Paediatrics Flashcards
4 domains for development
gross motor
Fine motor
Language
Personal and social
Milestones for gross motor
4 months - head support 6 months - sitting 9 months - sit unsupported, crawl 12 months - stand and cruising 15 months - walking 18 months - squat 2 years - run, kick a ball 3 years - climbing stairs 4 years - hop, climb
Milestones for fine motor and what to test in developmental assessment
8 weeks - fix and track with eyes 6 months - palmar grasp 9 months - scissor grasp 12 months - pincer grasp 14-18 months - use a spoon
In developmental assessment - test drawing skills, tower of bricks, pencil grasps
Milestones for language
3 months - recognises voices and makes cooing noises
6 months - responds to tone of voice and makes noises with consonants
9 months - listens and makes babbling noises
12 months - follows simple instructions and uses single words
18 months - understands nouns and uses 5-10 words
2 years - understands verbs and uses 2 words combined, 50+ words
3 years - understands adjectives and uses basic sentences
Personal and social developmental milestones
6 weeks - smiles 3 months - communicates pleasure 6 months - curios 9 months - cautious with strangers 12 months - pointing and waving 18 months - imitates 2 years - waves to strangers and parallel play 3 years - bowel control 4 years - friends and dry by nigh t
Red flags in development
Lost developmental milestones Not able to hold an object at 5 months Not sitting unsupported at 12 months Not standing independently at 18 months Not walking independently at 2 years Not running at 2.5 years No words at 18 months No interest in others at 18 months
What is global developmental delay?
a child displaying slow development in all developmental domains
causes of global developmental delay
Down’s syndrome Fragile X syndrome Fetal alcohol syndrome Rett syndrome Metabolic disorders
Causes of developmental delay specifically to gross motor domain
Cerebral palsy Ataxia Myopathy Spina bifida Visual impairment
Causes of developmental delay specifically to fine motor domain
Dyspraxia Cerebral palsy Muscular dystrophy Visual impairment Congenital ataxia (rare)
Causes of developmental delay specifically to language domain
Specific social circumstances, for example exposure to multiple languages or siblings that do all the talking Hearing impairment Learning disability Neglect Autism Cerebral palsy
Causes of developmental delay specially to language domain
Emotional and social neglect
Parenting issues
Autism
Causes of joint swelling in children
Avascular necrosis (e.g. perthes) Reactive (viral, strep, post gastroenteritis) Haematological (leukaemia) Rickets Idiopathic Tumour Infection Systemic (SLE, vasculitis, sarcoidosis, IBD CF) Juvenile idiopathic arthritis (JIA)
What is anaemia?
low level of haemoglobin in the blood.
What is the most common cause of anaemia in children?
Physiologic anaemia of infancy
causes of anaemia in children
Physiologic anaemia of infancy anaemia of prematurity Blood loss Haemolysis Twin-twin transfusion (blood is unequally distributed between twins that share a placenta)
Causes of Haemolysis in neonates
Haemolytic disease of the newborn (ABO incompatibility or rhesus incompatibility)
Hereditary spherocytosis
G6PD deficiency
What is physiologic anaemia of infancy?
There’s a normal dip in Hb at 6-9 weeks old
There’s high Hb levels at birth, so lots of oxygen delivered to tissues. This causes negative feedback to the kidneys so less erythropoietin is produced = less Hb produced by bone marrow
What is anaemia of prematurity?
Premature neonates more likely to become anaemic & required blood transfusion
Reasons for this:
1 Less time in utero receiving iron from mum
2 RBC creation cannot keep up with rapid growth
3 Reduced erythropoietin levels
4 Blood tests remove significant portion of their circulating volume
What is haemolytic disease of the newborn?
Haemolysis (RBC breakdown) and jaundice in a neonate. Caused by rhesus incompatibility or ABO incompatibility
What happens in rhesus incompatibility?
The mum is rhesus D antigen negative and the baby is positive
The blood from the Cetus enters the mums bloodstream and she makes antibodies to rhesus D antigen
Mum is then sensitised to rhesus D antigens
Doesn’t usually cause problems in the first pregnancy - unless sensitisation happens early on due to antepartum haemorrhage
In subsequent pregnancies, the anti-D antibodies can cross the placenta to the foetus
If the foetus is rhesus +ve, the antibodies attach to RBCs and the fetus attacks its own blood cells = Haemolysis
Causes anaemia and high bilirubin
What ix to diagnose immune haemolytic anaemia in a newborn
Direct Coombs test (DCT)
Causes of anaemia in older children
Iron deficiency anaemia due to dietary insufficiency
Blood loss - menstruation in older girls or hookworm in developing countries
Rarer causes: Sickle cell anaemia Thalassaemia Leukaemia Hereditary spherocytosis Hereditary eliptocytosis Sideroblastic anaemia
Symptoms of anaemia
Tiredness Shortness of breath Headaches Dizziness Palpitations Worsening of other conditions
specific symptoms of iron deficiency anaemia
Pica = describes dietary cravings for abnormal things such as dirt
Hair loss
signs of anaemia
Pale skin
Conjunctival pallor
Tachycardia
Raised respiratory rate
signs of iron deficiency anaemia
Koilonychia refers to spoon shaped nails
Angular chelitis
Atrophic glossitis is a smooth tongue due to atrophy of the papillae
Brittle hair and nails can indicate
signs of haemolytic anaemia
jaundice
signs of thalassaemia
bone deformities
Ix for anaemia in children
Full blood count for haemoglobin and MCV
Blood film
Reticulocyte count - immature RBCs. High when there’s active production of RBCs to replace what’s lost e.g. in Haemolysis or blood loