hx in py sten
Projectile vomiting immediately or just after feed
iNfant hungry immediately after vomit
Constipation
Symptoms of malrotation/volvulus
Obstruction +/- strangulation
Bilious vomiting (1st few days of life)
Abdo pain
Tenderness from peritonitis/ ischaemic bowel
Aetiology of malrotation/volvulus
Mesentry not flexed at the DJ flexure or IC region, shorter base means they are predisposed to volvulus
Ladd bands (peritoneal bands) obstructing the duodenum or volvulus
Cx of volvulus
Strangulation
Ix in malrotation
If dark green vomiting, contrast study to assess rotation
Mx of malrotation/volvulus
Urgent laparotomy if vascular compromise
Untwist volvulus
Mobilise duodenum
Malrotation not corrected but mesentry broadened
Intestinal malrotation
Intestinal malrotation is a congenital anomaly of rotation of the midgut (embryologically, the gut undergoes a complex rotation outside the abdomen). As a result:
the small bowel is found predominantly on the right side of the abdomen
the cecum is displaced (from its usual position in the right lower quadrant) into the epigastrium - right hypochondrium
the ligament of Treitz is displaced inferiorly and rightward
fibrous bands (of Ladd) course over the vertical portion of the duodenum (DII), causing intestinal obstruction.
the small intestine has an unusually narrow base, and therefore the midgut is prone to volvulus (a twisting that can obstruct the mesenteric blood vessels and cause intestinal ischemia).
How can the causes of acute abdominal pain be classified?
Intra-abdominal-
Surgical
Medical
Extra-abdominal
What are the surgical causes of acute abdo pain
Acute appendicitis
Intestinal obstruction
Inguinal hernia
Peritonitis
Inflamed Meckel diverticulum
Pancreatitis
Trauma
What are the medical causes of acute abdo pain
Non-specific abdo pain
GE
UT:
UTI, pyelonephritis, hydronephrosis, renal calculus
HSP
DKA
SCD
Hepatitis
IBD
Constipation
Recurrent abdo pain of childhood
Gynaecological
Psychological
Lead poisoning
Acute porphyria
Idiopathic
What are the extra-abdominal causes of acute abdo pain?
URTI
Lower lobe pneumonia
Torsion of the testis
Bony
Def: mesenteric adenitis
Isolated, non-specific inflammation of the mesenteric LNs
Dx of exclusion made when LNs are seen on laparotomy or laproscopy when the appendix is normal
Symptoms of mesenteric adenitis
Non-specific, self-limiting abdo pain
D+V
Nausea
Fever
Ix in mesenteric adenitis
USS
FBC
CRP
WCC
To exclude appendicitis
Gold standard: laparoscopic visualisation of large LNs
Aetiology of mesenteric adenitis
Likely to be viral infection
Appendicitis
UTI
Mx of mesenteric adenitis
Conservative
Painkillers
Considerations re bacterial spp causing UTI
E COli
Proteus: phosphate stones
Pseudomonas: ?structural abnormality
Strep faecalis
What are the risk factors for developing UTIs
Infrequent voiding
Vulvitis
Incomplete micturition-> residual post-mic bladder volume
Constipation
Neuropathic bladder
VUR
Posterior urethral valves
TIN CAN MED DIPS
Trauma
Infection
Inflammation
Neoplastic
Circulatory
Congeital
Autoimmune
Allergy
Nutrition
Metabolic
Musculoskeletal
Endocrine
Drugs
Degenerative
Iatrogenic
Psychosomatic
Structural
Symptoms of UTI in infants
Fever, vomiting, lethargy, off feeds, FTT, irritable, jaundice, septicaemia, offensive urine, febrile convulsions
Neonate=
Baby from birth to 4w
Infant=
4w-1y
Toddler=
1-2y
Pre-school=
2-5y
School-age=
Older child
Teenager=
Adolescent
Symptoms of UTI in children
Dysuria, frequency, abdo pain/loin tenderness, fever +/- rigors, lethargy, anorexia D+V,
Blood/offesnive/cloudy/recurrent enuresis
Febrile convulsion
Dysuria without systemic symptoms= lower UTI
Ix in typical UTI
Urine dipstick: WCC nitrites
MC+S
What is an atypical UTI?
If it leads to sepsis
Poor flow
Abdominal mass
Raised creatinine
non-E. Coli
No Abx response
Ix in atypical/recurrent UTI
USS: structural abnormalities, renal defects, scarring, check for posterior urethral valve in boys.
If something seen MCUG (<3y) or MAG3 for obstruction/VUR
DMSA for scars 3/12 post UTI
What is the difference between a DMSA, MAG3 and MCUG?
DMSA is an injection of radioactive dye, then they scan the kidneys and the machine picks up the dye. From this they can see how much dye each kidney is holding on to (it holds in the healthy areas of the kidneys) so they can see a precentage of each kidneys function and see which areas may be scarred from infections.
A Mag3 is similar in the way that they inject a dye, its just a coloured fluid this time then they scan the kidneys and bladder to watch how the fluid drians through the kidneys. They can see if any fluid is refluxing back up, if there are any blockages and they can see if the bladder is emptying itself properly.
An Mcug is agin similar thought here is no injection. The dye is inserted through a catheter, they scan and watch how the bladder drains.
What are the possible methods for sampling urine?
Clean catch
Adhesive plastic bag on perineum
Urethral catheter
Suprapubic aspiration
Antibiotic prophylaxis in UTI
Should not be routinely recommended in infants and children following first time UTI
CAn be considered with in children with recurrent UTI
Asyomptomatic bacturia should not be treated
Can use low dose trimethoprim or nitrofurantoin
Advice to parents re UTI
High fluid intake
High urine output
Regular voiding to complete micturition
Address constipation
Good perineal hygiene
Probiotics
Def: recurrent abdominal pain
Pain sufficeint to interrupt normal activities that lasts for >3m
Symptoms of recurrent abdominal pain
Chronic periumbilical pain in an otherwise well child
Ix in recurrent abdominal pain
Exclude organic issues
As well as
Social/psychiatric/psychological causes= insepction of perineum, check growth
Abdo USS stones at PUJ
Mx of recurrent abdominal pain
Family/school input
?abuse/stress
School avoidance
Address family’s understanding and concerns
Need to explain to child what the condition is about
Explain prognosis
Px of recurrent abdominal pain
50% symptoms resolve rapidly
1/4 of symptoms take months
1/4 return in adulthood as migraine, IBS
What are the symptoms and signs that suggest organic disease in a child with recurrent abdo pain
Epigastric pain at night, haematemesis (duodenal ulcer)
Diarrhoea, weight loss, FTT, blood in stools (IBD)
Vomiting (pancreatitis)
Jaundice (liver disease)
Dysuria, secondary enuresis (UTI)
Bilious vomiting and abdo distension (malrotation)
Def: intussuception
Invagination of proximal bowel into a distal segment. Most commonly ileum passing into caecum thru ileocaecal valve. Most common cause of obstruction after neonatal period, peak age between 3 months and 2 years
Cx of intussuception
stretching and constriction of the mesentery à venous obstruction à engorgement and bleeding of the bowel mucosa, fluid loss à perforation, peritonitis, necrosis
Aetiology of intussuception
Viral infexn à enlargement of Peyer’s patch may form a lead point. IN kids >2 à emckel diverticulum or polyp
What is the most common cause of obstruction peaking between 3m and 2y?
Intussuception
Symptoms in intussuception
- Paroxysmal, sever colicky pain an pallor esp around the mouth
- Draws up leg, initialy recoveres between painful episodes butsubsequently increasingly lethargic
- Refuses feeds, vomits can be bile=stained
- Sausage-chaped mass
- Redcurrant jelly stool + blood-stained mucus (late sign)
Abdo distension + shock
Ix in intussuception
USS
Mx of intussuception
IV fluid resuscitaiton: pooling of fluid in gut can precipitate hypovolaemic shock
Reduction by air insufflation unless signs of peritonitis
In which case, sx
Draw the constipation management algorithim
Involve dieticians
Offer advice on behavioural interventions for children started on maintenance laxative drug treatment. The intervention should be consistent with the child’s age and stage of development and may include:
Scheduled toileting — encourage the child to try and open their bowels at pre-planned intervals or activities, such as after each meal for five minutes, or before bedtime.
Use of a bowel habit diary — to track the frequency and consistency of stool. The ERIC Toilet Tool Wallchart may be helpful.
Use of encouragement and rewards systems — such as star charts incorporated into toileting routines, to help praise good behaviour such as visiting the toilet.
Give diet and lifestyle advice and information on recommended fluid intake if needed, in combination with advice on the early use of laxatives and behavioural interventions.
Foods with a high fibre content include fruit, vegetables, high-fibre bread, baked beans, and wholegrain breakfast cereals.
Do not recommend unprocessed bran (which may cause bloating and flatulence and reduces the absorption of micronutrients) or fibre supplements.
Def: fissure in ano
Tearing of tissue around the anal sphincter
Risk factors for fissure in ano
Trauma from hard stools, diarrhoea, snal instrumentation, low fibdre intake
Symptoms of fissure in ano
Severe anal pain – tearing/cutting/burning during or after defecation; PR bleed of bright red blood, itchy bum
Symptoms of crohn’s in children
Calssically: abdo pain, diarrhoea, weight loss, ?bloody stools
Growth failure, delayed puberty
Generally ill: fever, lethargy, weight loss
Extra-intestinal: oral lesions, perianal skin tags, anterior uveitisi, arthralgia, erythema nodosum, pyoderma gangrenosum
Endoscopic and histological findings on biopsy
Endoscope: actuely inflamed, thickened bowel à strictures of bowel and fistulae between adjacte bowel loops or with other organs
Histology: non-caseating epithelioid cell granulomata
Small bowel imaging: narrowing, fissureing, mucosal irregularitites and thickened bowel wall
Crohn’s
Mx of Crohn’s
Nutritional therapy: normal diet replaced with whole protein modular feeds (polymeric diet) for 6-8/52 if unresponsive, give systemic steroids
Remission maintenance: azathioprine, 5-mercaptopurine, methotrexate
Overnight NG feed can be used to correct growth failure
Requires complex MDT Mx
Cx of Crohn’s
Obstruction
Fistulae
Abscesss
Severe localised disease-> Sx
Post Sx: risk of short bowel syndrome: malodorous diarrhoea, vitamin/mineral malabsorption
Endoscopy: Confluent colitits extending from rectum proximally, for a vriable elgnth cf adults where diseae mainly confied to distal colon (kids have pancolitits)
Histology: mucosal inflammation, crypt damage, ulceration
Small bowel imaging: rule out the extra-colonic inflammation that suggests Crohns instead
UC
Mx of UC
Aminosalicylates (balsalazide, mesalazine for induction and maintenance)
Topical steroids can be used if it is refined to the rectum/sigmoid
Aggressive/extesnive disease requires systemic steroids and immunomodulatory drugs for maintenance
Severe fulminating disease: fluid resusc and steroids, ciclosporin i funresponsive
Def: meckel diverticulum
Ileal remnant of the vitello-intestina duct
Contains ectopic gastric mucosa or pancreatic tissue
Symptoms of a meckel diverticulum
Asymptomatic or present with severe rectal bleeding- niehter bright red nor true malaena. Can also present as intussusception, volvulus or diverticulitis
Ix in meckel diverticulum
Technecium scan – increased uptake by gastric mucosa
Mx MEckel diverticulum
Sx
Draw the mx of UTI
Draw scanning following UTI
<6m
6m-3y
>3y
Def: tension headache
Symmetrical diffuse headache with gradual onset with mild to mederate severity described as the feeling of a tight band across forehead.
Bilateral
Associated with stress
Red flags in headache
Acute, severe pain
Fever
Worse when lying down, coughing, straining
Waking child
Altered mental state
Vomiting/nausea
Focal neurology
Abnormal cerebellar signs
Bradycardia
Poor school performance/developmental regression
Consistent unilateral pain
Cranial bruit
HTN
Papilloedema
FTT
How to auscultate for cranial bruit
A bruit should be listened for, in quiet surroundings, over the skull and eyeballs, the latter situation being the most favourable for hearing the softest ones. The patient should be asked to close both eyes gently and the stethoscope firmly applied over one eye. During auscultation the other eye should be opened as in this way there is considerable diminution of eyelid flutter, which may cause confusion if rhythmical. Auscultation is then carried out over the other eye in a similar manner. If a murmur is not readily heard the patient should be asked to hold his breath. Finally auscultation should be carried out over the temporal fossæ and mastoid processes.
Def: migraine
Unilateral or bilateral pulsating headache which may or may not be characterised by an aura
Features of migraine without aura
Usually bilateral pulsating headache, Accompanied by GI disturbances and photophobia or phonophobia. Lasts 1-72hrs.
Features of migraine with aura
Negative phenomena, such as hemianopia (loss ofhalf the visual field) or scotoma (small areas of visual loss) OR Positive phenomena such as fortification spectra (seeing zigzag lines).
DDx migraine
Primary: migraine, cluster headache
Secondary headache: head/neck trauma, raised ICP, idiopathic intracranial HTN, SOL, vascular malformation, infection, sinusitis, psychiatric
IHS criteria for migraine in children (
Mx of migraine
Conservative often more effective: identification of triggers and predisposing factors.
Behavioural management: routine around sleeping and eating
Acute attack:
Paracetamol/ ibuprofen
Anti-emetics: domperidone, prochlorpromazine.
5HT agonistst can be used if simple analgesia fails e.g. sumitriptan. (Specialist only)
Prophylaxis (if severely impacting on school life):
Pizotifen (5HT antagonist) can cause weight gain and sleepiness
Beta blockers: propranolol (CI-ed in asthma)
Na channel blockers: Topimarate
Sympto9ms of myopia/hypermetropia
Headache when trying to read or reading from afar.
Ix in myopia/hypermetropia
Vision test, optician assessment
Exclude other organic pathology
Features of post-ictal headache
Post-seizure headache with features of tension type or migraine headache developing within 3 hours of a partial/generalised seizure resolving within 72h of seizure
Def: SOL
Solid tumour, hydrocephalus, haemorrhage
What are the causes of non-communicating hydrocephalus?
Obstruction of ventricular system e.g.
Chiari malformation
Aqueduct stenosis
Atresia of outflow foramina of fourth ventricle
Posterior fossa neoplasm
AVM
Intraventricular haemorrhage
Causes of communicating hydrocephalus
I.e. failure to reabsorb CSF:
SAH
Meningitis
Early effects of SOL
Raised ICP
Neurological problems
Mets
Death
Late effects of SOL
Neurological disability
Growth problems
Endocrine
Neuropsychological
Educational
What are the features of ICP?
- headache worse when lying down, coughing or straining
- headache waking child
- confusion
- vomiting/nausea
- cranial nerve abnormalities: visual defects/squint, diplopia, facial palsy etc
- abnormal coordination
- abnormal gait
- bradycardia
- poor school performance/regression of developmental skills
- consistent, unilateral pain
- cranial bruit -> arteriovenous malformation
- hypertension
- torticollis – neck twisting
- papilloedema (late feature)
- failure to thrive
Features of hydrocephalus in younger children?
- accelerated head growth
- bulging fontanelle
- separated sutures
- dilated scalp veins
- “setting sun” eyes – downward deviation of eyes
- “cracked pot” sound on skull percussion
- skull transillumination
in older children, hydrocephalus presents as raised ICP
Imaging in SOL
If red flags present: MRI
For hydrocephalus: cranial USS, CR or MRI: monitor head circumference
MRI for all children complaining of persistent back pain
for all children complaining of persistent back pain?
MRI
Features of tension headache
Band like, constricting
Towards end of day
No associated features
Normal physical examination
Features of migraine
Throbbing, unilateral headache
No specific timing
N+V, photophobia, FHx
Normal
Characteristics of raised ICP
Worse on lying down, may be localised to site
Early morning or waking at night
Vomiting without nausea
Slow pulse, high BP, papillodema, enlarging head circumference, focal signs
What are the types of fits seen in infancy
Apnoea and ALTEs
Febrile convulsions
Breath-holding
Infantile spasms
Epilepsy
Hypoglycaemia and metabolic conditions
Types of fits seen beyond infancy
Febrile convulsions
Breath-holding: cyanotic spells, pallid spells
Night terrors
Epilepsy
BPV
Fits seen in school age
Epilepsy
Syncope
Hyperventilation
Hysteria
Tics
Characteristics of ALTE
Usually found limp or twitching
No apparent precipitating event
EEG may be helpful
Feature of breath-holding spells (cyanotic)
Stops breathing, becomes cyanotic and extends, may lose consciousness. Becomes limp and breathes normally, no postictal state
Always precipitated by crying from pain or anger
EEG not indicated
Features of reflex anoxic spells (pallid)
Turns pale and collapses, rapid recovery
Precipitated by head or other minor injury
EEG not indicated for dx
Characteristic features of night terrors
Wakes from sleep disorientated and frightened. May have autonomic signs
Precipitating event: sleep
EEG not required for Dx
Characteristic features of BPV
Sudden unsteadiness
Frightened and clings to parent
No postictal state
EEG not required
Features of infantile spasms
Jack-knife spasms occuring in clusters with developmental regression
Often occur on waking
Hypsarrhythmia on EEG
Criteria for febrile convulsions
T >38
<6y/o
no CNS infeciton/inflammation
No acute systemic metabolic abnormality
No history of previous afevrile seizures
What are the complications of febrile convulsions
Complex febrile seizures: 4-12% risk of subsequent epilepsy
Symptoms of febrile convulsions
<20 mins generalised tonic clonic seizure
How can the causes of convulsions be classified?
Epileptic
Non-epileptic
What are the causes of epileptic seizures
Idiopathic
Tumour
Cerebral dysgenesis
Vascular occlusion
Cerebral damage (congenital infection, hypoxic-ischaemic encephalopathy, IVH)
What causes 70-80% of epilepsy?
Idiopathic
What are the non-epileptic causes of seizure
trauma, metabolic (hypoglyc, hypoCa, hypoMg, hypoNa, hyperNa), meningitis, encephalitis, poisons
Ix in febrile convulsions
BM
?Cause of fever, septic screen
Bloods
Exclude meningitis
What proportion of children will have recurrance of febrile seizure?
30%
Advice for parents with febrile convulsion in child?
What febrile seizures are.
How to treat fever at home - remove excess clothing, give fluids, give antipyretics if the child is uncomfortable. Tepid sponging or excessive cooling are not recommended. Check for a non-blanching rash, check for dehydration and stay with the child at night.
First aid if the child has a fit - position; do not put anything in their mouth.
When to call 999/112/911 ambulance - a seizure lasting more than five minutes.
When and how to seek urgent medical advice - any seizure, serious symptoms such as non-blanching rash, lack of normal alertness, dehydration, the child getting worse, the parent worried and fever for more than five days.
Mx of febrile convulsions
Supportive
Treat underlying cause of pyrexia
Abx if LP contraindicated
NB: antipyretics don’t prevent febrile seizures
What do for child with febrile convulsions if there is a history of prolonged seizures/epilepsy/poor access to hospital
Consider giving parents rectal diazepam or buccal midazolam
Confirmatory investigations in breath-holding spells?
Normal EEG
What is the difference between a generalised and a focal seizure
Generalised involves both hemispheres
Focal one hemisphere
Def: status epilepticus?
Status epilepticus = >30 mins, or repeated seizures without recovery of consciousness for 30mins
What are the features of focal seizures?
Usually asymmetric, may or may not have LOS, may proceed to tonic-clonic
Frontal: motor cortex, clonic movements
Temporal: commonest, aura, automatisms, deja-vu +/- impaired consciousness
Occipital- vision
Parietal- dysaesthesias
Features of generalised seizures
Always LOC, no warning, symettrical
Absecnce: transient LOC with flickering eyelids
Myoclonic: brief, repetitive jerking movements of limbs, neck, trunk
Tonic- generalised increased tone
Tonic-clonic: rigid tonic phase (with cyanosis) then clonic (rhythmical muscle contraction) and tongue biting, incontinence, followed by fatigue
Atonic
Ix in epilepsy
Examination: check for neurocutaenous syndrome
EEG: NB may have normal EEG or may show neuronal hyperexcitability or asymmetry
If normal consider sleep deprived record or 24h ambulatory
MRI and CT are not routine unless focal signs
+/- PET
Metabolic investigaitons if there is associated developmental regression
Mx of epilepsy
Explanation and advice
AED treatment
Stop AEDs after 2 yeasr seziure free
Can drive if >1y seizure free
Atonic seizure
Often combined with a myoclonic jerk followed by transient loss of muscle tone causing a sudden fall to the floor or droop of the head
Treatment of West syndrome?
Vigabatrin or corticosteroids
Many subsequently develop LD or epilepsy
Features of Lennox-Gastaut Syndrome
Seen in 1-3y/o
Multiple seizure types, mostly drop attacks (astatic seizures), tonic seizures and atypical absences
Neurodevelopmental arrest or regression and behaviour disorder
Often other complex neurological problems
Px is poor
Features of childhood absence epilepsy
Stare momentarily and stop moving, may twitch eyelids or hands. Lasts <30s.
Child has no recall
Normal developmentally
2/3rds female
Can be induced by hyperventilation: ask children to blow on a piece of paper for 2-3 mins.
Good Px
Features of BECTS
Benign Epilepsy with centritemproal spikes
4-10y
Tonic-clonic seizures in sleep or simple focal seziures with awareness of abnormal feelings.
15% of all childhood epilepsies
EEG shows focal sharp waves from the Rolandic or centrotemproal area
Features of early onset benign childhood occipital epilepsy
1-14 y.o
Younger children: periods of unresponsiveness, eye deviation, vomiting and autonomic features
Older children: headache and visual disturbances including distortion of images and hallucinations
UNcommon
EEG shows occcipital discharges
Remits
Features of juvenile myoclonic epilepsy
Adolescence-adulthood
Myoclonic seizures but generaelised tonic-clonic and absences may occur
Characteristic EEG
Good response to treatment
First line Rx in tonic-clonic seizures
VPA, carbamazepine
Second line Rx in tonic-clonic
Lamotrigine, topiramate
First line Rx in absence seziures
Valproate
Ethosuximide
Second line Rx in absence
Lamotrigine
First line Rx in myoclonic
Valproate
Second line Rx in myoclonic
Lamotrigine
First line Rx in focal seizures
Lamotrigine most effective
Carbamazepine
Valproate
Second line Rx in focal seizures
Topiramate
Levetiracetam
Oxcarbazepine, gabapentin, tiagabine, vigabatrin
ADEs in valpriate
Weight gain
Hair loss
Rarely idiosyncratic liver failure
ADEs in carbamazepine
Rash
Neutropenia
Hyponetraemia
Ataxia
Liver enzyme induction
ADEs in vigabatrin
Restriction of visual fields which has limited its use
Sedation
ADEs in lamotrigine
Rash
ADEs in ethosuximide
N+V
ADEs in topiramate
Drowsiness, withdrawal and weight loss
ADEs in gabapentin
Insomnia
ADEs in leveritacetam
Sedation
Parital seizures Ix
Imaging studies
Mx of status epilepticus
Def: status epilepticus
Seizures >5 mins
Or with no regaining of consciousn ess between them
NB for Rx used in status epilepticus
All of the drugs may cause or compound pre-existing respiratory depression and thus mechanical ventilation may subsequently be required
Features of reflex anoxic seizure
- infants/toddlers
- pain/discomfort esp minor head trauma, cold food, fright/fever
- pale, lose consciousness, may induce generalised tonic-clonic
- due to cardiac asystole from vagal inhibition
- spontaneous resolution
How to use rectal diazepam
Knee-chest position on side
INsert nozzle gently through anus up to hilt of spout
Squeeze contents of tube into child’s rectum over 2-3 minutes
Remove applicator and lie child in recovery position
How to use buccal midazolam
Liquid into the side of the mouth between the gums and cheeks
Given slowly using a plastic syringe
Divide dose- one on one side, one on the other
Watch for reduction of breathing or cessation of seizure activity
Corticospinal tract disorders causing seizures
Cerebral dysgenesis
Global hypoxia-ischaemia
Arterial ischaemic stroke
Cerebral tumour
Acute disseminated encephalomyelitis
Post-ictal paresis
Hemiplegic migraine
Basal ganglia disorders causing seizures
Acquired brain injury:
Acute and profound hypoxia-iscahemia, CO poisoning, post cardiopulmoanry bypass chorea
Post-streptococcal chorea
Mitochondrial cytopathis
Wilson’s
HD
Cerebellar disorders causing seizures
Acute: medication and drugs
Post-viral: esp varicella
Posterior fossa lesions or tumours e.g. medulloblastoma
Genetic and degenerative disorders e.g. friedrich ataxia, ataxic cerebal palsy
Causes of an acute painful limp in 1-3 y/o
Infection: septic arthritis, osteomyelitis of the hip or spine
Transient synovitis
Trauma: accidental or NAI
Malignant disease: leukaemia, neuroblastome
Causes of a chronic and intermittent limp in a 1-3y/o
DDH
Talipes
Neuromuscular e.g. CP
JIA
Causes of an acute painful limp in 3-10y/o
Transient synovitis
Septic arthritis/osteomyelitis
Trauma and overuse injuries
Perthes disease (acute)
JIA
Malignant disease e.g. leukaemia
Complex regional pain syndrome
Causes of chronic and intermittent limp in 3-10y/o
Perthes disease (chronic)
Neuromuscular disorders e.g. DMD
JIA
Tarsal coalition
Talipes
Club foot or clubfoot, also called congenital talipes equinovarus (CTEV), is a congenital deformity involving one foot or both. The affected foot appears to have been rotated internally at the ankle.
Tarsal coalition
A tarsal coalition is an abnormal connection that develops between two bones in the back of the foot (the tarsal bones). This abnormal connection, which can be composed of bone, cartilage, or fibrous tissue, may lead to limited motion and pain in one or both feet.
Causes of an acute painful limp in 11-16y/o
Mechanical trauma
Slipped femoral epihpysis
Avascular necrosis of the femoral head
Reactive arthritis
JIA
Septic arthritis/osteomyelitis
Osteochondritis dissecans of the knee
Bone tumours and malignancy
Complex regional pain syndrome
Causes of a chronic and intermittent limp in 11-16y/o
Slipped femoral epihpysis (chronic)
JIA
Tarsal coalition
Causes of swollen joints
Trauma
Infection
Reactive arthritis
Vasculitis
Collagen vascular disease
Haematological
GI
Malignancy
Trauma
Septic arthritis, viral
Post-streptococcal or gastrointestinal infections
HSP
JIA, SLE
Leukaemia, haemophilia, SCD
UC, Crohn’s
Leukaemia
Ix in leg pain
FBC: leukaemia, infections, colalgen vascular disease
Plasma viscosity: infections
ESR: collagen vascular disease
CRP
XR: tumours, infection, trauma, avascular necrosis, leukaemia, slipped capital femoral epiphysis
Bone scan: osteomyelitis, stress factures, malignant tumours
Muscle enzymes: damage to muscle cells
Ix in swollen joint
FBC: infection, collagen vascular disease
ESR and plasma viscosity
Blood culture: septic arthritis
ASO titre: indicative of recent streptococcal infection
Viral titres
RF and ANA: negative in most forms of JIA
XR
Joint aspiration: MC+S
Causesof polyarthritis
Infection
IBD
Vasculitis
Haematological
Malignant
CTD
Other
Bacterial: septcaemia, septic arthritis, TB
Viral: rubella, mumps, adenovirus, coxsackie B, herpes, hepatitis, parvovirus
Other: mycoplasma, lyme disease, ricektsia
Reactive: post-strep, post-GI
Rheumatic fever
IBD: UC, crohn’s
Vasculitis: HSP, kawasaki
Malignant: leukaemia, neuroblastoma
CTD: JIA, SLE, dermatomyositis, MCTD, PAN
CF
What are the types of JIA?
Systemic
Polyarticular
Pauciarticular
Features of systemic JIA
Large and small joints
M>F
ANA negative
No iridocyclitis
25% have severe arthririts
(Most commonly causes severe arthritis)
Features of polyarticular JIA
Large and small joints affected
F>M
RhF negative, ANA may be positive
No iridocyclitis
12% severe arthritis
Iridocyclitis and joint pain?
Probably pauciarticular JIA
Features of pauciarticular JIA
<5 joints, usualyl large
F>M
Rhf negative, ANA positive
At high risk of iridocyclitis
No severe arthritis usually
Def: reactive arthritis
Most common form of arthritis in childhood
A seronegative spondyloarthropathy that occurs following gastrointestinal and genitourinary infection
Reiter’s syndrome triad
See, pee, climb a tree
Non-infectious urethritis
Arthritis
Conjunctivitis
Causes of reactive arthritis in children
Adolescents
Children: enteric bacteria (Salmonella, Shigella, Campylobacter, Yersinia)
Adolescents: STIs (chlamydia, gonococcus)
Mycoplasma, Lyme disease
Signs/symptoms of reactive arthritis
1-4w post intiial infection
Transient (<6w) joint swelling, normally ankles or knees
Low grade feber, malaise, fatiuge
Urethritis: frequency, dysuria, urgency
Conjunctivitis: erythema, burning, tearing, photophobia
Examination in reactive arthritis?
Pain swelling, heat, redness and restricted movement in the joints:
Asymmetric oligoarthritis affecting the weight-bearing joints
Mx of Reiter’s
No curative treatment
Symptomatic
NSAIDs: indomethacin
Corticosteroids
Abx if chlamydia related
DMARDs only given if NSAIDs ineffective or contraindicated
Ix in Reiters
(CLINICAL DIAGNOSIS)
X-ray (normal)
FBC, ESR, CRP (acute-phase reactants are normal/mildly elevated)
ANA, Rheumatoid factor
Urogenital and stool cultures
Anthrocentesis with synovial fluid analysis
Def: osteomyelitis
Infection of the metaphysis of long bones
Most commonly distal femur and proximal tibia
URGENT DIAGNOSIS AND TREATMENT REQUIRED
Aetiology of osteomyelitis
Haematogenous spread or direct spread from an infected wound
Most common cause of osteomyelitis?
Staph aureus
Strep and HiB (if not immunised)
Most common cause of osteomyelitis?
in sickle cell
Staph and salmonella
Cxs of osteomyelitis
May spread to cause septic arthritis (if capsular attachment is below metaphysis, as in hip)
Bone necrosis, chronic infection with a discharging sinus, limb deformity and amyloidosis
Signs/symptoms of osteomyelitis
Acute febrile illness
Markedly painful, immobile limb (pseudoparesis)-> moving limb causes severe pain
Swelling and tenderness directly over infected site
Erythematous and woarm
May be a sterile effusion of an adjeacent joint
Insidious onset in infants
Ix in osteomyelitis
Blood cultures – usually positive
Acute phase reactants (WBC,CRP, ESR) – significantly elevated
X-ray – INITIALLY: normal
7-10 DAYS: subperiosteal new bone formation, bone rarefaction (periosteal elevation and radiolucent necrosis)
Ultrasound – periosteal elevation at presentation
MRI – subperiosteal pus and purulent debris in bone. Helps differentiate from soft tissue infection
Radionucleotide bone scan – identify site of infection
XR in osteomyelitis
Initially normal
7-10d: subperiosteal new bone formation, bone rarefaction (periosteal elevation and radiolucent necrosis)
Osteomyelitis
Mx of osteomyelitis
Abx for several weeks: IV until normal acute phase reactants, then oral
Aspiration/surgical decompression of subperiosteal space if atypical presentation
Surgical drainage if unresponsive to Abx
Limb immobilised initially but must later mobilise to prevent deformity
Def: septic arthritis
A serious infection of the joint space
Children <2 years old
Usually, monoarticular
URGENT DIAGNOSIS AND TREATMENT REQUIRED
Aetiology of septic arthritis
Commonly, haematogenous spread of the pathogen
Also, following a puncture wound or infected skin lesion
Adjoining osteomyelitis
Staphylococcus aureus
H.influenzae in unimmunised individuals
Symptoms and signs of septic arthritis
Acutely febrile child
Erythematous, warm, acutely tender joint
Pseudoparalysis (joint held still due to pain)
Effusion in peripheral joint
Septic arthritis of the hip difficult to diagnose due to subcutaneous fat. Initial presentation with limp or pain refererred to knee
Ix in septic arthritis
Acute phase reactants – Raised
Blood cultures
Ultrasound – identify effusions
X-ray – exclude trauma/other bony lesions. X-ray is NORMAL apart from joint space widening and soft tissue swelling
MRI – identify an adjacent osteomyelitis
Gold standard Ix in septic arthritis?
Joint space aspiration under USS with culture
Mx of septic arthritis
Abx: prolonged course, initially IV
Joint wash out or surigcal drainage if slow resolution or deep-seated joint
Immobilised intially but must be mobilised later to prevent deformity
Def: SCFE
Displacement of the epiphysis of the femoral head postero-inferiorly
PROMPT treatment required to prevent avascular necrosis
Adolescents at 10-15 years of age during the adolescent growth spurt
20% are bilateral
Associations of SCFE?
Obesity
Metabolic endocrine abnormalities: hypothyroidism, hypogonadism
Restricted abduction and internal rotation of the hip in an adolescent boy?
SCFE
Ix in SCFE
XR with a frog lateral view requested
Mx of SCFE
Surgical: pin fixation in situ with prophylactic fixation of contralateral hip
Limp or abnormal gait
Asymmetry of skinfolds around hip
Limited abduction of the hip
Shortening of the affected leg
DDH
Sensitivity and specificity of neonatal screening for DDH
Per 1000 live births, 6-10 detected, 1.3 true DDH
Ix in DDH
Neonatal screening: Barlow, Ortolani
USS (gold standard)
XR
Mx of DDH
Majority resolve spontaneously
Splint or harness to keep hip flexed and abducted for several months with progress monitored with USS and XR
Def: Perthes disease
Avascular necrosis of the capital femoral epiphysis of the femoral head due to interruption of the blood supply
Followed by revascularisation and reossification over 18-36 months
Boys
5-10 years of age
10-20% are bilateral
Cx of Perthes
Femoral head deformity and metaphyseal damage leading to subsequent degenerative arthritis in adult life
Signs/symptoms of Perthes disease
Insidious onset
Limp or hip/knee pain
Ix in Perthes
XR both hips with frog views
Bone scan
MRI
Mx of Perthes disease
If detected early and less than half of the femoral head affected:
Bed rest and traction
If late presentation or severe disease:
Femoral head needs to be covered by acetabulum to act as mould for re-ossifying epiphysis
Hip should be maintained in abduction with plaster or calipers
Femoral/pelvic osteotomy also an option
Def: Osgood-Schlatter disease
Osteochondritis of the patellar tendon insertion at the knee
Overuse syndrome that affects adolescent males who are physically active (particularly basketball or football) (repeated knee flexion and forced extension)
Cx of Osgood-Schlatter
Pain as an adult due to formation of a separate ossicle at the tibial tubercle
Signs/symptoms of Osgood-Schlatter
Knee pain after exercise
Localised tenderness
Swelling over the tibial tuberosity
Hamstring tightness
Dx of Osgood-Schlatter
Clinical
Mx of Osgood-Schlatter?
Most resolve with reduced activity
NSAIDs
PT: quadriceps muscle strengthening, hamstring stretches
Orthotics
Knee immobiliser splint
Surgical mx: excision of the affected part of the tibial tubercle
Def: Leukaemia
Uncontrolled proliferation of a lymphoid progenitor cell that is genetically altered. Early lymphoid precursors replace normal heamatopoeitic cells of the bone marrow
Acute lymphoblastic leukaemia may present with bone pain in children (sometimes primarily at night)
Signs/symyptoms of leukaemia
General: FLAWS
Bone marrow infiltration:
Anaemia
Neutropenia
Thrombocytopenia
Reticulo-endothelial infiltration:
Hepatosplenomegaly
Lymphadenopathy
Superior mediastinal obstruction
CNS
Testicular englargement
What is the commonest chronic inflammatory joint disease in children and adolescenets?
JIA
Def: JIA
Persistent joint swelling (>6 weeks) presenting before 16 years of age in the absence of infection or any other defined cause
95% have a disease that is clinically and immunogenetically distinct from rheumatoid arthritis in adults
7 subtypes
What are the Cxs of JIA
Chronic anterior uveitis
Flexion contractures of the joints
Growth failure
Osteoporosis
Amyloidiosis
Constitutional problems
Signs/symptoms of JIA
Gelling: stiffness after periods of rest
Morning stiffness and pain
Avoidance of previousl enjoyed activities, deteriorating behaviour/mood
Joint swelling and inflammation
In chronic arthritis: synoval thickening and swelling of the periarticular soft tissues
Long term: bone expansion from overgrowth:
Knee- leg lengthening or valgus deformity
Hands: discrepant finger lengths
Wrist: advancement of bone age
Mx of JIA
NSAIDs
Joint infections
Methotrexate
Systemic steroids
Biologics
MDT: specialist paeds rheum, specialist nurses, PT, opthalmology, dentristy, orthopaedics, social services OH
What are the subtypes of JIA
Oligoarthritis (persistent)
Oligoarthritis (extended)
Polyarthritis (RF negative)
Polyarthritis (RF positive)
Systemic arthritis
Psoriatic arthritis
Enthesitis-related arthritis
Undifferentiated arthritis
An 8 week old male infant is brought in by his mother to see the GP. She states that his right testis is undescended since birth. She was advised by a doctor when the child was born that she should take him to a doctor at 6 to 8 weeks of age if the problem persisted which is why she has brought him to the GP. On examination the GP confirms that there is a unilateral undescended testis on the right; the penis appears normal. What would be the next step in management?
Review at 3 months of age
Review at 6 months of age
Arrange genetic and hormonal testing
Arrange ultrasound scan
Refer to paediatric surgeon
If the testis is undescended by 3 months of age, a diagnosis of cryptorchidism can be made. At this point the child should be referred to a paediatric surgeon and seen before 6 months of age.
A 5-year-old boy is brought to his GP by his father complaining of abdominal pain for the last two weeks. He has not had any diarrhoea or vomiting and there has been no weight loss. He had a urinary tract infection when he was 4 years old. On abdominal examination the GP feels a mass on the right side of the abdomen. What would be the most important step in his management?
Abdominal ultrasound
Urgent referral for specialist assessment within two weeks
Urine dipstick
Urgent referral for specialist assessment within 48 hours
Abdominal x-ray
The key here is the abdominal mass which should trigger an immediate urgent referral to a paediatrician as this is usually how Wilms’ nephroblastoma presents. The previous UTI is of no significance here. NICE advocate urgent referral if any unexplained abdominal mass in present.
A 2-year-old boy with meningococcal septicaemia arrests on the ward. You are the first person to attend. After confirming cardiac arrest and following paediatric BLS protocol, what is the rate you should perform chest compressions at?
140-160 compressions per minute
160-180 compressions per minute
120-140 compressions per minute
100-120 compressions per minute
80-100 compressions per minute
The UK Resuscitation Council’s Paediatric Basic Life Support guideline states that chest compressions for children of all ages must be performed at a rate of 100-120 per minute. Compressions should depress the sternum by at least a third of the depth of the chest.
Lay persons and those not trained in paediatric resuscitation are advised to use the adult chest compression to rescue breaths ratio of 30:2, however those caring for children and trained to do so should use a ratio of 15:2.
A 10-year-old boy with atopic eczema is brought in to see his GP by his mother. She states that his eczema has flared up recently, with areas of itchy dry skin that are red and sometimes bleed when he scratches. This is confirmed by the GP on examination. In addition to emollients, the GP prescribes topical betamethasone valerate 0.025% to treat this moderately severe flare. For how long after the flare has been controlled should the GP advise the steroid cream be continued?
24 hours
48 hours
72 hours
1 week
2 weeks
For moderate flares of atopic eczema, NICE advise using emollients generously in conjunction with a moderately potent topical steroid cream such as betamethasone valerate 0.025% or clobetasone butyrate 0.05%. Treatment should continue for 48 hours after the flare has been controlled.
For delicate areas such as the face and flexures, a mildly potent steroid should be tried first (for example 1% hydrocortisone) and stronger steroids should only be used if this fails to control symptoms. A maximum of 5 days of topical steroids should be prescribed.
Mx of Impetigo
Topical fusidic acid is first line
Retapamulin is second line if fusidic acid has been ineffective if poorly tolerated
Mupirocin should be used if ?MRSA
In extensive disease:
Oral fluclox
or
Oral erythromycin if penallergic
A 5-year-old girl is brought in to see her GP by her mother complaining of increased frequency of passing urine and dysuria. This has never happened before and she is otherwise well. The GP asks for a urine sample to be given before starting antibiotics. Pending culture results, he decides to prescribe a 3-day course of antibiotics. Which antibiotic would be most appropriate in this case?
Trimethoprim
Amoxicillin
Cefalexin
Nitrofurantoin
Clarithromycin
NICE CKS advise using an oral antibiotic for 3 days pending culture results. Nitrofurantoin is not licensed for a 3-day course. Amoxicillin resistance is common so it should ideally only be used if the culture and sensitivities show that the organism is sensitive. Cephalosporins should be avoided if more narrow-spectrum antibiotics would work due to the increased risk of MRSA, Clostridium difficile and resistant UTIs.
For more on urinary tract infection in children see the NICE CKS guideline: http://cks.nice.org.uk/urinary-tract-infection-children#!topicsummary
Def: physiological jaundice
Jaundiace appearing >24h after birth, not lasting more than 2w in term and 3w in preterm infnat
Def: prolonged jaundice
Lasting >2w in term, 3w in preterm
Why are neonates more susceptible to jaundice?
Shortened RBC lifespan
Immature liver funciton (less glucuronyl transferase)
Higher rate of Hb catabolism
Innately polycythaemic
Epidemiology of neonatal jaundice
60% of term
80% of preterm
Risk factors for neonatal jaundice
Prematurity
Jaundice <24h (ABO, Rhesus)
UDP-glucuornyl transferase deficiency (Crigler-Najar, Gilbert’s)
Poor feeding
Infection
DM mother
Cephalohaematoma
Polycythaemia
Ethnicity
Cx of neonatal jaundice
Unconjugated bilirubin leading to kernicterus: bilirubin encephalopathy
When is there an increased risk of kernicterus
Serum bilirubin >340 micromol/l in term
Rapidly rising bilirubin of >8.5 micromol/l per hour
Clinical features of kernicterus
Symptoms of biliary atresia
Pale stool, Dark urine
What is the most important thing to determine in neonatal jaundice?
Where it is a conjugated or unconjugated bilirubinaemia
Causes of unconjugated bilirubinaemia
Haemolytic disease: ABO, Rhesus etc.
RBC abnormalities: HS, G6PD
Bilirubin conjugation defects: CN, Gilbert’s
Sepsis
Breast milk jaundice
Causes of conjuigated neonatal jaundice
Biliary atresia
Biliary obstruciton e.g. cholelithiasis, cholecystitis
CF
Hepatitis
Birth asphyxia
A1AT deficiency
Haemosiderosis
Ix in neonatal jaundice
Examination
Measure bilirubin: transcutatneous bilirubinomete at >35w gestation and >24h after birth
If this is high: serum
Always measure serum in babies who are jaundice <24h after birth and are <35w
FBC
Blood film
LFT
Bilirubin split
U&Es
CRP
Blood group
Coomb’s
G6PD levels
Septic screen
TFT
TORCH Titres
A1AT
Sweat chloride
USS
Hepatobiliary radionuclide scans
Liver biopsy
Mx of neonatal jaundice
Continue breast feeding
Treat underlying cause
Phototherapy to reduce conjugated bilirubin- baby needs eye protection, T monitoring, hydration
Check serum bilirubin after 4-6h and every 6-12h
Exchange transufion and IVIG if necessary
Refer to nomogram- have lower threshold for starting therapy in preterm
Causes of haemolytic disease of the newborn
ABO incompatibility: +ve Coomb’s, spherocytes
Rhesus incompatibility: maternal anti-Rh, positive Coomb’s, nucleated RBC
Indicators that HS may be the cause of neonatal jaundice
FHx
AD
Spherocytes
Splenomegaly
Positive red cell osmotic fragility test
Mx of HS
Folic acid
Splenectomy
Immunisation: pneumovax, Hib, MenC
Lifelong penicillin
Featurse of biliary atresia
Extrahepatic bile ducts obliterated by inflammation and subsequent fibrosis leading to obstruction and jaundice
Persistent jaudnice with pale stools and dark urine
Splenomegaly not normally a feature
FTT
Abnormal LFTs (GGT)
USS used to ddx from neonatal hepatitis
Mx of biliary atresia
Abx to prevent cholangitis
Ursodeoxycholic acid to encourage bile flow
Fat-soluble vitamin supplementation
Nutritional support
Surgery: portoenterostomy
Draw the causes of neonatal jaundice
Most common cause of nappy rash
Contact dermatitis
Risk factors for nappy rash
Infrequent nappy changing
Diarrhoea
Urea splitting organisms in faeaces
Symptoms of nappy rash
Convex surfaces of the buttocks, perineal region, lower abodmen and top of thighs
Sparing of flexures
Erythematous rash with scalded appearance
Severe forms association with erosions
Mx of nappy rash
Protective emollient
Severe: topical corticosteroids
No nappy
Nappy rash
Infant seborrhoeic dermatitis
Features of infantile seborrhoeic dermatitis
Eruption of unknown cause presenting around 2m
Increased risk of developing atopic eczema
Starts on scalp as an erythematous scaly eruption
Scales form a thick yellow adherent layer: cradle cap
Child not distrubed by it
Mx of infantile seborrhoeic dermatitis
Mild emollients
Scalp treated with ointment containing low concentration sulpher and salicylic acid
Widespread eruptions treated with mild topical corticosteroid +/- antibacterial/fungal as appropriate
Millia
Retention of kertaine and sebaceous material in the pilaceous follicles that resolves spontaneously
Erythema toxicum neonatorum
- Common, 2-3d
- White pinpoint papules at the centre of an erythematous base
- Fluid contains eosinophils.
- Concentrated on the trunk, come and go at different sites
Mongolian blue spot
- Blue/black macular discolouration at the base of spine and on the buttocks
- Afro-Caribbean/ Asian
- Fade slowly over 1st few years
- Ddx: NAI
Peripheral cyanosis of the hands and feet in newborn
Common in the first day
Epstein pearls
Small white pearls along the midline of the palate (resolve spontaenously)
Breast enlargement in newborns
Resolve spontaneously
May discharge milk
Umbilical hernia in newobrns
Common, especially in afro-carribean
No treatment indicated for the first 2-3y as they usually resolve spontaenously
Positional talipes
Feet often remain in their in utero position, unlike true talipes quinovarus, the foot can be fully dorsiflexed to touch the fron of the lower leg
2 important causes of jittery baby
Hypoglycaemia
Drug withdrawal/neonatal abstinence syndrome
When is hypoglycaemia in neonates more common?
In the first 24h in babies with:
IUGR
Preterm
Mothers with DM
Large-for-dates
Hypothermic
Polycythaemic
Ill
What is the optimum target for glucose levels in baby
>2.6mmol/l
Aetiology of hypogylcaemia in neonates
IUGR and preterm: poor glycogen stores
Infants of DM have high insulin levels due to pancreatic islet hyperplasia
Signs/symptoms of hypoglycaemia in neonate
Jitteriness
Irritability
Lethargy
Drowsiness
Seizures
Mx of hypoglycaemia
Prevent by early and frequent milk-feeding
Monitor blood glucose regulalry
IV dextrose infusion if 2 readings <2.6
or
1 <1.6
or
Symptomatic
Infusion given by central venous catheter
Glucaogn or hydrocortisone if there is difficulty administering infusion
Why should dextrose infusion for neonates be given via central venous catheter?
To avoid extravasation into tissues
Symptoms of neonatal abstience syndrome?
Jitteriness
Mottling
Diarrhoea
Fever
Hyperactive reflex
Hypertonia
Poor feeding
Tachypnoea
Seizures
Sweating
Tremors
Vomiting
Irritability
Ix in neonatal abstinence syndrome
Neonatal abstience syndrome scoring system
Toxicology screen of meconium
Urinalysis
Mx of neonatal abstinence syndrome
IV fluids
Higher-calorie formula
Morphine
Methadone
Initial addictive drug with a dose titrated down
Substances associated with neonatal abstinence syndrome
Amphetamines, barbiturates, benzodiazepines (diazepam, clonazepam), cocaine, opiates/narcotics (heroin, methadone, codeine)
Def: TTNB
Commonest cause of respiratory distress
Diagnosis of exclusion
Increased O2 requirement, RR, ABG doesn’t reflect CO2 retention
Mx of TTN
Usually settles within first day of life
Additional O2 may be required
Features of RDS
Deficiency of surfactant (secreted by Type 2 pneumocytes)
Leading to widespread alveolar collapse and inadequate gas exchange
Most common <28w
More severe in boys
Mothers with DM- term
Symptoms of RDS
Increased RR
Laboured breathing: chest wall recession, nasal flaring
Gruntin
Cyanosis
Mx of RDS
Steroids
Surfactant therapy
May require O2 supplemented with CPAP or artifical ventilation
Pneumothorax in newborn
Occurs in RDS as a result of overdistended alveoli, may track into intersittium- pulmonary interstitial emphysema
Also occurs in babies who are ventilated
Mx of pneumothorax in neonates
Use lowest pressure ventilation that provide adequate chest movement and satisfactory blood gases
Draw the causes of respiratory distress in term infants
Draw the classification of causes of a floppy infant
Def: congenital muscular dystrophy
Heterogeneous group of inherited disorders presenting at birth/early infancy with weakness, hypotonia or contractures
Slowly progressive proximal weakness with tendency to contracture when ability to walk is lost
Disease of muscle membranes or supporting proteins
Biopsy shows dystrophic features with reduction of one of the ECM proteins (usually laminin)
Def Congenital myopathy
Defined by static hisotchemical or ulstrastructural changes on muscle biopsy
Caused by genetic defects in contractile apparatus of muscle
Presents at birth with generalised hypotonia and muscle weakness
CK usually normal or mildly elevated
Def: myotonia
Delayed relaxation after sustained muscular contracition
Hypotonia, feeding problems and respiratory difficulties
Dominant inheritance caused by nucleotide triplet repeat expansion
Examine the mother for myotonia: slow release handshake or difficulty releasing a tightly clasped wrist
Transient neonatal myasthenia
Affects 10% of infants born to mothers with MG
Symptoms appear within 72h of birth and persist for several days to 3m
Respiratory and feeding difficulties
Generalised hypotonia
Responds well to AChE inhibitors
Mx of periorbital cellulitis
Refer all patients
Prompt IV abx- coamoxiclav
Features of periorbital cellulitis
Inflammation of the eyelids
Caused by bacterial infection (staph and strep, Hib in unimmunised), spread from sinusitis or dental abscess or as a consequence of local trauma
Cx is orbital ceullitis
Fever, erythema of eyelids, tenderness and warm
Cx of orbital cellulitis
Permanent vision loss
Abscess formation
Meningitis
Cavernous sinus thrombosis
Symptoms of orbital cellulitis
Proptosis
Painful or limited ocular movement
Reduced visual acuity
Mx of orbital cellulitis
CT head to assess posterior spread
LP
IV Abx: cef and fluclox
Monitor optic nerve funciton every 4 hours
Vision at birth
Face fixation and following
Vision at 6-8w
Follows bright toy
Optokinetic nystagmus
Vision at 6m
Reaches well for toys
Preferential looking
Vision at 2.5y
Can identify or match pictures of reducing size (Kay pictures)
Vision at 4y
Crowded LogMAR
Vision at 6y
LogMAR
Def: blind child
If education can only be provided by methods not involving sight
Paritally sighted: education can be provided using large print books
What are the commonest causes of blindness?
Optic atrophy
Congeital cataracts
Choroideoretinal degeneration
What are the right to left shunts?
Tetralogy of fallot
TGA
Eisenmenger
What are the Left to Right shunts?
ASD
VSD
PDA
What are the common mixing congenital heart defects?
AVSD
COmplex coongenital heart disease
What are the causes of outflow obstruction?
AS
PS
Adult-type coarctation of the aortaq
What is a secundum ASD?
Defect in the centre of the atrial septum involving the foramen ovale
Partial RBBB common
What are te symptoms of ASD?
None/recurrent chest infections
Arrythmias (later on in life)
Ejection systolic murmur at the upper left sternal edge
Fixed and widely split second heart sound?
ASD
Mx of Secundum ASD?
Catheter device closure at 2-5y
Mx of partial AVSD (primum)?
Surgical closure at 3 yeasr
What is partial AVSD?
Primum
Interatrial communication between the bottom end of the atrial septum and the AV valves and abnormal AV valves
(apical pansystolic murmur)
Def: VSD
Defect anywhere in hte ventricular septum, perimembranous or muscular
Small VSD=
Smaller than the aortic valve
Asymptomatic loud pansystolic murmur at LLSE, quiet P2
Normal examination and ECG
Small VSD
Mx of small VSD
Spontaneous closure
Heart failure
FTT after 1wk
Recurrent chest infections
Tachycardia
Tachypnoeic
Hepatomegaly
Active precordium
Soft pancystolic murmur with loud P2
Upright T wave
Large VSD
Mx large VSD
Rx for HF
surgery at 3-6/12
Def: PDA
Failure to close by 1/12
Continuous murmur beneath the left clavicle
Murmur continuing into diastole because the pressure in the pulmonary artery is lower than in the aorta throoughout the cardiac cycel
Rasied pulse pressure
Collapsing pulse
PDA
Tetralogy of Fallot
Large VSD
Overriding aorta
Subpulmonary stenosis causing RB outflow tract obstruction
RVH
Clubbing
Loud, harsh ESM at LSE
Tetralogy of Fallot
Symptoms of RVH
Severe cyanosis
Hypercyanotic spells
Squatting on exercies
Mx TOF
Initially medical
Sx at 6/12
Def: TGA
Aorta connected to RV and pulmonary connected to LV
Profound cyanosis espeically in D2 of life
HS2 often loud and single
Usually no murmur
TGA
Mx of TGA
Improve mixing- maintain PDA with prostaglandin infusion
Balloon atrial septostomy
Sx
Pathogenesis of eisenmenger
When L to R shunt/common mixing not treated early, pulmonary arteries become thickened
This leads to resistance to flow
Gradually becomes less symptomatic
Eventually at 10-15y the shunt reverses and they become blue
Progressive leading to death from RHF in adulthood
Features of complete AVSD
DS
Defect in the middle of the heart with a single 5 leaflet valve between the atria and the ventircles
Pulmonary HTN
Cyanosis at birth, HF at 2-3w
AS in newborn
Valves partly fused together
Asymptomatic murmur, small volume, slow rising pulse, carotid thrill
ESM at URSE radiating to neck and soft A2
Apical ejection click
AS
ESM at USLE, ejection click
PS
Downgoing T wave
LV strain and severe AS
ECG in PS
Upright T wave in V1= RVH
- Asymptomatic, systemic HTN in the R arm, ESM at USE, collaterals heard with continuous murmur at the back, radio-femoral delay
- CXR: rib notching – development of large collateral intercostal arteries
- 3 sign – visible notch in the descending aorta
Coarctation of the aorta
Downgoing T wave
LV strain and severe coarctation
+/- HTN
Coarctation
3 sign
Coarctation of the aorta
Sick with HF and shock in the neonatal period=
Outflow obstruction in the sick infant
PG ASAP and early surgical intervention
Causes of outflow obstruction in a sick infant
Aortic coarctation
Interruption of the aortic arch
Hypoplastic left heart syndrom
Features of aortic coarctation
Arterial duct tissue encricling the aorta at the point of insretion of hte duct so when the duct closes it causes constriction of the aorta
Acute ciruclatory collapse at 2/7 when duct closes
Absent femoral pulses
Severe metabolic acidosis
Features of interruption of the aortic arch
No connection between hte proximal aorta and the distal arterial duct
CO dependant on Right to left shunt via the duct
VSD present
Associated with Di George Syndrome
Causes of HF in neonate
Obstructed (duct-dependant) systemic circulation
Hypoplastic left heart
Crtical aortic valve stenosis
Severe coarctation
of the aorta
Interruption of the aortic arch
Causes of HF in infants
VSD
AVSD
Large PDA
Causes of HF in older children and adolescents
Eisenmenger
Rheumatic heart disease
Cardiomyopathy
Sign of RVH in children
Upright T wave in V1
Sign of left ventricular strain in children
Inverted T wave in V6
Pitfalls in ECGs of children
P wave morphology unhelpful
Partial RBBB common, also seen in ASD
Sinus arrythmia is a normal finding
Breathless/asymptomatic CHD
Left to right
Blue CHD
Right to left shunt
Breathless and blue CHD
Common mixing defect e.g. AVSD or complex congenital heart disease
PDA
Mx of preterm infants
Maintain environmental temperature
Non oral feeding
Mx of complications
Cx of preterm infants
Hypothermia
Metabolic: hypoglycaemia, hypocalcacemia, jaundice
Respirator: respiratory distress
Feeding problems
Intracranial haemorrhage
Infection
PDA
Retinopathy of prematurity
NEC
Px of preterm infnats
Excellent if >32w
Viable if 24w
<1.5kg are at risk of neurodevelopmental problems
What are the respiratory problems of <1.5kg infants
RDS
Pneumothorax
Apnoea and bradycardia and desturations
Bronchopulmonary dysplasia
What are the circulatrory problems in infants <1.5kg
Hypotension
PDA
What are the nutritional issues in infants <1.5kg
NG tube
Feeding intolerance- TPN
What are the metabolic problems in infants <1.5kg
Hypoglycaemia
Electrolyte distrubances
Osteopenia of prematuiry- from low phosphate
What are the brain injury considerations in infants <1.5kg
IVH
Ventricular dilatation
Periventricular leukomalacia
Mx of PDA
PG synthetase inhibitor
Ibuprofen
Indomethacin
Surgical ligation
Clinical examination pneumothorax in preterm
Transillumination of the chest
What causes apnoea, bradycardia and desaturation in preterm?
Common until 32w
Immaturity of central respiratory control
Stops breahting for 20-30s or when breathing continues against closed glottis
Starts again after physical stimulation
Mx of apnoea, bradycardia and desaturation
CPAP and caffiene
Fluid requirements of preterm infant
60-90ml/kg on first day
Titrate according to urine output and weight change until 150-180ml/kg/d
Nutritional considerations in preterm infants
High metabolic demands
Also Fe deficient as Fe stores are transferred in third trimester.
Mx of nutrition in preterm infants
Oro/NG tube with special feeds: phosphate, protein and calories need suppleneting
Breastmilk ASP
TPN can be used (PICC line)
Preterm brain injury & periventricular haemorrhage
- 25% of very low BW infanats
- In germinal matrix above caudate nucleus à fragile network of blood vessels
- Large intraventricular haemorrhage à disrupt drainage and reabsorption of CSF à build up of CSF pressure à dilatation of ventricles à hydrocephalus à cranial sutures can separate à tense anterior fontanelle. Mx: ventriculoperitoneal shunt, symptomatic relief with LP or ventricular tap to release CSF and reduce pressure
- Periventricular white matter brain injury (ischaemia/inflammation without haemorrhage) à cystic lesions around ventricles; if bilateral multiple cyst: periventricular leukomalacia (PVL)
- CAN OCCUR WITHOUT CLINICAL SIGNS
Features of NEC
- Bacterial invasion of the bowel wall
- More likely if NOT breastfed
- Stops tolerating feeds milk aspirated bile-stained vomiting distended abdo + blood-stained stools can become rapidly shocked and need ventilation can perforate
- X-ray: distended bowel loops, intralmural gas, gas in portal tract
- Mx: stop oral feeds, broad spectrum antibiotics to cover aerobes + anaerobes. Parenteral nutrition, ventilation and cirulatiory support considered. Surgery if perforation
LT effects: strictures and malabsorption
Retinopathy of Prematurity
- High levels of O2 from artificial ventilation affects developing vessels at the junction of the vascular and non-vascular retina
- Vascualr proliferation detachment, fibrosis, blindness
Mx: laser therapy
Def: Bronchopulmonary dysplasia
Infants who still need O2 post 36w
Features of BPD
- Defn: infants whostill need O2 at post-menstrual age of 36 wees
- From pressure and volume trauma of artificial ventilation, oxygen toxicity, infexn
- CXR: widespread opacification, cystic changes
Severe disease à risk of infexn (RSV, pertussis), pulmonary hypertension
Port wine stain along distribution of trigeminal nerve with intracranial vascular anomalies
Sturge-Weber
Port wine stain with severe lesions on limbs and bone hypertrophy
Klippel-Trenaunay syndrome
Klippel Trenaunay Syndrome
Port Wine Stain
Sturge Weber
Def: FTT
Suboptimal weight gain in infants and toddlers
Mild FTT
Fall across 2 centile lines
Severe FTT
Fall across 3 centile lines
Weight below 0.4th centile
Always trigger an evaluation
Important components of history in FTT
Detailed dietary hx: food diary:
Inadequate availabiltiy of food, psychosocial deprivaiton, neglect, food intolerance
Feeding: details of what happens at meal times
Childs general health i.e. chronic illness
Premature, IUGR, PMH
Growth of other family members (constitutional delay), autoimmune
Normal development
Problems at home?
Mx of faltering growth
MDT
Health visitor
GP
Dietician
Draw causes of FTT
Marasmus
Severe protein-energy malnutrition
Weight for height >3sd
Wasting no oedema
Kwashiorkor
Severe prtoein-energy malnutrition presenting with general oedema
Kwashiorkor
Marasmus
Complications of malnutrition
Immune disorder
Delayed wound healing
Worse outcome in illness
Permanent delay in intellectual development
Flaky paint skin rash with hyperkeratosis and desquamation
Distended abdomen and hepatomegaly
Angular stomatitis
Sparse and depigmented hair
Hypothermia
Bradycardia
Hypotension
Kwashiorkor
Ix in malnutrition
Food diary
Anthropometry
Lab: physiological adaptations to malnutrition
Mx of malnutrition
Intensive nutritional support
Parenteral or enteral (if GIT functioning)
Risk factors for DD
Aerobic gram positive rod with branches
Seen in relatively immunocompromised patients
Ping pong ball sensation of the skull
craniotabes Vit DD
Palpable costochondral junctions
rachitic rosary Vit DD
Harrison sulcus
horizontal depression corresponding to attachment of the softened ribs
Vit DD
Symptoms of hypocalacemia
Seizures
Tetany
Apnoea
Stridor
Mx of VitDD
Correction of predisposing RF, daily VitD
Healing occurs in 2-4weeks
Monitoring
Non-organic causes of FTT
- Feeding problems – insufficient breast milk or poor technique, incorrect prep of formula
- Insufficient/unsuitable food offered
- Irregular feeding times
- Infant difficult to feed/ disinterested
- Conflict over feeding, intolerance of normal feeding behaviour
- Problems with budgeting, shopping, cooking, famine
- Low SES
- Psychosocial Deprivation – poor maternal-infant interaction, maternal depression, poor maternal education
Neglect/child abuse- inc. factitious illness: deliberate underfeeding to generate FTT
Cx of non-organic FTT
Children with non-organic FTT continue to under-eat
A lasting deficit: remain underweight
Impairment of development only Short term
Mx of non-organic FTT
Health visitor: assess eating behaviour and provide support
Paediatric dietician to assess quantity and quality of food intake
SALT: specialist skills with feeding disorders
Clinical psychologist
Social services
Nursery
When is active refeeding used?
<6m old
Severe FTT: active refeeding
Risk factors for child abuse/neglect
Child: failure to meet parental expectations (disability), result of forced, coercive, commercial sex
Parent: MH problems, indifference, intolerance, over-anxiousness, EtOH, drug abuse
Family: step-parents, domestic vioelcne, multiple/closely spaced births, social isolation, young parents
Environment: poverty, unsavoury neighbourhood
Presentation of children with neglect
Ravenously hungry
Dirty
Wearing inadequate clothing
?neglect in babies
Apathetic
Delayed development
Non-demanding
?neglect in toddlers
Violent
Apathetic
Fearful
?neglect in school children
Wetting
Soiling
Relationship difficulties
Non-attendence
Anti-social behaviour
?neglect in adolescents?
Self-harm
Depression
Oppositional, aggressive and delinquent behaviour
What factors should be considered in child abuse/neglect
Childs age and stage of development
History given by child
Plausibility of the explanation
Background- repeated A&E attendance, lack of medical care
Delay in reporting
Inconsistent histories
Inappropriate reaction of parents – vague, evasive, unconcerned or excessively distressed/aggressive
Ix in child abuse
XR: full radiographic skeletal survey with oblique views of ribs
Mx of child abuse
Meticulous note taking
Any injuries/medical findings noted and photographed
Note interactions between parent and child
?safety of other siblings
Inform senior members of team, paediatric radiologists, paediatric surgeons.
Social services, police, teachers, lawyers
Symptoms of coeliac
Malabsorptive syndrome at 9-24months after induction of wheat containing foods
Mild, non-specific GI symptoms
Anaemia
FTT
Abdo distension
Buttock wasting
Abnormal stools
General irritability
Draw te clinical presentations of primary immune deficiency
What are the secondary causes of immunodeficiency?
HIV
Malignancy
Malnutrition
Immunosuppression
Wiskot Aldrich
X linked
Triad of:
T cell defect, thrombocytopenia and eczema
Duncan syndrome
Inability to make a normal resposne to EBV. Either succumb to initial infection or devlop lymphoma
X linked lymphoproliferative disesae
Ataxia telangectasis
Defect in DNA repair
increased risk of lymphoma
Cerebellar ataxia
T cell defects
Bruton agammaglobulinaemia
Abnormal RTK essential for B cell maturation
CVID
B cell deficiency
High risk of autoimmune disorders and malignancy
Later onset than Bruton
Delayed separation of umbilical cord and immunodeficiency
Leucocyte adhesion deficiency
Ix in FTT
FBC
U+Es, ABG, ca etc
LFTs
TFTs
Acute phase reactants
Ferritin
Immunoglobins
IgA TTG
Urine and Stool MC+S
Karyotype
CXR and sweat test
What are the dietary strategies for increasing energy intake
Three meals and two snacks
Increase number and variety of foods offered
Increase energy density of usual foods
Decrease fluid intake, particularly quash
What are the behavioural strategies for increasing energy intake
Regular meals with family
Praise when food eaten
Encourage child to eat but avoid conflict
What are hte components of a nutritional assessment
Anthropometry
Laboratory: albumin, specific minerals and vitamins
Food intake: diary and recall
Immunodeficiency: lymphocyte count, impaired cell-mediated immunity
Components of anhtropometry
Weight
Height
Mid-arm circumference
Skinfold thickness
What are the signs of constitutional growth falling
Steady grwoth below centiles or catch down for larger baby
Short parents
Normal physical examination
What are the signs of psychosocial growth faltering
Crossing down of ceniles
Eating difficulties, maternal depression
Normal physical examination. Abnormal maternal-infant interaction
Macule
Flat, circumscribed skin discolouration. Not raised or depressed
Flat naevus
Freckle
Patch
Macule more than 1 cm
Port wine stain, vitiligo, cafe´ au lait patch
Papule
Circumscribed, elevated non-vesicular, non-pustular,
less than 1 cm
Molluscum, lichen planus
Plaque
Broad elevated disc shape more than 1 cm
Nodule
Circumscribed, elevated, solid
Involves dermis
Neurofibroma
Nodular scabies
Wheal
Local, superficial, transient oedema
Urticaria
Vesicle
Elevated, fluid filled
<0.5cm
Herpes simplex virus, chicken pox
Bulla
Vesicle >0.5cm
Bullous pemphigoid Epidermolysis bullosa
Bullous impetigo
Pustule
Circumscribed lesion containing pus
Erythematous
Redness due to increased skin perfusion
blanching
Purpura
Red-purple
non blanching
due to extravasation of red cells
Petechiae
Purpura <2mm
Crust
Collection of debris, dried serum and blood
Impetigo
Erosion
Partial focal loss of epidermis; heals without scarring
Scale
Thick stratum , hyperproliferation
Tinea corporis
Ulcer
Full thickness, focal loss of epidermis and dermis;
heals with scarring
Desquamation
Peeling skin
Kawasaki
Scarlet fever
Causes of exanthematous rash
Measles
Rubella
Parvovirus B19
VZV
GAS
HSV6
Spread of measles
Coughing or sneezing or close contact with infected
Dx SSPE
Finding high levels of measles Ab in blood and CSF
Clinical course of measles
Prodromal phase- 2-4 days
- Infects respiratory epithelium of nasopharynx. Prodromal symptoms include cough, coryza, conjunctivitis with fever
- Infectious from prodromal phase to 4 days after rash appearing
Exanthematous phase- a maculopapular rash, 5-7days after initial infection
Koplik’s spots
DDx measles
Parvovirus B19- slapped cheek syndrome
Streptococcal infection similar appearance to measles, but sore throat most prominent symptom
Herpes virus type 6 (roseola infantum)
Dx of measles
IgM in saliva or blood
Measles school exclusion
Keep away from school for 4 days after developmen t of rash
Mx of measles
Parvovirus B19- slapped cheek syndrome
Streptococcal infection similar appearance to measles, but sore throat most prominent symptom
Herpes virus type 6 (roseola infantum)
Group A strep=
Strep pyogenes
Cx of GAS infeciton
Are rare but include
- Otitis media
- Throat abscess
- Sinusitis mastoiditis
- Meningitis and brain abscess
- Endocarditis, osteomyelitis
- Liver abscess
Autoimmune complications can occur later
- Acute rheumatic fever
- Streptococcal glomerulonephritis (2 weeks after)
haematuria, decreased UO, oedema
Incubation period (2-4 days)
Fever >38, abdominal pain, vomiting, sore throat
Exanthamatous phase- sand paper like diffuse rash on head and neck, desquamation after 1 week
Strawberry tongue
May have exudative tonsillitis, uvular oedema
Presence of red flat spots (macules) dotted over the hard and soft palate (Forchheimer spots).
Strep pyogenes (GAS)
Mx of GAS infection
Pencillin QDS for 10d prevents development of rheumatic fever but not glomerulonephritis
Paracetamol and ibuprofen
Exclude from school 1d after starting Abx
Return if symptoms worsen or not improved after 7d
Notify HPU
Cx of Rubella infection
- Arthritis or arthralgia
- Transient thrombocytopenia- more commonly in children
- Post-infectious enceph.
Rash- maculopapular rash starting behind ears typically then spreading to face and whole body
Suboccipital and postauricular lymphadenopathy common
60% of women may get arthralgia
Rubella
Mx of rubella
Advise resolve within 5 days, lymphad may last a week
Rest and fluids
Avoid pregnant ladies
Contact HPU
Immunocomp- are not at risk so don’t need to be admitted
Prodrome: fever, lethargy, headache, coryza
Exanthematous phase: bright red macules with slapped cheek appearance on face
Parvovirus B19
Def: exanthem
Rash that blooms towards the end of the incubation period
Prdrome: fever >41 lasting for 4 days
Exanthematous phase: rose-coloured maculopapular rash
Vomiting, diarrhoea, cervical lymphad
HSV6
Cx of VZV
Neonatses
Have an increased risk of disseminated or haemorrhagic varicella
In children:
Skin bacterial superinfection- eg necrotizing fasciitis- from scratching
Pregnancy- can get fetal varicella syndrome
Leads hypoplasis of limbs, eye defects, neurological abnormalities
1-2% risk
Prodrome: nausea, myalgia, headache, fever
Characterised by itchy vesicular rash- starts on head and trunk, then rest of body
Papulesàvesiclesàcrusting
VZV
Mx of VZV infection
Symptomatic treatment of fever and itching in a healthy child
Topical calamine lotion coats scars
Advice-
Cut nails to prevent scratching
Wear smooth cotton fabrics
Adequate fluid
If
develops high temp
tenderness around original chicken pox
then come back as can be a superinfection
IV acyclovir
Acyclovir in healthy children is not recommended
In immunocompromised children or in healthy children with varicella pneumonia or encephalitis
VSZ IG
Indicicated in high risk individuals
Given within 10 days, protection for at approx. 3 weeks
IM never IV
- Immunocompromised children and adults
- Newborns of mothers with varicella shortly before or after delivery
- Premature infants or <1 year
- Adults without evidence of immunity
- Pregnant women
Pregnant woman
Give acyclovir in primary care only if consented and advice from specialist
Refer to hospital if fever persists, or any chest or neurological symptoms- drowsiness, headache
If baby is born to an immune mother then fine as has antibodies
Immunocomp
Aciclovir VSZ-IG
Def: Acne
A chronic skin condition in which blockage or inflammation of the hair follicles and accompanying sebaceous glands (known as pilosebaceous units) occurs
Principally affects the face (99% of people), the back (60%), and the chest (15%), and usually first occurs around puberty
Can present as inflammatory or non-inflammatory lesions
Non-inflammatory:
- Comedomes- black head (open) and white heads (closed)
Inflammatory
- Superficial plaques and pustules, cysts
Features of non-inflammatory acne
Comedomes- black heads (open), white heads (closed
Features of inflammatory acne
Superficial plaques and pustules, cysts
What bacteria colonise comedones?
Propionibacterium acnes and to a lesser extent P. granulosum
Mild treatment of acne
Topical treatment: benzoyl peroxide
Topical abx or topical retinoids
Mx of moderate acne
Oral abx- tetracycline
Mx of severe acne
Oral retinoid- isotretinoin
Vernix Caseosa
- covers the skin at birth
- made up of water, protein and lipids
- protects the skin in utero from amniotic fluid
- shedding coincides with maturation of transepidermal layer
Vernix caseosa
Def: bullous impetigo
Uncommon blistering form of impetigo, superficial infection
Aetiology of bullous impetigo
Staph aureus producing exfoliating toxin
Toxin cleaves at desmoglein1 which join the keratinocytes to the superficial epidermis
Risk factors for bullous impetigo
Infants
Atopic eczema
Bullous impetigo
Mx of bullous impetigo
Cleansing and removal of crusts
Wet dressings
Systemic antibiotics- fluclox, erithromycin
Cx of bullous impetigo
Can lead to large areas of superficial skin loss- dehydration
If infection is systemic can lead to SSS (10%)- scalded skin syndrome!- treatment as if burns
Def: epidermolysis bullosa
Group of genetic conditions characterised by increased skin fragility Associated with blistering of the skin and mucous membranes
Epidermolysis bullosa
Aetiology of epidermolysis bullosa
Mutations result in either abnormal, absent or significantly reduced levels of a specific protein that is important in epidermis to dermis adhesion, and the result is shearing of the skin, or blistering
How is epidermolysis bullosa classified?
Based on the level of skin affected:
Simplex: within epidermis
Juncitonal: lamina lucida
Dystrophic: cleave in dermis
Kindler syndrome: mixed type
Symptoms of epidermolysis bullosa
Blisters on the skin
Occur spontaneously or following minor trauma
The newborn infant with EB may present with localized or widespread blistering at birth, or within the first few days of life,
Not possible to determine EB type by clinical examination.
EB should be one, among many other diagnostic considerations, when evaluating a newborn with blisters and/or erosions as can be fatal
Dx of epidermolysis bullosa
If EB is suspected, a skin biopsy should be taken from the edge of a fresh blister (1/2 blister and 1/2 uninvolved skin) that is <12 h old
IFM, antibodies conjugated with fluorochromes (rhodamine or fluorescein) are applied to skin sections and examined using ultraviolet light microscopy shows level affected
Mx of epidermolysis bullosa
Prevent skin trauma
Meticulous wound care
Good nutrition
Surveillance for extracutaenous complications
Collodion baby
Aetiology of collodion baby
X linked recessive
Cx of collodion baby
Respiratory distress (secondary to chest restriction)
Infections
fluid loss
electrolyte imbalances
temperature instability
Infants use up a lot of calories shedding and rebuilding skin so need extra feeding
Symptoms of collodion baby
Infants are born with a parchment like membrane, shiney and tight like cling film
Tightness can deform features and restrict movement
This membrane thensheds over days-weeks
Sometimes rarely there is normal skin underneath but majority have dry skin underneath the shed membrane- ichthyotic skin
Def: serborrhoeic dermatitsi
Eruption of unknown cause presenting in the first two months of life
Leiner’s disease
Severe generalised seborrhoeic dermatitis: child becomes unwell with diarrhoea, vomiting and anaemia
Cradle cap
Start of seborrhoeic dermatitis
Mx of infantile seborrhoeic dermatitis
Tends to resolve over the first 6-12m
Regular washing
Baby oil on scalp
Emollionts
IMidazole can be prescribed if these fail
Avoid steroids
When should food allergy be suspected?
Food allergy should be suspected in children with atopic eczema particularly if associated with gut dysmotility (colic, vomiting, altered bowel habit) or failure to thrive
Ithcy rash involving face, scalp and extensor surfaces
Nappy area usually spared
Dry skin
Lichenification
Eczema
How can the severity of eczema be assessed?
Visual analogue scales (0-10) capturing the child/parent/carer’s assessment of severity, itch and sleep loss over the previous three days and nights.
Patient-oriented Eczema Measure (POEM).
Children’s Dermatology Life Quality Index (CDLQI).
Infants’ Dermatitis Quality of Life Index (IDQOL).
Dermatitis Family Impact (DFI) Questionnaire.
Severity of eczema (physical):
Clear
Normal skin, no evidence of atopic eczema
Severity of eczema (physical):
Mild
Areas of dry skin
Infrequent itching
Severity of eczema (physical):
Moderate
Areas of dry skin, frequent itching, redness
Severity of eczema (physical):
Severe
Widespread areas of dry skin
Incessant itching
Redness
Severity of eczema (QoL):
None
No impact
Severity of eczema (QoL):
Mild
Little impact on everyday activites
Severity of eczema (QoL):
Moderate
Moderate impact on everyday activities and psychosocial wellbeing
Frequently disturbed sleep
Severity of eczema (QoL):
Severe
Severe limitation of everyday activties and psychoscoial functioning
Nightly loss of sleep
What are the potential trigger factors for eczema
irritants, for example soaps and detergents (including shampoos, bubble baths, shower gels and washing-up liquids)
skin infections
contact allergens
food allergens
inhalant allergens.
Treatment of mild atopic eczema
Emollients
Mild ptoency topical corticosteroids
Treatment of moderate atopic eczema
Emollients
Modreate potency topical corticosteroids
Topical calcineurin inhibitors
Bandages
Treatment of severe atopic eczema
Emollients
Potent topical corticosteroids
Topical calcineruin inhibitors
Bandages
Phototherapy
Systemic therapy
What are the approaches to treatment of eczema
Consider non-sedating antihistamines if itch
Step down approach: decrease potency of steroids until lowest possible potency
Start with milder steroids on the face
Do not prescribe very potent steroids without dermatological advice
Always ?infection
Symptoms of NAI
Look for concerning interactions between child and parent
Fractures in a non-mobile child
Basal skull fracture- retinal haemorrhages
Bruises-
- shape of a hand
- around wrist or hand –ligature marks
- on the buttocks
- shape of a bite
Burns- cigarette, glove or stocking burn consistent with forced immersion
Vague history
Ix in NAI
Full skeletal survey with oblique rib view
CT head and MRI
Coag screen
Opthalmologist to exclude retinal haemorrhages
Mx in NAI
Admit child
Consider siblings and alert social services
Senior help
Health visitors
GP
Police
Causes of erythema mutliforme
- EM tends to be due to infections such as HSV, Mycoplasma pneumonia commonly (other infections too) but can be due to drugs
SJ and TEN- tend to be due to a drug reaction
Symptoms of EM
- no prodrome
- a mild upper respiratory tract infection
- rash starts abruptly, usually within 3 days
- starts on the extremities, being symmetrical and spreading centrally
Mx of erythema multiforme
Most are self-limiting
Infection
Withdraw any durgs that are causing it
SCORTEN=
Used to assess Px of SJS and TEN
>3 admit to ICU
ABCD, treat as burns
Causes of erythema nodosum
Ass underlying conditions:‑
- Strep infection
- Primary tuberculosis
- IBD
- Drug reaction
Sarcoidosis
Symptoms of erythema nodosum
- Eruptive phase- fever, aching and arthralgia
- Painful rash usually appears within a couple of days
- Lesions begin as red, tender nodules with borders poorly defined and they are 2 to 6 cms in diameter
- Then turn bluish like a bruise
Lesions then become more like an abscess
Mx of erythema nodosum
Most cases are self-limiting
Symptomatic management
Cool compresses may help
NSAIDs
Conisder oral KI in more difficult cases
Sever itching occurs 2-6 weeks after infestation
Worse at night
Very itchy, burrows can be seen
Scabies
Sarcoptes scabiei
Distribution of scabies in older children
- Between fingers and toes
- Wrists (flexor part)
- Axillae
- Belt line
- Around penis nipples and buttocks
Distribution of scabies in young children
Palms
Soles
Trunks
Treatment of scabies
he whole family should be treated regardless of symptoms
Premithrin cream (5%)- applied to all areas below the neck and washe off after 8-12 hrs
For babaies face and scalp should be included
Benzyl benzoate- (25%) applied below neck and left on for 12 hra
Malathion lotion -(0.5% aqueous) also effective, kept on for 12hrs
Tinea capitis
Fungal infection of the scalp
Tines pedis
Fungal infection of the feet
Ix in ringworm
Woods’ light: shows bright greenish yellow fluorescence
Mx of ringworm
Topical antifungals
More severe= systemic antifungal for several weeks
Mx of DSH
Assess risk of depression
Early referral if evidence of depression or self harm ideation
Mx of mild depression
Watchful waiting (if child does not want intervention)
After 4w of watchful waiting:
?individual non-directive supportive therapy, CBT, GSH
do not use antidepressants
If CBT/GSH not working after 2-3m refer to CAMHS
Mx of moderate to severe depression
Refer to CAMHS
Offer psychological therapy as first line
If unresponsive after 4-6 sessions
Consider MDT review and alternative therapy
Consider fluoxetine catuiosly
Mx of resitant depression
?Alternative psychotherapy
If fluoxetine ineffetctive or not tolerated: sertarline or citalopram
If psychotic dpression: atypical antipsychotic
Mx of a child/young persion at high risk of suicid etc.
Consider inpatient treatment
ECT if very severe depression and life threatening symptoms
Def: hypersensitivity
objectively reproducible symptoms or signs following exposure to a defined stimulus at a dose tolerated by normal people
Def: allergy
hypersensitivity reaction mediated by immunological mechanisms – can be IgE or non-IgE
Def: atopy
personal/familial tendency to produce IgE antibodies to ordinary exposures. Strong association with asthma, AR, eczema, food allergy
Prevention of allergy
exclusive breastfeeding for 3-4m, use probiotics for eczema in infancy, altering allergen exposure, prebiotics (non-digestible oligosaccharides in breastmilk), nutritional supplmenets (omega3 fatty acids, vit D, antioxidants), medication (antihistamines, immunotherapy)
Non-IgE mediated allergic reaction
Delayed onset with varied clinical picture
Mx of allergy
Monitor growth
Symptomatic treatment with antihistamines and creams
Advice on allergen avoidence
Specific allergen immunotherapy e.g. SLIT
Def: food intolerance/hypersensitivity
objectively reproducible symptoms or signs following exposure to a defined stimulus at a dose tolerated by normal people
Def: food allergy
hypersensitivity reaction mediated by immunological mechanisms – can be IgE or non-IgE
Def: food aversion
refuses food for psychological/behavioural reasons (ed ASD kids struggle with food of different textures)
Features of secondary allergy
kid initially tolerant then develops allergy –due to cross-reactivity btwn proteins in frut/veg/nut amd those in the pollens they are allergic to. (oral allergy syndrome)
Temporary lactose intolerance (non-allergic food hypersensitvity)
previously well kid develops D & V, vomiting settles but watery stool continues for a while. As the stomach recovers, temporarily unable to digest lactose.
Associations between allergic rhinoconjuncitivits
Associations: eczema, asthma, sinusitis, adenoidal hyperthrophy
If left untreated can à asthma (reactive airway disease)
Coryza, conjunctivitis, cough-variant rhinitis due to post-nasal dirp, or impaired daytime behaviour/concentration from sleep disturbance due to chronic blocked nose. Mouth breathing, cough, halitosis.
Allergic rhinoconjunctivitis
nasal polyps, deviated/perforated nasal septum, mucosal swelling, depressed nasal bridge/widened bridge, horizontal nasal crease across dorsum
Allergic rhinoconjunctivits
Alergic salute/horizontal nasal crease
Allergic rhinoconjuncitivits
Mx of allergic rhinoconjuncitvitis?
Advice about allergen avoidance
1st line:
- oral antihistamine (certizidine or loratadine) or
- intranasal azelastine (H2 antagonist)
For control whilst awaiting /predominantly nasal symptoms:
- intranasal corticosteroid
If poorly controlled
- If on Oral antihistamine + intranasal corticosteroid
- If on intranasal corticosteroid, check technique, increase dose
If on highest dose of corticosteroid and symptoms persist:
- add intranasal ipratropium bormide
- Consider nasal decongestants
Avoid systemic therapy where possible.
Asthma response to treatment
Responidng:
Continue bronchodilators 1-4h PRN. Discharge when stable on 4h treatment
Continue oral predinosolone for up to 3d
Not responding:
Transfer to HDU and consider CXR, IV salbuatoml or aminophyllines (caution if already receiving theophyllines)
Consider IV MgSO4
At discharge:
Review medication and inhaler technique
Provide personalised asthma action plan
Delivery of asthma medication aged 0-4
MDI and valved spacer with face mask
Nebuliser for acute episodes
Delivery of asthma therapy 5-8y/o
MDI with vlaved spacer with mouthpiece
Dry powder inhaler for reliver for mild symptoms
Delivery of asthma therapy 8-12y/o
Consider dry powder inhalers for prevent are reliver
Delivery of asthma medication >12y/o
Consider breath activated MDI
Def: SJS
Immune-complex mediated hypersensitivity disorder ranging from mild skin and mucous membrane lesions to a severe, sometimes fatal systemic illness. Erythema multiforme was previously considered a milder form of SJS without mucosal involvement but is now accepted as consensus to be a separate disorder.
What drugs are implicated in SJS?
Allopurinol
Carbamazepine
Sulhponamides: trimethoprin, sulfasalazine
Antivirals
Anticonvulsants
NSAIDs
Aspirin
Sertraline
What infections are implicated in SJS
viral- HSV, EBV, coksackie, influenza, hep, variola; bacterial – group A strep, diphtheria, brucella, mycobacteria, typhoid, fungal, protozola- malaria, trichomonas
Immunisations associated with SJS
Measles
HepB
Non-specific URTI associated with fever, sore throat, chills, headace, arthralgia, malaise
Mucocutaneous lesions develop suddenly and in clsuters of outbreaks over 2-4 weeks, not usually pruritic
Severe oromucosal ulceration
Resp – cough + thick purulent sputum
Occular: painful red eye, purulent conjuncitivitis, photophobia,blepharitis(inflammation of eyelids)
Skin: lesions commonly at sole, palm, dorsum of hand, extensor surface. Rash may be confined to trunk. Begin as macules papules, vesicles, bullae, urticarial plaques or confluent erythema. Centre of lesions: vesicular, purpuric or necrotic. Target lesions are pathognomonic> Bullous lesions can rupture secondary infexn. Nikolsky sign positive( mechanical pressure to skin blistering)
Mucosa: erythema, oedema, sloughing, blistering, ulceration, necrosis
Genital: erosive vulvovaginitis or balanitis
SJS
How to manage child with conductive hearing loss?
Correct by placing grommets
How to manage child with sensorineural hearing loss
Ensure child has a means fo communications (e.g. sign language)
Maximise hearing through the use of a hearing age
Ensure appropriate schooling support provided
What are the risk factors for a child having hearing impairment?
Severe prematurity
Hx of meningitis, Hx of recurrent otitis media
Significantly delayed or unclear speech
Fhx of deafness
Parental suspicion of deafness
Child with CP
Child with cleft palate
Child with absent or derformed ears
Draw the causes of deafness in school children
What are the two techniques for screening of neonatal hearing?
Evoked otoacoustic emission
Automated auditory brainstem response
How does EOAE work
Click generated from earphones
Detects normal sound vibrations from outer hair cells in the cochlea
Disadvantages of EOAE
Misses auditory neuropathy as nerve/brainstem function not tested
High false-positive rate
Not a hearing test but a test of ochlear function
How does AABR work?
Auditory stimulus provided via earphones
Singal via ear and auditory nerve to brain
EEG waveforms detected and analysed for normality
Disadvantages of AABR
Affected by movement
Complex computerised equipment
Def: acute otitis media
Acute infection of the middle ear characterized middle ear inflammation
A continuum of disease: Acute otitis media to otitis media with effusion (recurrent acute infection)
Def: recurrent AOM
>3 episodes of AOM in 6m or >4 in a year with an absence of middle ear disease between episodes
Viral causes of otitis media
RSV
Rhinovirus
Bacterial causes of otitis media
Pneumococcus
H. influenza
Morazella catarrhalis
Why are children at greater risk of otitis media
Eustachian tubes are short and horizontal
Cx of acute otitis media
Recurrence
Perforation and otorrhoea- chronic supparative OM
Mastoiditis
Meningitis (bottom two rare nowadays)
haemorrhagic bullae (blisters) on the tympanic membrane
= Bullous myringitis (caused by M pneumoniae, spontaneously resolves)
Bullous myringitis
Caused by M pneumoniae
Normal tympanic membrane
Otitis media
Mx of otitis media
Analgesia: regular rather than PRN
Abx: delay prescribin
Ask them to use if symptoms persist after 4d or child getting worse
Rx in otitis media
5d amoxicllin
(clarithromycin if pen allergic)
When to refer a child with otitis media
<3m old with >38c
Child 3-6m old with >39
Recurrent OM causing effusion
Def: otitis media with effusion
- Characterised by collection of fluid within the middle ear without any inflammation signs
Can cause conductive hearing impairment
Otitis media with effusion
Aetiology of OM with effusion
Recurrent OM- persisten inflammatory reaction
Impaired Eustachian tube function causing poor aeration of middle ear
Adenoid infection or hypertrophy
Risk factors for OM with effusion
Down’s, cleft palate
CF
Primary ciliary dyskinesia
Allergic rhinitis
RF for AOM
What happens in children with DS and cleft palate in terms of ears?
Screened regularly for OME
Gold standard for Dx of OME
Otoscope
- Ear drum dull retracted
- Fluid level
- Loss of light reflex
- May not show evidence of inflammation
Confirmed my tympanometry and audiometry (>4 years)
Mx of OME
Watch and wait
Ask parents to slow speech and face child when talking
If symptoms persist refer to ENT, refer all DS and cleft palate to ENT urgently
Nonsurgical techniques:
Close observation
Hearing aids
Autoinflation
Surgical:
Grommets
Adenoidectomy
Def: OM chronic supparative
According to WHO
- a chronic inflammation of the middle ear and mastoid cavity, which presents with recurrent ear discharges (otorrhoea) through a tympanic perforation
More a condition for the adults…
Cx of chronic supparative OM
If left untreated, infection in chronic suppurative otitis media may spread extracranially causing
- facial paralysis
or intracranially causing
cerebral abscess
Ear discharge without pain
History of Acute OM
There may be hearing loss
Chronic supparative otitis media
Chronic supparative otitis media with perforation
Mx of chronic supparative OM
Refer those with signs of infection beyod ear urgently
Refer all ?
Clean ear and give Abx
Advise against getting ear wet e.g. in swimming pools
Def: otitis externa
Inflammation of the external ear canal
Can be localised- a folliculitis
Diffused- inflammation of skin and subdermis
Can be acute < 3 weeks
Or chornic > 3 months
(Malignant OE- spreads to boone causing bone infections
Aetiology of otitis externa
Bacterial
- pseudomona S. aureus
Fungal
Sebhorrhoeic dermatitis- ass with dandruff scaling
Contact dermatitis
Ear trauma
Excessive moisture- swimming in polluted water
Chemicals- hair dye, hair spray
Pain
Itch
Discharge
Red swelling in ear cancal- pus filled
Otitis externa
Mx of otitis externa
Remove aggravating factors
Topical acetic acids
More severe cases topical Abx with topical steroids
Def: sinusitis
Infection of paranasal sinuses (frontal sinusitis uncommon in first decade of life as they don’t develop until late childhood)
Rhino-sinusitis also used
Acute <12 weeks
Chronic> 12 weeks
Aetiology sinusitis
Commonly occurs after a viral URTI- secondary bacterial ifnection
S. pneumoniae
H influenza
M. catarrhalis
Chronic may result from LT alterations of parasinus structure
Nasal discharge
Blockage congestions
Pain may develop
May have fever
Chornic
- Pain may not be a feature
- Loss of smell
Exacerbation to acute sx with background chornic problems
Rhinits
What differentaites sinusitis from sinusoidal tumour
Blood stained discharge
Mx of sinusitis
Acute: self-limiting
Decongestants
Paracetamol, ibuprofen, irrigating with slaine may provide relief
Chronc:
Advise to control associated symptoms
3m of intranasl steroid
Irrigation
Refer if orbital or cranial complications
Def: rhinitis
an inflammatory disorder of the nose which occurs when the membranes lining the nose become sensitized to allergens
Sneezing
Nasal blockage, discharge
Itching
Bilateral eye swelling may be present
Rhinitis
Mx rhinitis
Non-sedating anti-histamines
Nasal topical corticosteroids
Nasal decognestion
Problems assocaited with hearing difficulty
LD
Neurological disorders
Visual deficits
What are the soft tissue injuries that can occur during birth
Cephalhaematoma
Caput succedaneum
Chignon
With what is cephaloheamatoma associated?
Ventouse delivery
A sebperiosteal haemorrhage that is soft on palpation
Cephalohaematoma
Cephalohaematoma characteristic
Doesn’t cross the suture lines
No discolouration
Clinical course of cephalohaematoma
May increase in size after birth and can take a few weeks to resolve
Associated with skull # which may be underneath
Cause of caput succedaneum
Mechanical injury from skull pushing against a narrowed cervix
Characteristics of caput succedaneum
Subcutaenous
Crosses the midline and sutures of the skull
Can present with discolouration and poorly defined edges
Clinical course of caput succedaneum
Presents at its largest size at birth and takes a few days to resolve
What is the ddx for cephalohaematom
Cranial meningocele: incomplete causes neural herniation
Characteristics of cranial meningocele
Pulsates and increased pressure on crying
Diffuse boggy swelling that can extend from orbits to occuput and spreads laterally towards ears
Subaponeurotic haemorrhage aka sublgeal haemorrhage
Subaponeurotic haemorrhage
Characteristics of subaponeurotic haemorrhage
Bleed between periosetum and aponeurosis
Develops over hours to days with insiduous growth
Traumatic birth history
Brusing over hte top
Risk factors for subaponeurotic haemorrahge
Ventouse
Birth trauma
Coagulopathy
Cx of subaponeurotic haemorrhage
Bloods loss may be severe leading to hypovolaemic shock
Infection
Mx of subaponeurotic haemorrhage
Vigilant observation
May need transufion if severe blood loss or flud bolus as scalp can hold up to 50% of foetal blood
Phototherapy if jaundice develops
Ix for coagulopathy
Def: congenital diaphragmatic hernia
Due to failure of the diaphragm to fuse properly during foetal development leading to the abdominal organs migrating up into the chest cavity
What are the 3 types of diaphragmatic hernia
Posterolateral Bochdalek’s hernia
Anterior Morgani’s hernia
Hiatus hernia
What is the most common type of hiatus hernia
Bochdalek’s hernia
Aetiology of diaphargamtic hernia
Genetic
Most idiopathic
3% risk of recurrence in future pregnancy
Cx of diapharagmatic hernia
Pulmoanry hypoplasia
Prenatal features of CDH
Usually diagnosed prenatally on routine USS
Mother presents with polyhdramnios
- Tachypnoae tachycardia
- Cyanosis
- Asymmetry of chest wall
- Displaces apex beat and heart sounds
- Infant with respiratory distress
- Unable to respond to resuscitation
?congenital diaphragmatic hernia with pulmonary hypoplasia
Ix in CDH
CXR
Mx of CDH
Large NG tube and suction to prevent bowel distension
Ventilation
Surgical repair once stabilised
Cause of inguinal hernia in children
Due to patent processus vaginalis through which the bowel herniates
Intermittent swelling in groin or scrotum on straining or crying
Irredicuble lump
Firm and tender lump
Unwell infant with irritability and vomiting
?Inguinal hernia
Mx of inguinal hernia
Analgesics and sustained gentle compression
If reduciton is impossible then emergency sx to avoid strangulation of bowel
Cx of inguinal hernia
Recurrence
Infarction of testes
Def: hyrodecele
Abnormal collection of fluid within the remnants of the processus vaginalis
How can hydrocele be classified?
Simple
Communicating
Simple hydrocele
Accumulation of fluid in tunica vaginalis
1-2% of males affected
Usually disppears within 1-2y
Communicating hydrocele
Persistence of processeus vaginalis allowing peritoneal fluid leakage
Normally congenital
Can occur in older male infants due to peritoneal dialysis or fluid overload
Cx of hydrocele
Recurrence
Secondary cryptorchidism due to scar formation
Asymptomatic scrotal swelling
Bluish dicolouration
Non tender
Transilluminates
May present after viral or GI illness in older boys
Hydrocele
Ix of hydrocele
Transillumination
Mx of hydorcele
Usually resolve
If persists beyond 18-24m- sx
What is the most common solid tumour in childhood
Brain malignancy
What are the different brain tumours that can present in childhood
Astrocytoma-> glioblastoma multiforme
Medullablastoma
Ependyoma
Brainstem glioma
Craniopharyngioma
- A developmental tumour
- Arising from the remenants of Rathke pouch(roof of developing mouth, gives rise to anterior pituitary)
- Not truly malignant but grows slowly in the suprasellar region
Craniopharyngioma
Cx of brain tumour
Intellectual decline
Poor growth
Endocrine problems
<2y/o
Bulging fontanelle
New onset seizures
Persistent vomiting
Increase in head size
Abnormal eye movement
Strabismus
?Brain tumour
>2y/o
Persistent headache causing EMW
Vomiting
Mood changes
Focal neurology
New onset seizures
Gait abnormlaity
(+spinal mets presenting with back pain, peripheral weakness)
?Brain tumour
Ix in ?brain tumour
FBC
MRI: child may need sedation
Biopsy
LP generally not performed
Mx of:
Increase in head size
Lack of visual following and abnormal eye movements
Urgent referral
Mx of brain tumour
Sx: aims to treat- tissue diagnosis
Some tumours may not be suitable for sx
CTx
RTx
MRI scans every 6m for first 2y then annually
Risk factors for HL in children
EBV
Previous mononucleosis
Hodgkin’s
HIV
Immunosuppression
Risk factors for NHL in childhood
EBV
HTLV-1
HHV8 in HIV
Hep C
Painless lymphadenopathy in the neck
Lymph nodes firm and large
long histroy (over months)
Systemic symptoms
- Pruritus
- Sweating
- Weight loss
- Fever
- Reed-Sternberg cells
HL
more rapid progression of symptoms
- SVC obstruction
- Breathlessness
- Abdominal distension
NHL
Gold standard Ix in lymphoma
Incisional biopsy
Ix in lymphoma
FBC: to exclude leukaemia or infectious mononculeosis
CXR
CT to stage
Indicators for urgent referral from primary care in ?lymphoma
Non-tender and firm LNs
larger than 2cm
Enlarging
Fever and weight loss with axillary and supraclavicular LNs involved
URGENT: hepatosplenomgaly, mediastinal or hilar mass on CXR
Mx of lymphoma
RTx
CTx: increases risk of leukaemia
ABVD
Def: neuroblastoma
An embryonal neoplasm arising from neural crest tissue in adrenal medulla dn SNS
Cx of neuroblastoma
Cord compression
HTN
Renal insufficiency
Abdominal mass +
Bone pain
Pallor
Fatigue
Unexplained fever
Generalised lymphadenopathy
Skin nodules in children younger than 6 months
Unexplained bruising
Horner’s syndrome due to thoracic lesions
Hypertension- due to pressure on renal artery
?Neuroblastoma
Ddx neuroblastoma
Wilm’s tumour
Lymphoma
Ix in neuroblastoma
CXR
FBC
ESR
Clotting studies
CT
MRI to look for spinal involvement
Gold standard dx of neuroblastoma
Catecholamine byproducts in urine: HVA and VMA
BIopsy of lesions
Mx of neuroblastoma
Localised without mets can be cured surgically
Low-risk patients are observed for spontaenous resolution
Immediate risk trated with sx, CTx and RTx
High risk patients are given multi-agent CTx, RTx, Sx followed by consolidation with high-dose ctx and peripheral blood stem cell rescue
What is the most common childhood malignancy
Wilm’s tumour
Large painless abdominal mass- often incidentally found in otherwise well child
Abdominal distension
Uncommon sx
- abdominal pain
- anorexia
- anaemia if haemorrhage into mass
- haematuria
HTN
Wilm’s tumour
What gene is assocaited with WIlm’s tumour
WT1
Ix in Wilm’s tumour
USS and or CT/MRI
Intrinsic renal mass distorting normal structure
Mx of WIlm’s tumour
Initial CTx followed by nephrectomy
RTx reserved for advanced disease
Def: rhabdomyosarcoma
Form of soft tissue sarcoma
Orginiates from primitive mesenchymal tissue
Cx of rhabdomyosarcoma
Mets to lung, liver, bone or bone marrow associated with poor prognosis
Head and neck most common site
- Proptosis
- Nasal obstruction
- Blood-stained nasal discharge
Genito-urinary
- Dysuria
- Urinary obstruction
- Scrotal mass
- Blood stained vaginal discharge
Any unexplained lump
Non tender
Progressively getting bigger
?Rhabdomyosacroma
Ix in rhabdomyosarcoma
FBC- anaemia
Scans for mets
Urinalysis
Biopsy: Dx, MyoD1 molecular study
Mx of rhabdomyosarcoma
Sx often not done as margins ill defined
Combination of CTx, Sx and RTx
F/U in bone tumours
Every 3m for 2 years
Features of retinoblastoma
Malignant tumour of retinal cells
Tumour develops in retinal cells which are dividing rapidly in eraly life
Normally occurs before the age of 5 as retina is fully developed by this age
Can be multifocal
Bilateral retinoblastoma
Hereditary
Unilateral retinoblastoma
20% are hereditary
What gene is implicated in retinoblastoma
Rb1
New squint
Change in visual acuity
FHx
White pupillary reflex
Retinoblastoma
Mx of retinoblastoma
CTx if bilateral to shirnk tumours followed by local laser treatment of retina
RTx for advanced disease or recurrence
Most are cured although many are visually impaired
Ix in retinoblastoma
MRI
Pupillary light reflex
Langherans cell histiocytosis
Disorder of dendirtic cells
Rare disorder of abnormal proliferation of histiocytes
Bone lesions
- at any age
- presents with pain, swelling and sometimes fracture
Diabetes insipidus
- hypothalamic infiltration
Can be systemic
- Seborrhoeic rash- skin
- Involvement of the gums, ears,
- Lungs (chest pain, spontaneous pneumothorax)
- liver and spleen (heptosplenomegaly)
Weight loss
Langherans cell histiocytosis
Ix in Langherans cell histiocytrosis
FBC
Clotting stuides
U&E
Biopsy
Multinucleated langherans cells, histiocytes and eosinophils on biopsy
Langherans cell histiocytosis
langherans cell histiocytosis
Lytic lesion with well-defined border
Advice for preventative measures in UTI
High fluid intake
Regular voiding/double micturition
Prevent constipation
Good perineal hygiene
Lactobacillus acidophilus
How can enuresis be classified
Daytime
Sceondary
Def: daytime enuressi
Lack of bladder control during the day in a child old enough to be continent
Aetiology of daytime enuresis
Lack of attention to bladder sensation
Detrusor instability
Neuropathic bladder
UTI
Constipation
Ectopic uretur: constant dribbling, child is always damp
Aetiology of secondary enuresis
Most commonly emotional upset
UTI
Polyuria from osmotic diuresis or a renal concentrating disorder
What are the signs of neuropathic bladder
Distended bladder
Abnormal perineal sensation
Abnormal leg reflexes and gait
What is suggestive of an ectopic uretur
Dry at night but wet on getting up
Ix in daytime enuresis
Urin MCS
USS
Urodynamic studies
XR spine
MRI
Ix in secondary enuresis
Urine: infection, glycosuria, proteinuria
Urine concentrating ability: early morning urine osmolality
USS of renal tract
Treatment of daytime enuresis
Treat underlying cause
If no neurological cause:
star charts, bladder training, pelvic flood exercises
Anticholinergic drugs e.g. oxybutin
Def: nephrotic syndorme
Heavy proteinuria
Hypoalbuminaemia
Oedema
Often accompanied by hyperlipidiaemia
How can nephrotic snydome in children be classified
Steroid-sensitive
Steroid resistant
Congenital nephrotic syndrome
Features of steroid-sensitivity nephrotic syndrome
85-90% of cases resolve with corticosteroid therapy
Common in asian boys, wealy associated with atopy
Often precipitated by respiratory infection
Features of congenital nephrotic syndrome
Rare, presents in first 3m
Recessive inheritance
Consanguinous
High mortality due to complications from hypoalbuminaemia
Cx of nephrotic syndrome
Hypovolaemia – Abdo pain, feels faint. Low urinary sodium and high haematocrit. Requires urgent treatment with i.v. albumin
Thrombosis – urinary losses of antithrombin, steroid therapy, etc
Infection – from capsulated bacteria, pneumococcus
Hypercholestrolaemia
Periorbital oedema particularly on waking (earliest sign)
Scrotal/vulval, leg and ankle oedema
MASSIVE proteinuria
Hypoalbuminaemia with corresponding hyperlipidaemia
Ascites
Breathlessness due to pleural effusions and abdominal distension
Nephrotic syndrome
Electron microscopy shows fusion of podocytes
Minimal change disease
Steroid-sensitive nephrotic syndrome
Ix in nephrotic syndrome
Urine dipstick
FBC, ESR, U&Es, Creatinine, Albumin
Complement levels (C3, C4)
ASOT or anti-DNAse B titres and throat swab
Urine MCS
Urinary sodium concentration
Hepatitis B and C screen
Malaria screen (if positive travel history)
Mx of steroid-sensitive nephrotic syndrome
Oral corticosteroids: 60mg/m^2/d prednisolone
Reduce to 40 on alternate weeks after 4w.
If unresponsive: renal biopsy
What are some steroid-sparing treatments for steroid-sensitive nephrotic syndrome and when might they be used
If steroid-dependant/frequent relapses
Cyclophosphamide
Tacrolims/ciclosporin
Levamisole
Mycophenolate mofetil
Treatment of steroid-resistant nephrotic syndrome
Refer to paediatric nephrologist
Diuretics
ACEI
Salt restriction
NSAIDs
Treatment of congenital nephrotic syndrome
If albuminuria is very severe: unilateral nephrectomy
Dialysis until the child is large enough for renal transplant
Causes of nephritic syndrome
- Post infectious (including streptococcus)
- Vasculitis (Henoch-Schönlein purpura or, rarely, SLE, Wegener’s granulomatosis, polyarteritis nodosa, microscopic polyarteritis)
- IgA nephropathy and mesangiocapillary glomerulonephritis
- Anti-glomerular basement membrane disease (Goodpasture’s Disease) – very rare
- Post infectious (including streptococcus)
- Vasculitis (Henoch-Schönlein purpura or, rarely, SLE, Wegener’s granulomatosis, polyarteritis nodosa, microscopic polyarteritis)
- IgA nephropathy and mesangiocapillary glomerulonephritis
- Anti-glomerular basement membrane disease (Goodpasture’s Disease) – very rare
Clinical features
- Reduced urine output and volume overload
- Oedema (normally periorbital)
- Hypertension which may cause seizures
- Haematuria and red cell casts , proteinuria
Nephritic syndrome
Ix in nephritic syndrome
- Urine microscopy (with phase contrast) and
- culture
- Protein and calcium excretion
- Kidney and urinary tract ultrasound
- Plasma urea, electrolytes, creatinine, calcium,
- phosphate, albumin
- Full blood count, platelets, clotting screen,
- sickle cell screen.
If ?glomerular haematuria
- ESR, complement levels and anti-DNA
- antibodies
- Throat swab and antistreptolysin O/anti-DNAse B titres
- Hepatitis B and C screen
- Renal biopsy if indicated
- Test mother’s urine for blood (if Alport syndrome
- suspected)
- Hearing test (if Alport syndrome suspected)
Mx of nephritic syndrome
Fluid and electrolye balance
Diurteics
Monitor for rapid deterioriation in renal function
Follows a streptococcal sore throat or skin infection
Diagnosed by evidence of recent infection (culture of organism, raised ASO/anti-DNAse B titres) and low complement C3 that return to normal after 3-4 weeks
Post-streptococcal and postinfectious nephritis
- Characteristic skin rash (buttocks, extensor surfaces of arms and legs, ankles). Initially urticarial becomes maculopapular. Spares trunk. Cornerstone of diagnosis.
- Arthalgia
- Periarticular oedema
- Colicky abdominal pain
- Glomerulonephritis
Occurs in boys between the ages of 3-10 years. Peaks during winter and often preceded by URTI. Proposed that IgA and IgG complex and deposit in affected organs, activating complement
HSP
Episodes of macroscopic haematuria in association with upper respiratory tract infections. Histologically similar to Henoch-Schönlein.
IgA nephropathy
X-linked recessive disorder that progresses to end-stage renal failure by early adult life in males and is associated with nerve deafness and ocular defects. The mother may have haematuria.
Alport syndrome
Characteristic symptoms are fever, malaise, weight loss, skin rash and arthropathy with prominent involvement of the respiratory tract
Wegner’s
Characteristic symptoms are fever, malaise, weight loss, skin rash and arthropathy with Renal arteriography demonstrating aneurysms
PAN
Treatment of vasculitides
Steroids
PLEX
IV cyclophosphamide
Predisposing causes of renal stones in childhood
à UTI
à Structural abnormalities of the urinary tract
à Metabolic abnormalities most commonly idiopathic hypercalciuria
What most commonly caues phosphate stones
Proteus
Nephrocalcinosis occurs with
With hypercalcuria
Hyperoxaluria
Distal renal tubular acidosis
DMSA
Static scan of renal cortex
Detects functional defects but very sensitive so need to wait 2m after UTI to avoid dx false scars
Draw protocol for antenatally diagnosed UT anomalies
Nitrate
Positive result likely to indicated a UTI
NB some children with a UTI are nitrate negative
LE
May be present in children with UTI but may also be negative
Present in children with febrile illness without UTI
Positive in balantitis and vulvovaginitis
LE + N +ve
Regard as UTI
LE -ve
Nitrate +ve
Start abx treatment
Dx depends on urine culture
LE +ve
Nitrate -ve
Only start abx if clinical evidence of UTI
Dx depends on culture
LE + N -ve
UTI unlikely
Repeat or send urine for culture
Causes of proteinuria
Orthostatic proteinuria
Glomerular abnormalities:
Minimal change
GN
Abnromal glomerular BM
Increased GFR pressure
Reduced renal mass
HTN
Tubular proteinuria
What are the causes of steroid-resistant nehprotic syndorme
Focal segmental glomerulosclerosis
Mesngiocapillary GN
Membarnous nephropathy
Most common cause of steroid-resistnat nephrotic syndrome
Focal segmental glomerulosclerosis
Px of focal segmental glomerulosclerosis
30% progress to ESRF
20% respond to steroid sparing agents
Recurrence post-transplant common
Nephrotic syndrome:
More common in older children
Haematuria and low complement level present
Mesnagiocapillary glomerulonephritis (membranoproliferaive)
Nephrotic syndrome:
Associated with Hep B
May preced SLE
Membranous nephropathy
How can the causes of haematuria be classified?
Non-glomerular
Glomerular
Draw the causes of haematuria
How can the causes of HTN be classified?
Rneal
Coarctation
Catecholamine excess
Endocrine
Essential HTN
Draw the causes of HTN
How can the causes of palpable kidneys be classified
Unilateral
Bilateral
Draw the causes of palpable kidneys
Draw the causes of acute renal failure
What are the metabolic abnormlities seen in acute renal failure
Metabolic acidosis
Hyperphosphataemia
Hyperkalaemia
How to correct metabolic acidosis in acute renal failure
Sodium bicarb
How to correct hyperphosphattaemia in acute renal failure
Ca carbonate
Dietary restriction
How to correct hyperkalaemia in acute renal failure
If ECG changes: calcium gluconate
Salbutamol (nebulised or IV)
Calcium exchange resin
Glucose and insulin
Dietary restriction
DIalysis
What is the most common cause of chronic renal failure
Structural malformations
What are the common causes of chronic renal failure
Structural malformation
GN
Hereditary nephropathies
Systemic disease
Miscellaneous/unknown
Draw the causes of diurnal enuresis
What are the causes of frequent and excessive urination
UTI
Psychogenic
DM
DI
Chronic renal failure
Causes of haematuria
UTI
Trauma
Acute GN
Stones and hypercacliruia
Congenital anomalies
Tumour
Coagulopathy
Exercise
Drugs
Mx of nephrotic syndrome
Hospitalise, monitor weight and urinary protein loss
Moderate fluid and salt intake
Steroids to induce remission
Low dose steroids for 3-6m
Prophylactic penicllin
Cyclophosphamide if steroids ineffective
Barrter syndrome
Bartter syndrome is a rare inherited defect in the thick ascending limb of the loop of Henle. It is characterized by low potassium levels (hypokalemia),[1] increased blood pH (alkalosis), and normal to low blood pressure. There are two types of Bartter syndrome: neonatal and classic. A closely associated disorder, Gitelman syndrome, is milder than both subtypes of Bartter syndrome.
underdeveloped lungs, which can cause severe breathing difficulties soon after birth
high blood pressure (hypertension)
excessive peeing and thirst
problems with blood flow through the liver, which can lead to serious internal bleeding
a progressive loss of kidney function, known as chronic kidney disease (CKD)
ARPKD
Why is ADPKD called adult PKD?
Although children are born with the condition, ADPKD does not usually cause any noticeable problems until the cysts grow large enough to affect the kidneys’ functions.
In most cases, this doesn’t occur until 30-60 years of age.
Def: overweight
91st BMI centile
Def: obesity
98th BMI centile
When to start to use adult parameters for BMI assessment
>12y/o
What are the BMI centiles for population monitoring
Overweight: 85th BMI centile
95th BMI centile= obese
Def: Pickwickian syndrome
besity hypoventilation syndrome (also known as Pickwickian syndrome) is a condition in which severely overweight people fail to breathe rapidly enough or deeply enough, resulting in low blood oxygen levels and high blood carbon dioxide (CO2) levels. Many people with this condition also frequently stop breathing altogether for short periods of time during sleep (obstructive sleep apnea), resulting in many partial awakenings during the night, which leads to continual sleepiness during the day.[1] The disease puts strain on the heart, which eventually may lead to the symptoms of heart failure, such as leg swelling and various other related symptoms. The most effective treatment is weight loss, but it is often possible to relieve the symptoms by nocturnal ventilation with positive airway pressure (CPAP) or related methods.
Mx of obese child
Exclude organic pathology
Health eating and encourage regular meals, discourage snacking
Increase physical activity
Management doesn’t involve weight loss, rather weight maintenance so children “grow” into their weight
Further treatment is reserved for those >40BMI
Drug treatment is with orlistat or metformin (especially if insulin resistance is apparent)
Ix in obese child
BP
Blood glucose, insulin levels
Cholesterol
TGs
LFTs
BMI
TFT and other endocrine function tests
Cx of obesity
Endocrine – T2DM, metabolic syndrome, insulin resistance
CVS – hypertension
Resp – obesity hypoventilation syndrome (aka Pickwickian syndrome), obstructive sleep apnoea, snoring, daytime somnolence, asthma exacerbation
GI – gall bladder disease
Neuro – idiopathic intracranial hypertension
Gynaecological – early menarche, Polycystic ovarian syndrome
Orthopaedic – slipped upper femoral epiphysis, bow legs (varus), foot problems
Malignancies – Colon CA, breast CA
Psychological – self-esteem, depression, more likely to experience downward social mobility
What is the most common cause of obesity
Nutritional
What are the rare causes of obesity in childhood
Hypothyroidism
Cushing’s sydnrome
Various genetic syndromes
Def: delayed pubertify
Absence of pubertal development by age 14 in girls and 15 in boys
What are the causes of delayed puberty
Congenital delay of growth and puberty
Hypogonadotrophic hypognoadism (low gonadotrophin)
Hypergonadotrophic hypogonadism (high GTH)
Def: constitutional delay of growth and puberty
Variation of normal timing of puberty
Delayed puberty that is familial often having occured in parent of the same gender
Ix in CDGP
Good Hx including FHx – look for patterns of female menarche ages, evidence of gonadal dysplasia syndromes in the child. Check on social/educational aspects - ?neglect.
O/E: height, weight & plot. Pubertal staging inc testicular volume . Look for dysmorphic features, general examination including fundoscopy and visual fields, look for signs of chronic disease. Calculate mid-parental heightPlotting present and previous weights/heights on growth charts
Bloods for chronic disease: FBC, ferritin, renal function, U/Es, Coeliac screening (serum TTG), urine dip for blood/proteins
Bloods for disorders of gonadal axis: karyotyping, basal FSH/LH/E2/T4, pelvic USS for girls, bone age, GnRH test, PRL, GH, MRI/CT for pituitary if indicated
Mx of CDGP
Medication not normally needed
Androgens and oestrogens can be used to induce puberty
Def: congenital hypothyroidism
Lack of thyroid hormones present from birth – if not detected and treated early can lead to irreversible neurological damage and poor growth.
*Only small amount of thyroxine transfer from M to F (but severe maternal hypothyroid can cause brain damage), fetal thyroid produces inactive T3. After birth surge in TSH à rise in T4 and T3 à fall to adult levels within a week
Causes of congenital hypothyroidism
- Maldescent or athyrosis, thyroid aplasia, hypoplasia, ectopic thyroid tissue
- Dyshormonegenosis: inborn error of synthesis, TSH unresponsiveness, defects in thyroglobulin
- Hypothalamic or pituitary dysfunction: usually panhypopituitary (hypoglycaemia, undescended testes, micropenis noticeable first); hypothalamic tumours/ischaemic mg/congential defects
Iodine deficiency
Symptoms: failure to thrive, feeding problems, somnolence, lethargy, constipation, delayed development
Signs: Pale/cold/mottled skin, coarse facies, large fontanelle, large tongue, hoarse cry, goitre, umbilical hernia, myxoedema, oedema of genitalia and extremities, nasal obstruction, prolonged jaundice, hypotonia, cardiomegaly, bradycardia, pericardial effusion, failure of fusion of distal femoral epiphyses, refractory anemia
Congenital hypothyroidsim
Mx of congential hypothyroidism
Start thyroxine at 203weeks of age, OD L-thyroxine titrated to TFTs, growth. Repplacement is lifelong, minotr: TFTs, cross-sectional reference growth charts, developmental milestones, mental development
- Rapidly enlarging thyroid gland – SOB, dysphagia, goitre will remain unchanged for decades
- Occasionally mild thyrotoxicosis at the start of the disease
- Short stature, growth failure, delayed puberty
- Cold intolerance, cold peripheries
- Dry skin; thin dry hair; pale puffy eyes with loss of eyebrows
- Slow-relaxing reflexes
- Constipation
- Bradycardia
- Obesity
- Associations: slipped upper femoral epiphysis, deterioration in schoolwork, leranign difficulties; other autoimmune conditions (alopecia areata, hypogonadism etc)
If extreme, can lead to myxoedema coma, encephalopathy, hyperlipidaemia
Hashimoto’s autoimmune thyroiditis
Ix in CNS tumours
- Endocrine studies
- *Macroprolactinaemia (prolactin of high molecular mass, mostly complexes of monomeric prolactin with immunoglobulins) - suspect this if there is a high prolactin level with no symptoms (eg normal menstrual cycles). The serum sample should be treated with polyethylene glycerol (PEG) to precipitate out the macroprolactin
- Imaging- plain Xray will show calcified cyst in/above pituitary fossa (common in children); CT, MRI
- Pituitary stimulation test to assess need for pituitary hormone replcament
- Visual fields test
Consider psychiatric assessment if appropriate
Treatment of CNS tumours
- Surgical resection- trans-sphenoidal for lesions within sella turcica and ACTH-secreting adenomas
- Hormone-secreting pituitary tumours can be treated with meds: bromocriptine/cabergoline for prolactin-secreting adenomas, somatostatin analogues for Gh secreting adenomas
- Intracystic chemotherapy or radiotherapy (brachotherapy) if sx not possible
Panhypopituitarism treated with appropriate replacements
Def:CAH
Disorder of cortisol biosynthesis – deficiency of an enzyme in the steroid biosynthesis pathways (>90% are of 21-hydroxylase) that causes more precursors to be converted to adrenal androgens. Characterised by cortisol deficiency, with or without aldosterone deficiency and androgen excess. (because autosomal recessive, Mendelian pattern of inheritance and therefore spectrum of phenotypes)
Aetiology of CAH
21-hydroxylase gene is on 6p21 within HLA histocompatibility complex
In foetus, cortisol deficiency à ACTH production à overproduction of adrenal androgens. Deficiency of mineralocorticoids causes salt-losing crisis
What are the features of the calssic form of CAH
severe form, subclassified as salt-losing or non-salt losing(simpelr virilising)
- Baby girls: virilisation or external genitalia, clitoris hypertrophy, variable fusion of labia, common urogenital sinus in palce of a separate urtethra and vagina. Prader staging 1-5 to classify severity of virilisation. But uterus, ovaries normal and intact.
- Baby boys: enlarged penis, scrotum pigmented. Non-salt losing from – early virilisation
- Boys with salt-losing form: present at day 7-14 with vomiting, floppy, weight loss, circulatory loss, hyponatremia, hyperkalemia, shock, acidosis
Both, non-salt losing: increase muscle build, precocious puberty
CAH
Early puberty, young women – infertility, hirsutism, oligo/amenorrhoea, PCOS, acne, psychosexual issues from xs testosterone, increased muscle build; males early puberty
Nonclassic CAH
Low Na, high K, metabolic acidosis, hypoglycaemia
Salt-losing CAH
Dx of CAH
High levels
levels of 17α-hydroxyprogesterone (precursor) in blood – 21 hydroxylase deficiency, send after 48h because high in all babies at birth
Corticotrophin stimulation test used to assess borderline cases and the gold std for Dx in onoclassic form
Treatment of adrenal crisis
Saline
Dextrose
IV hydrocortisone
Treatment of classic CAH
- glucocorticoids lifelong to suppress ACTH. Fludrocortisone to replace mineralocrticoids. Infants will need NaCl supplementation before weaning. When under phjsyical stress (febrile illness, trauma, injury etc), will need increased dose of hydrocortisone, IV hydration, glucose monitoring (MEDICALERT BRACELET). Regular monitoring of growth, skeletal maturity, plasma androgens, 17s-hydroxyprogestoerone to titrate between xs ACTH and comrpomisd growth.
Treatment of CAH: females with virilisation
sometimes need corrective surgery before age 1, surgery to reduce clitoris and vaginoplasty before intercourse. Often experience psychosexual problems
Mx of mothers at risk of carrying a child with CAH
maternal dexamethasone after prenatal diagnosis to reduce virilisation, balance with risk of IUGR
WHat is significant about precocious puberty in boys
More likely to be pathological rather than physiological
Draw the causes of precocious puberty
Draw the causes of delayed puberty
Def: premature puberty
Development of secondary sexual characteristics before age 8 in girls and 9 in boys
When accompanied by growth spurt= prcocious puberty
Draw the classification of renal tract abnormalities
How can precocious puberty be classified?
Gonadotrophin dependant
Gonadotrophin independant
Precocious puberty in females
Females- normally idiopathic or familial. Organic causes rare and associate with dissonance (change in sequence) – suggesting XS androgens, rapid onset, nueorlogical symptoms and signs (eg neurofibromatosis)
Precocious puberty in males
normally an organic cause, intracranial tumours especially
Gonadotrophin dependent precocious puberty
Idiopathic/familial
CNS abnormalities
Hypothyroid
Gonadotrophin independant precocious puberty
Adrenal: tumour CAH
Ovarian tumour: granulosa cell
Testicular tumour: leydig
Exogenous steroids
Ix in precocious puberty
Full hx including family hx
Examine testes in males
Tanner staging of puberty
Levels of sex steroid: pubertal levels found in gonadotrophin independent puberty
LH and FSH to determine aetiology
TFT
Adrenal precursors if ?CAH
hCG if ?hCG secreting tumours
Urinary 17-ketosteroids- adrenal andorgens
Cranial MRI ?intracranial tumour
Bilateral testes enalrgement in precocious puberty
Gonadotrophin release: intracranial lesion
Small testes in precocious puberty
Adrenal andorgen production
Unilateral testicle enlargement in precocious puberty
Tumour
Gold std dx of precocious puberty
Pelvic USS
Bone XR bone aging
Leuprolide acetate stimulation testing: accurately predict pubertal progression
If bone age is within 1 year of chronological age
Puberty has not started/only just started
If >2y advanced, puberty has been present for one year/is progressing rapidly
Mx of gonadotrophin dependant precocious puberty
GnRH analogues
Mx of gonadotrophin-independent precocious puberty
inhibitors or androgen release(ketoconazole)/action (cyproteone acetate); oestrogen action(tamoxifen in mcune-albright, medroxyprogesterone) or production
Mc-Cune Albright Syndrome
consists of at least two features of the triad of:[1]
Polyostotic fibrous dysplasia.
Café-au-lait skin pigmentation.
Autonomous endocrine hyperfunction (including precocious puberty, thyrotoxicosis, pituitary gigantism and Cushing’s syndrome).
Def: premature pubarche
Pubic hair develops <8 in girls,<9 in boys but with no other signs of sexual development
Aetiology of premature pubarche
Premature adrenarche – adrenal androgens (along with other symptoms)
Exogenous androgens – contact with topical preparations
PCOS in girls?
Ix in premature pubarche
Pelvic USS
Bone age
Urianry 17-ketosteroids to exclude adrenal andorgens/tumour
?late onset CAH
Def: short stature
Height below the 2nd centiel i.e. 2SD below the mean
Ix in short stature
Hx: include prenatal/perinatal Hx, maternal health and habits during pregnancy, check Red Book. Gnereal nutrition, feeding problems, special diets etc. Chronic disease and medication ( WATCH OUT FOR PHYSICAL SYMPTOMS – eg Coeliacs can present with faltering growth without any GI symptoms). Look for signs of developmental delay, indications of child abuse.
O/E: Measure height with calibrated stadiometer, take weight – chart. Thorough physical examination to look for dysmorphic features too . Include fudoscopy – check for other signs of hypopituitarism – papilloedema, visual field defects. Calculate mid parental/expected heigh
Initial bloods: FBC (anaemia of chornic disease, Coeliac), U/Es (renal disease, electrolyte imbalance), LFT, TFT (hypothyroid), Urinalysis, ESR, CRP (Crohn), ca/phosphate/alk phos (renal and bone disorders). Speicific test – coeliac (anti-TTG, endomysial IgA), 0900h cortisonl and dexamethasone suppression test (cushing’s), CF, GH provocation tests with insulin/glucagon (GH deficiency), hypothyroid, vit D deficiency, IGF-1, CT/MRI (craniopharyngioma/intracranial tumour)
Bone age: can help predict final adult height by estimating skeletal maturation
When to refer in short stature
Refer if: height fails to progress along appropriate centile curve, decreased growth velocity, dysmorphic/syndromic features, bone age delayed by > 2SD
Deal with underlying cause of short stature
NICE recommends somatotrophin (GH analogue) for: Gh deficiency, Turner’s, Prader-Willi, chronic kidney disae, small for gestational age + subsequent growth failure at >4yo, short stature homeobox gene (SHOX) deficiency
Draw the classification of causes of short stature
Draw the causes of anaemia in infants and children
Draw the simple diagnostic approach to anaemia in children
What is Diamond-Blackfan syndrome?
Congenital red cell aplasia
Features of IDA in childhood
Common infants and toddlers, especially if of Indian descent
Usually dietary in origin
Due to high Fe demands for growth and body stores.
Will occur if infants are weaned at 6m of age
Treated with dietary advice and oral Fe therapy for at least 3m
Features of Beta-thal major
Mutation of beta-globin results in an inability to produce HbA
Condition is fatal without regular blood transfusions although these can cause Fe overload
Treat with desferrioxamine or oral iron chelation
What are some dietary soruces of iron?
High Fe:
Red meat
Liver, kidney
Oily fish
Average Fe:
Pulses, beans, peas
Fortitifed breakfast cereals
Wholemeal products
Dark greens
Dried fruit
Nuts and seeds
What food should be avoided in toddlers (in the context of IDA)?
Cow’s milk
Tea: tannin inhibits Fe uptake
High fibres foods: phytases inhibit Fe absorption
What are the drugs and chemicals that can cause haemolysis in G6PD?
Anitmalarials:
Primaquine
Quinine
Chloroquine
Antibiotics:
Sulphonamides (co-trimoxazole)
Quinolones: ciprofloxacin
Nitrofurantoin
Aspirin in igh doses
Napthalene (mothballs)
Pallor
Jaundice
Bossing of skull
Maxilalry overgrowth
Splenomegaly and hepatomegaly
Beta thalassaemia major
Facies of beta-thal major
What are the complications of LT blood transfusion in children?
Fe deposition (most important- all patients)
Ab formation (10% nof children)
Infection (now uncommon)
VEnous access (common problem)
Anaemia
Infection
Painful crises
Acute anaemia
Pripaism
Splenomegaly
Sickle cell
Vulnerability to infection in SCCD
All have marked increase in susceptibility to infection by encapsulated organisms: HiB, pneumococcus
Children are also at risk of osteomyelitis caused by Salmonella
Consequence of hyposplenism secondary to chronic sickling and splenic microinfarctions
Hand-foot syndrome
Dactylitis with swelling and pain of the fingres and or feet from vaso-occlusion
Painful sickle crises
Manifestations of acut anaemia in SCD?
Haemolytic crises (?infection)
Aplastic crises (parvovirus, temporary)
Sequestration crises
LT problems in SCD
Short stature and delayed puberty
Stroke and cognitive problems (subtle neurological damage may occur)
Adenotonsillar hypertrophy
Cardic enlargement
Heart failure
Renal dysfunction
Pigment gallstones
Leg ulcers
Psychosocial problems
Anaemia in neonates=
<14
Anaemia in 1-12m=
<10
Anaemia in 1-12y
<11
What are the causes of IDA in childhood?
Main causes of iron def anaemia are:
- Inadequate intake
- Malabsorption
- Blood loss – three most common causes:-
- cow’s milk enteropathy
- menstruation
- hook worm infection
Additional iron is required in infants as they are growing and need to build up iron stores
Iron can come from:
- Breast milk (low content but 50% of the iron is absorbed
- Infant formula- supplemented with iron
- Cow’s milk- higher content than breast milk but only 10% absorbed
Solids introduced at weaning but poor absorption
Complications of IDA in chidlhood?
- poorer cognitive, motor and socio-emotional function,
- In older pre-school children, development affected causing poorer motor, cognitive and language development and poorer learning performance and behaviour.
- Severe iron deficiency associated with thrombotic stroke
1st phase: abdo pain with D&V
Apparent recovery 8-16h
Systemic involvement: hypotension, mitochondrial poisoning-> drowsiness
Fe poisoning
When does IDA become symptomatic?
<6-7g/dl
- Tire easily
- Infants feed more slowly than usual
- Pallor of conjunctivae, tongue or plamar creases
- Children may have pica- inappropriate eating of non-food material eg soil, foam rubber
Symptomatic IDA
Low MCV, MCH
Low ferritin
IDA
Mx of IDA
Dietry advice
Oral iron supplement- continues until Hb is normal and then for a further 3 months to build up iron stores
- Sytron- sodium iron edetate
- Niferex- pollysaccharride iron complex
Failure to respons:
- Think compliance
- Consider another cause
- Malabsorption- coeliac
- Chronic blood loss- Meckles diverticulum
Can have iron deficiency with normal Hb
- Low serum ferritin
- Controversial whether to give oral iron
- Treatment favoured as iron deficiency affects intellect and behaviour
Management tends to be- dietry advice with option of oral iron if parents want
Mx of beta-thal major
Treatment
- Monthly transfusions to avoid effects of ineffective erythropoiesis
- Aim to keep Hb> 10 g/dl
- BMT
- Should be done in first 2 years of life
- Generally successful in those with a HLA- identical sibling (90-95% success) (5% chance of transplant related mortality)
- Gene therapy
- Remains experimental
Mx of Fe overload
Iron overload
Chelation started when 10-12 transfusions received or ferritin is >1000micrograms/L
Desferrioxamine- parenteral- usually subcut- 5-6 nights a week
Poor compliance
Effects-
Sensorineural deafness
Visual distrubances
Auditroyr and ophthalmic assessment before starting therapy
Vertebral dysplasia
Growth impariement- growth monitored
Deferiprone
Oral chelator
Removes cariadc iron more effectively
Causes agranulocytosis 1%- full blood count monitoring
Transient arthropathy
Draw the pathophysiology of beta-thal major
What factors exacerbate sickling?
Reduced O2 tension i.e. hypoxaemia
Cold
Dehydration
Illness
Psychological stress
SCA- homozygous for HbS- HbSS- most severe
- Sickle mutation in both B-globin chains
- No HbA
- Small amounts of HbF
HbSC disease
- HbC- due to a different mutation in B-globin chain
- Children inherit one HbS and one HbC
- No HbA as no normal B-globins
Sickle B-thalassaemia
- HbS from one parents and B-thal trait from another
- No HbA
- Symptoms like SCA
Sickle cell trait
- HbS from one parent and one normal B-globin gene
- 40% HbS
- Have HbA
Don’t have sickle cell disease0 carriers
What are the acute cxs that arise a consequence of cell sickling?
- Acute painful crises
- Acute anaemia
- Acute chest syndrome
- Due to infection- mycoplasma, gram neg and gram pos
- Infarction-
- Acute osteomyletis – commonly due to salmonella and staph.
- Acute renal failure- due to vaso-occlusion, dehydration
- Acute stroke- due to infarction- common in children
- Acute eye problems- sudden vision loss or change in vision
Long term problems
- Chornic anaemia due to shorter lifespan of RBC
- Gallstones- due to chronic haemolysis
- Small infarcts can cause cognitive problems (17%)
ridual tubular spiral bodies’
?Sickle cell
Primary care mx of scikle cell disease
Prophylaxis
- Increased risk of encapsulated organism due to damaged spleen
- Fully immunised
- Daily oral penicillin in childhood
Once daily folic acid due to increased RBC turnover
Avoid cold, exercise, dehydration to reduce sickling
Sickle cell Crisis
If fever and origin known can be managed within community with relevant treatment
If only mild crisis
-advise parents to :
- increase fluid intake
- distraction teqhnicues
- can prescribe paracetamol and ibuprofen (careful in those with renal impairment)
- Codeine phosphate if those not effective
Secondary management of SCA
Sickle cell crises
Admit if suspect sickle- cell crisis with high fever
Child will have dactylitis as a presentation
Admit if acute chest syndrome- dyspnoea, confusion, hypoxia
- IV fluids
- Strong opiates
- Spirometry every 2 hours for those with ACS
Transfusions
- the normal steady level of Hb for the patient should be known as will be lower than normal
- transfusions given if decreased below this level
- if Hb increases from their steady state level can cause hyperviscosity
- transfusions normally given if- splenic sequestration or decreased RBC (red cell aplasia)
Exchange transfusions
- to reduce percentage of HbS and reduce sickle related complications
given in sepsis, acute stroke, ACS
Neonatal Jaundice- 1st three days of life
- most common cause of neonatal jaundice and requires exchange transfusion
Acute intravascular haemolysis
- fever
- malaise
- dark urine
- Hb levels fall rapidly (<5 g/dl over 24-48 hrs)
precipitated by
- infection (most common)
- drugs
- fava beans
- naphthalene in moth balls
Gallstone history
Normal between episodes
G6PD- X linked recessive
FBC
Raised reticulocytes
Blood film- Heinz bodies
Direct antiglobulin test negative
G6PD
What is important about measuring G6PD in RBCs?
Measuring G6PD in RBC
- during a haemolytic episode G6PD may be raised as increased reticulocytes produced by BM to compensate- retics have higher G6PD
one measurement needed between episodes
What accounts for 80% of leukaemias in children?
ALL
Def: ALL
Accounts for 80% of leukaemias in children
Clonal prliferations of cells from the lymphoid progenitor cells
Can be T-cell origins but most are B-cell
Lymphoid precursors proliferate and replace normal cells
Blasts (immature cells) seen in the peripheral circulation
Peak age is about 2-4 years
- Fatigue, dizziness and palpitations
- Severe and unusual bone and joint pain
- Recurrent and severe infections (oral, throat, skin, perianal infections commonly)
- Fever without obvious infection
- Left upper quadrant fullness and early satiety due to splenomegaly (10-20%)
- Dyspnoea (due to anaemia)
- Headache, irritability
- Thrombocytopenia- bruising, nose bleeds
?ALL
What is the gold standard for Dx of ALL?
BM aspirate showing >20% blasts
Mx of ALL
Remission induction
Combination chemo (vincristine, dexamethasone cylclopho) goal is to
- To eliminate more than 99% of the initial burden of leukaemic cells
- To restore rapidly normal haematopoiesis
- To restore previous performance status
Consolidation and CNS protection
Intensive chemo given to consolidate remission
- Chemo cannot reach CNS
- Intrathecal chemo is given to prevent CNS relapse
- IT vincristine, methotrexate
Maintenance
Chemo of modest intensity
Continues for at least 3 years after diagnosis
- Monthly vincristineand dexameth
- Weekly oral methotrexate
- Prophylactic co-trimoxazole to prevent PCP
- Itrathecal methotrexate
After relapse
High dose chemo
BMT considerations with total body irradiation
Mucous membrane bleeding and skin haemorrhage
Platelet disorders:
vWD
Bleeding into muscles or into joints
Haemophilia
Scarring and delayed haemorrhage suggestive of
CT disorders e.g. Marfan’s, factor XIII defieicny
Draw the causes of purpura or easy bruising
Draw the causes of abnromal bleeding in a child
Def: ITP
Isolated low platelet count (<150x109) in the absence of other causes of thrombocytopenia
May be accompanied by compensatory increase in megakaryocytes in the bone marrow
2-10 years old
Short history of days/weeks
1-2 weeks after viral infection
Petechiae, purpura and/or superficial brusing
Epistaxis, mucosal bleeding
Profuse bleeding is UNCOMMON
ITP
Dx of ITP
Dx of exclusion
FBC
Blood film
Bone marrow examination
Mx of ITP
80% is self-limiting
Most do not need treatment (even if platelet <10x109/L)
Only given if evidence of major bleeding (intracranial/GI haemorrhage) or persistent minor bleeds
Oral prednisolone, IV anti-D, IV immunoglobulins
Advice: avoid trauma/contact sports
Def: chronic ITP
Platelets remain low 6m after the Dx
Mx of chronic ITP
Chronic ITP (platelets remain low 6 months after diagnosis)
SUPPORTIVE
Drug treatment given only with persistent bleeds:
Rituximab (anti-CD20 mAb)
Thrombopoietic growth factors
Splenectomy (those who fail drug therapy)
Screen regularly for SLE as it may predate development of autoantibodies
Which type of haemophilia is more comon?
Haemophilia A
Cx of the ahemophilias
Arthritis if bleeds not controlled
Complications of treatment
Inhibitors/antibody formation to FVIII or FIX
Transfusion transmitted infection (Hep A,B,C, HIV)
Vascular access – central venous access à infection, thrombosis
intracranial haemorrhage, bleeding post-circumcision or prolonged bleeding from heel stick/venepuncture
Haemarthroses
Large haematomas
?Haemophilia
Ix in haemophilia
Detailed FHx
Analysis of coagulation factors
Primary care mx of haemophilia
Home treatment – replacement therapy
Prophylactic factor replacement for severe haemophilia
Desmopressin for mild haemophilia A (no need for blood products)
àstimulates FVIII and vWF release
Severity of haemophilia:
Mild
Bleeds after surgery
Severity of haemophilia:
Moderate
Bleeds after minor trauma
Severity of haemophilia:
Severe
Recurrent,
spontaenous,
muscle bleeds
Secondary Mx of haemophilia
Prompt IV infusion of recombinant FVIII/IX concentrate
If recombinant unavailable, highly purified, virally inactivated plasma-derived products
Raising circulating factor level to ~30% normal is sufficient to treat minor bleeds/simple joint bleeds
Major/life threatening bleeds require 100% - maintained 30% for 2 weeks to prevent 2° haemorrhage (regular/continuous infusion)
Intramuscular injections, aspirin, NSAIDs AVOIDED AT ALL COST #
Def: vWD
Quantitative or qualitative deficiency of von Willebrand Factor (vWF)
Causing
à defective platelet plug formation
à deficiency in FVIII:C
Different subtypes but inheritance is usually autosomal dominant
Commonest subtype, Type 1, is fairly mild and is often not diagnosed until puberty/adulthood
Mucosal bleeding
à Epistaxis and menorrhagia
Bruising
Excessive, prolonged bleeding after surgery
Family history of bleeding
Spontaneous, soft tissue bleeding are UNCOMMON
vWD
Ix in vWD
Prothrombin time (PT)
Activated partial thromboplastin time (APTT)
RBC
vWF antigen
vWF function assay (ristocetin cofactor and collagen binding assays)
Factor VIII activity
Consider: vWF multimer analysis, platelet aggregometry
Mx of vWD
Mild disease/Type 1 vWD
DDAVP which causes endogenous release of FVIII and vWF
Use with caution <1 years as it can cause hyponatremia, seizures
Severe disease
Plasma-derived FVIII concentrate (recombinant FVIII would not contain vWF)
Intramuscular injections, aspirin, NSAIDs AVOIDED AT ALL COST #
Paediatric HIV classification:
Category N
Asymptomatic
Paediatric HIV classification:
Category A
Mild immunosuppression: >2 of
lymphadenopathy, hepatomegaly, splenomegaly, parotitis, dermatitis, recurrent URTI/sinusitis/otitis media
Paediatric HIV classification:
Category B
Moderate immunosuppression:
Bacterial meningitis/pneumonia/sepsis (1 epsidoe)
Oropharyngeal candidiasis >2m duration
Recurrent/chronic diarrhoea
Lymphocytic interstitial pneumonitis
Purpura due to thrombocytopenia
Nephropathy
Disseminated varicella
Fever >1m
Paediatric HIV classification:
Category C
- severe AIDS-defining illness: opportunistic infections (Pneumocystus carinii pneumonia), severe failure to thrive, encephalopathy (may present with developmental delay), malignancy
- children with SPUR infections (serious, persistent, unusual, recurrent) should be tested for HIV
may present with complications of vaccination (eg: disseminated BCG)
Secondary causes of immunodeficiency
HIV, intercurrent bacterial/viral infection, malignancy, malnutirtion, immunosuppression, nephrotic syndrome
haematological disorders causing hyposplenism e.g. SCD
TB, CF, EBV
Neglect
Malabsorption
metabolic disease
Dx of HIV
<18m
HIV DNA PCR is used for diagnosis. Positive maternal IgG HIV antibodies only indicate exposure but not infection
Dx of HIV
>18m
Crtieria for child being non-HIV infected:
- Infants should be tested at 1 day, 6 weeks and 12 weeks of age. If all these tests are negative and the baby is not being breastfed, the parents can be informed that the child is not HIV-infected
A confirmatory HIV antibody test is performed at 18 months of age.
Mx of HIV in pregnancy
HAART for mother
C section
Avoid breast feeding
Mx of infants born to HIV-infected mothers?
Test for HIV
Postnatal ART chemoprophylaxis within 4 hours of birth
Monotherapy of zidovudine normally given, if high risk of HIV start HAART
HAART in children
Initiate in HIV positive children <1 because infants have a higher risk of disease progression
Mx of children with confirmed HIV infection
Specialist ID paediatrician
Refer to PENTA guidelines:
he guidelines recommend that ART should be started:
In all HIV-infected children under 1 year of age.
In all children with significant disease (WHO stage 3 or 4 or CDC stage B or C).
In asymptomatic children over 1 year of age based on age-specific CD4 count thresholds (as detailed in the PENTA guidelines).
Before the CD4 count reaches the CD4 treatment threshold.
In those with hepatitis C virus or active TB co-infection.
Other possible indications are:
Asymptomatic children over 5 years at CD4 counts of 350-500 cells/μl, to potentially optimize CD4 count in adulthood.
Children with a high viral load (>100,000 copies/mL).
Asymptomatic children aged 1-3 years irrespective of immune status and viral load.
Sexually active adolescents, to minimise the risk of onward transmission.
Significant HIV-related clinical symptoms.
Hepatitis B virus co-infection irrespective of immune status.
Infection prophylaxis in HIV-positive infants
Receive co-trimoxazole against PCP regardless of CD4 count
After that its use depends on specific CD5 count
LT management of HIV infected children
- Ix and tx co-morbid infx eg: hepatitis, EBV, CMV, HSV, MMR, toxoplasmosis, malaria film, mantoux test
- Monitor CD4 counts, viral load, regular screening
Other issues to consider: Assess compliance, disclosure of HIV diagnosis, future planning for child, planning for future pregnancies
Limbs the most common site
Persistent localised bone pain – more severe at night and imporves with NSAID
Sweeling
Poss pathological #
Otherwise well
Osteogenic sarcoma
How can causes of developmental delay be classified?
Prenatal
Perinatal
Postnatal
Def: delay
Slow acquisition of skill
Def: LD
In relation to children of school age- cognitive, physical, specifical funcitonal skills
Def: disorder
Maldevelopment of skill
Def: impairment
Loss/abnromality of normal physiological funciton/structure
Def: disability
Restriction/lack of ability due to impariment
Ex in developmental delay
FHx
Obstetric hx
Developmental hx
Trauma and infeciton
School reports
Regression
Assess risk of NIA/neglect
O/E:
Look for growth patterns
Test all 4 domains of development
Look for dysmorphic features
Neurological examinatoin
CVS exam for abnormalities linked to dysmorphic syndromes
Visual funciton and ocular abnormalities
Hearing
Patterns of mobility hand dominance etc
Cognition
Ix in developmental delay
Cytogenic – karyotyping, fragile X analysis or FISH analysis
Metaboli – TFT, LFT, bone chem, U/Es, special tests for inborn errors
Infection- congenital infection screen (TORCH: Toxo, Other (syphilis), Rubella, CMV, Herpes)
Imaging – Cranial USS in newborn, CT/MRI briain, skeletal survey, boen age
Histopath – nerve, muscle biopsy
Others – hearing, vision, cognition, therapy/psych/dietician/school assessment
Def: cerebal palsy
Abnormality of movement and posture causing activity limitation attributed to non-progressive disturbances (lesions non-progressive but clinical manifestations emerge over time, motor disorder can evolve) that occurred in the developing fetal or infant brain. Accompanied by disturbances in other areas too. 2/1000 live births
*Term used until age up to 2years, after that – acquired brian injury is the proper term
Aetiology of CP
80% antenatal: vascular occlusion, congenital infection, genetic disorder, cerebral dysgenesis
10% perinatal: birth asphyxia, metabolic disorder
10% postnatal: injury/trauma, infexn-encephalitis/meningitis, hypoglycaemia, hydrocephalus, hyperbilirubinaemia (kernicterus), brain abcess, space-ocucpying lesion, cyanotic heart disease à thrombi
- abnormal posture, tone in limb and trunk
- delayed motor milestones
- slowing of head growth
- feeding difficulties
- abnormal gait
- asymmetric hand function/showing limb dominance before 12 months (kids don’t show this till later so if present pathology)
- primitive reflexes persists stop development from progressing
Early features of CP
How can CP be classified
Spastic
Dyskinetic
Ataxic/hpotonic
Early trunk and limb hypotnoia, poor balance, delayed motor milestones à intention tremor, incoordinate movemnts, ataxic gait. Genetically determined but if acquired injury to cerebellum- same side as lesion, but can be relatively symmetrical
Ataxic CP
intellect unimpaired, floppy/poor trunk control, delayed motor development à involuntary movements at end of 1st year of life – uncontrolled, stereotyped; more evident with active movement/stress. Eg. Chorea – irregular, sudden, brief and non-repetitive; athetosis – slow writhing movement, more distally; dystonia – simultaneous contraction of agonist and antagonist muscles of trunk and prox muscles à twisting.
Dmg/dysfnx of basal ganglia, extrapyramidal pathways – most commonly due to HIE
DDx of uncontrollable momvements= kernicterus, Wilson’s, anti-emetics (pehnothiazines,metoclorpromaide, prochlorperazine), strep (grp A β-haemolytic)
Dyskinetic CP
damage is to UMN (pyramidal or corticospinal tract) à increased muscle tone (velocity dependent, fast stretched = greater resistance à dynamic catch!!! à resistance will yield under pressure – clasp-knife)
- hemiplegia – unilateral involvement of arm and leg, arm>leg. Present at 4-12months, flaccid and hypotonic initially à spasticity develops. PMHs can be unremarkable – some neonatal stroke à larger lesions = hemianopia
- quadriplegia: all 4 limbs, trunk extensor posturing (opisothonus), poor head control and low central tone. Seizures, microcephaly, moderate-sev IQ impairement. Perinatal HIE
- diplegia: all 4 limbs but legs >> arms, hand fxn looks relatively normal. Abnormal gait. Associated with preterm birth due to periventricular brain dmg (PVL/IVH)
Spastic cerebal palsy
Ix in CP
MRI useful to confirm but unnecessary
Clinical diagnosis by observation and testing of movements (with therapist, use of toys)
If isolated motor delay – CPK/CK to rule out muscle dystrophy
Mx of CP
Refer to neurodevelopmental disability clinic
- Give parents diagnosis and information early – prognosis hard to say
Wide range of associated medical, psych and social problems so MDT is v impt
- Specialist health visitor = coordiates MDT, advice on development of play, local authority schemes
- Dietician
- Social worker/services: benefits – disability, mobility, housing, respite care, support agencies for patient and for cares; day nursery placements, advocate for child/family, statemetning and register of child with special needs
- Clinical psychologist & educational psychologist= cognitive testing, educational advice, behaviour mgmt.
- Paediatrician = Assessment, ix and dx, continue medical mgmt., coordinate input from therapists/other agenice
- SALT= feeding, lang devep
- OT= hand eye coordination, ADL, housing adaptations
- PT = balance nad mobility, posture maintenance, mobility aids/orthoses, prevent contractures/spinal deformities
GP =
Def: Abnormal speech and language development
Can be receptive , expressive speech & language or both. Can be in technicalities of speech production – stammering, dysarthria, verbal dyspraxia; or in understanding meaning – inability/diffulty producing when he knows what is needed to be said, pragmatics, semantics, social/comm skills
Ix in speech and language problems
- In history-is this a speech or language problem? Speech disorder- words unintelligible, but child can comprehend vs if both comprehension and speech language difficulty. FHx, when parents have noticed this, birth Hx, other parts of development, can the kid hear (when you call out his name does he respond? PMHx- ear infexns etc
- O/E – look into the ears – otitis media?
- Look at other areas of development (in early years- large overlap with IQ development), autism has problems with social/interpersonal problems , LD other areas affected too
- Hearing test
- SALT assessment
Test of language development: Symbolic toy test – early language development and Reynell test for receptive and expressive language – pre-schoolers
Def: hearing impairment
Sensorineural: May be profound (>95dB hearing loss)
progressive
genetic, congenital infection, prem, HIE, hyperbili, meningitis/encephalitis, head injury, drugs (aminoglycosides, frusemide, neurodegerative disorders
Conductive: Max 60dB hearing loss
Glue ear, Eustachian tube dysfunction (Downs, Cleft palate, Pierre Robin sequence, Mild facial hypoplasia), wax
Low intelligence thresholds
Borderline and Mild – IQ 70-80
Moderate – IQ 50-70
Severe – IQ 35-50
Profound – IQ <35
When is mild LD identified?
When child starts school
Features of dyspraxia
- Disorder of motor planning +/- execution with no significant findings on standard neuro examination. Disorder of higher cortical processes assoc/ problems of perception, use of language and putting thoughts together
- Features: problems with…
- Cutting up food
- Poorly established laterality
- Copying and drawing
- Messy eating, dribbling
- If mild, undetected during the first few years of life
- Ix: OT, SALT assessment, visual assessment
- Tx: therapy (sensory integration ,sequencing and executive planning)
- Improve with therapy and maturation
Def: dyslexia
Child’s reading age is >2y behind chronological age
Draw the causes of developmental delay
Draw the classificaiton of hearing difficulties in children
For what is DS a risk in terms of hearing?
Congenital conductive deafness
What are the hearing tests that can be used in older children
Distraction hearing test
Speech discrimination test
Visual reinforcement audiometry
Impedance audiometry tests (test if middle ear is functioning)
Mx of sensorinueral hearing impairment
Sensorineural hearing impairment – need early amplification with hearing aids for speech and language development à if this gives insufficient amplification, cochlear implants required
- loss of red reflex due to cataract
- white reflex – retinoblastoma, cataract, retinopathy of prematurity
- not smiling by 6 weeks
- lack of eye contact
- visual inattention
- random eye movements
- squint = strabismus -> may have FH
photophobia
?Visual defect
Draw classification of causes of visual impairment
Def: LD
Learning disability = Significant impairment of all 3 of:
- intellectual functioning (IQ<70)
- social or adaptive functioning
- both of these impairments present before 18 years old
Cause of moderate,severe, profound LD
Usually organic:
brain damage
genetic abnormalities
hypothyroidism
What are the genetic causes of LD
DS
Fragile X
PWS
Angelman
What is the commonest genetic cause of LD
DS
Ix LD
Exclude organic causes – hearing and vision tests, TFT
Intellectual impairment assessed by WAIS III = Wechsler Adult Intelligence Scale
Adaptive/social functioning assessed by ABAS II = Adaptive Behaviour Assessment Scale
Clinical interview and school reports
What tool can be used to assess intellectual impairment?
WAISIII
Weschler Adult Intelligence Scale
What can be used to assess adpative/social funcitoning?
ABASII
Adaptive behaviour assessment scale
Def: ASD
Impairment of social interactions and social communication combines with restricted interest and rigid and repetitive behaviour
If only some of the features are present then child is said to have autistic features and not the full spectrum
Aperger syndrome- have social impairment of autism ( milder) but near normal speech development
Cx of ASDs
General learning and attention difficulties
Seizures- not until adolescence
What are the domains affected by ASD
Impaired scoial interactions
Speech and language disorders
Ritualistic and repetitive behaviour
What are the features of impaired social interactions in ASD?
- No close friendships, doesn’t seek comfort
- Prefers own company
- No interested in play
- Gaze avoidance
- Doesn’t appreciate others have though and feelings
- Cannot appreciate social cues
What are the features of SAL in ASD?
- Limited gestures and facial expressions
- Monotonous voice
- Over literal interpretation of speech
- Formal pedantic language
- Echoes questions, repeats instructions
What are the features of ritualisitc and repetitive behaviour in ASD
- Violent tempers if disrupted
- Tiptoe gait and hand flapping
- No imagination in lay
Peculiar interest and repetitive adherences
Mx of ASD
Refer if ?autism
Establish a team of healthcare professional swho are responsible for the care
Lead clinician- generally paediatrician
Treatment with:
Applied behavioural analysis, requires 20-30h of therapy each week so time consuming and not often used but can
Help reduce ritualistic behaviour
Develop language
Develop social skills
Learn to play
Def: colic
A common symptom complex that occurs during thye first few months of life marked by paroxysmal, uncontrollable crying in an otherwise healthy, well fed baby
Paroxysmal incosolable crying or screaming
Drawing up of the kness
Passing excessive flatus several times a day particularly in the evening
?colic
Mx of colic
Normally resolves by 4m
Benign condition
Support and reassurance of parents
If severe and persistent, start to think about GORD or CMPA
Empiricaly 2 week trial of whey hydrolysate formula, followed by antireflux trial
- Predominantly negative moods – whinging, moaning, crying
- Intense emotional reactions – screaming rather than whimpering, jumping for joy rather than smiling
- Irregular biological functions – a lack of rhythm in sleeping, hunger or toileting
- Negative initial responses to novel situations, e.g. pushing a new toy away
Protracted adjustment to new situations – taking weeks or months to settle into a new playgroup
Difficult temperament
NB this pattern is a vulnerability factor for future emotional and behavioural problems
What are the advanatges of breast feeding for the infant
Ideal nutrition
Lifes saving in developing countries
Reduces the risk of GI infection and NEC in preterm
Enhacnes realtionship
Reduces risk of IDDM and HTN and obesity in later life
Advantages of breast feeding for the mother
Promotes close attachment between mother and baby
Increases the time interval between children
Helps with a possible reduction in premenopausal breast cancer
What are the properties of breast milk that explain its advantages
Anti-infective:
Secretory IgA
Bifidus factor: promotes lactobacillus bifidis
Contains bacteriolytic enzymes and antiviral agents
Cellular factors
Easily digestible protein
Good lipid quality
Ca:P 2:!, prevents hypocalcaemic tetany and improces Ca absorption
Low renal solute load
Bioavailable Fe
Contatins long chain poly-unsaturated acids that are important in retinal development
What are the potential complications of breast feeding?
Unknown volume of milk
Infection transmission
Breast-milk jaundice
Drug transmission
Nutrient inadequacies
Vit K deficiency
Potential transmission of environmental contaminants
Less flexible
Potentially emotional upset if there are difficulties
How can breast feeding lead to nutrient inadequacies?
Breast-feeding beyond 6m without timely introduction of appropriate solids may lead to poor weight gain and ricekst
Pain – back/joint/limb/genital pain
CVS/resp – breathing difficulty, palpitations, chest pain
Abdo – stomach pain, N + V, poor appetite
CNS – headache, dizziness muscle weakness, tremor
Pattern: recurrent, improves on weekends/school holidays, associated with non-attendance, presence of stressors
Somatisation
When should an organic cause of ?somatisation be suspected?
PAIN WAKING CHILD
- family history of similar symptoms
- unexplained fever
- significant diarrhoea/vomiting
- involuntary weight loss
- poor growth
- raised ESR
Mx of somatisation?
- Education - good prognosis for resolution (50% improve)
- Pain management – relaxation, distraction
- Manage underlying factors – may have to reduce reinforcement by parents, normalize activities, non-pain based shared activities, reduce stressors and risk factors
- Manage co-morbidities – anxiety/depression
Referral to CAMHS if co-morbidities exist, persistent or suicidal
If persistent (15% of children), family CBT may be necessary
Round face, flat nasal bridge
Upslanted palpebral fissures
Epicanthic folds
Brushfield spots in iris
Small mouth, protruding tongue
Small ears
Flat occiput and 3rd fontanelle
Short neck
Single palmar creases, incurved 5th finger and wide ‘sandal’ gap between toes
hypotonia
congenital heart defects (40%), duodenal atresia, Hirschsprung disease
Later medical problems
Delayed motor milestones
Mod to severe learning difficulties
Small stature
↑risk of infections
DS
Mx of DS
Early intervention: PT, SALT
Counsel parents for assistance available – professional and family support groups (Downs Syndrome Association)
Counsel also for assisting family with dealing with feelings of grief, anger, guilt etc
Child Development Service – coordinate care
- Regular review or development and health
- SALT, physio, OT, dietician, GP, social worker, audiologist, ophthalmologist, paediatrician, cardiologist
SEN, Specialist schools
Cx of Turners
- Cardiac complications
- ↑risk of AI conditions
- HTN common
- Renal abnormalities → recurrent UTI
- Vision problems
- Hearing impairment due to persistent ear infections
Osteoporosis
Females
In utero USS: oedema of the neck, hands or feet, cystic hygroma
Live-born: lymphoedema of hands and feet in neonate (may persist)
- Spoon shaped nails
- Short stature
- Neck webbing
- Cubitus valgus
- Widely spaced nipples
- Congenital heart defects (esp coarctation of the aorta)
- Delayed puberty
- Ovarian dysgenesis → infertility (primary amenorrhoea)
- Renal anomalies
- Pigmented moles
- Recurrent otitis media
- Normal intellect in most
Turner
Mx of Turners
GH therapy
Oestrogen replacement
Def: Noonans snydorome
Turner-like syndrome in males
Cauised by AD mutation, normal karyotype
In utero: polyhydraminos, pleural effusions, oedema, increased nuchal fluid with normal karyotype
- Characteristic facies – more apparent during childhood
(low set ears, ptosis, anti-mongoliod palpebral slant, wide spacing of eyes)
- Occasional mild learning difficulties
- Shorted webbed neck with trident hair line
- Pectus excavatum
- Congenital heart disease (esp. pulmonary stenosis, atrial septal defect)
- Scoliosis, joint laxity, cubitus valugus
Short stature (80%)
Noonans
Mx of Turners and Noonans
GH therapy (oestrogen development)
Surgery for cardiac abnormalities
Involvement of dentist
Genetic counselling
- After short period of normality, severe neonatal illness with poor feeding, vomiting, encephalopathy, acidosis, coma and death
Infant/older child – similar to above but hypoglycaemia a prominent feature or as Acute life-threatening episode, or near-miss cot-death
Subacute: period of normal development with regression, organomegaly and coarse facies
?Metabolic disorders
- Facial abnormalities (Microcephaly, Flat philtrum, Thin upper lip, Retrognathia in infancy, micrognathia or relative prognathism in adolescence and a low nasal bridge, Microphthalmia, strabismus, ptosis and short palpebral fissures
Cleft palate, Posterior rotation of the ears
- IUGR, FTT
- Neuro-developmental delay
ADHD, memory problems, poor problem solving skills
Poor coordination, speech and language delay, sucking and feeding problems in neonate
- Congenital heart defects: ASD, VSD
- Urogenital defects: cryptorchidism, hypoplastic labia
- Partial deafness, visual disability
FAS
Low birthweight
Prominent occiput
Small mouth and chin
Short sternum
Flexed, overlapping fingers
Rocker bottom feet
Cardiac and renal malformations
Efwards syndrome (trisomy 18)
Structural defect of brain
Scalp defects
Micropthalmia and other eye defects
Cleft lip and palate
Polydactyly
Cardiac and renal malformations
Patau (trisomy 13)
Infertility
Hypohonadisim
Pubertal development may appear normal
Gynaecomastia in adolescence
Tall stature
Intelligence usually in the normal range
Klinefelter syndrome
Moderate-severe LD
Macrocephaly
Macro-orchidism
Characteristic faces: postpubertal, large everted ears, prominent mandible and broad forehead
Mitral valve prolapse, joint laxity, scoliosis, autism, hyperactivity
Fragile X
Short stature
Characteristic facies
Trnaisnet neonatal hypercalcaemia
CHD
Mild to moderate learning difficulties
Williams syndrome
Characteristic facies
Hypotonia
Neonatal feeding difficulties
FTT
Obesity later in childhood
Hypogonadism
Developmental delay
LD
PWS
Edwards
Patau
Fragile X
Noonan
Williams syndrome
PWS
What are the areas in which children need safeguarding
Physical abuse
Emotional abuse
Sexual abuse
Neglect
Fabricated or induced illness
- Babies: apathetic, delayed development, non-demanding; described negatively by mother
- Toddlers, pre-schoolers: violent, apathetic, fearful
Emotional abuse
- Physical symptoms: vaginal bleed/itching/discharge, rectal bleed
- Behavioural: soiling, secondary eneuresis, self-harm, aggressive/sexualised behaviour, regeression, poor school performance
?sexual abuse
Def: neglect
persistent failure to meet a child’s basic physical and/or psychological needs – likely to result in serious impairment of health or development. Failure to provide: food, clothing. Shelter, protection, supervision
- Child consistently misses medical appointments.school, lacks medical and dental care, seems ravenous, no glasses/immunisations when needed, inadequate clothing in winter, dirty, abusing substances, says no one is at home to care for them
- Caregiver appears indifferent, apathetic or depressed. Behaves irrationally/bizzarely, is abusing etoh/drugs.
?Neglect
What are the risk factors for abuse
- In child: failure to meet parental expecations, resulted from unwanted pregnancy
- Parent/carer: mental health problems, indifference, intolerance over-anxiousness, alcohol/drug abuse
- Family: step-parents, domestic violence, multiple/closely spaced births, social isolation or lack of social support, young parental age
- Environment: poverty, poor housing, dangerous neighbourhood
What are the red flags for NAI
Injuries in very young children
Explanations which do not match the appearance of injury and sound unconvincing
Multiple tpyes and age of injury
Injuries which are classic in site or character
Delay in presentation
Things the child may communicate during te evaluation
Bruises in toddlers
Multiple brusises are commonly found on the legs of any toddler
Brusises at other sites may be suspicious
Pattern of the bruise may indicate how it was acquired
Burns/scalds in NAI
When a toddler accidently scalds themselves the scald is usually irregular/asymmetrical
Inflicted scalds are classically symmetrical e.g. donut shaped lesion on the buttocks where the bottom of the bath protects wthe skin from contact with hot water.
How to find hidden head injuries
Examine the fundi for retinal haemorrhages which may occur when a baby is shaken and can be associated with the presence of SDHs
Examination for signs of sexual abuse
Should only be carried out by an experienced paediatrician
Mx of NAI
Thorough hx and examination
Careful documentation
Measure height weight etc
Treat specific injuries
If abuse suspected/confirmed, need to decide if the child needs immediate protection- admit to hospital as place of safety, legal enforcement may be required. May have to be placed in a foster home
Immediately alert seniors, safeguarding team at hospital and follow local procedures.
CHILDS SIBLINGS
Police and social services
Strategy meeting:
Decide whether child needs child protection plan
Whether there should be a court applicaiton to protect the child
Whether F/U is necessary
What is the fraemwork to assess child safeguarding and to promote welfare
Child’s developmental needs
Family and environemntal factors
Parenting capacity
What are the mechanisms for immediate protection of a child
Risk to the life or of serious, immediate harm: ACT IMMEDIATELY TO SECURE SAFETY OF CHILD
If it is necessary to remove a child forom their home: Emergency Protection Order (police can do this without court approval as a last resort)
Local authority is responsible for taking emergency action.
Children Act can be used
What is the Section 47 of the Children Act
Section 47 of the Children Act 1989 places a duty on LAs to investigate and make inquiries into the circumstances of children considered to be at risk of ‘significant harm’ and, where these inquiries indicate the need, to decide what action, if any, it may need to take to safeguard and promote the child’s welfare. The investigation will form a core assessment, which is an in-depth assessment of the nature of the child’s needs and the capacity of his or her parents to meet those needs within the wider family and community context.
The results of that assessment will form part of the LA’s evidence if it commences proceedings for a Care or Supervision order.
Dx of laryngomalacia
Flexible laryngoscopy by ENT in OPD
Omega shaped epiglottis or arytenoid cartilage
Laryngomalacia
What tool can be used to assess croup and what are hte domains?
Westley Clinical scoring system
Inspiratory stridor
Intercostal recession
Air entry
Cyanosis
Level of consciousness
What patient group may receive prophylaxis vs bronchiolitis
What is this?
High risk infants e.g. O2 dependent survivors of prematuriy
Palivizumab
What is the most common cause of clubbing in children?
CF
What is the commonest cause of acute deterioration in chronic asthma?
Poor adherence
What is the commonest cause of cyanosis in the newborn
TGA
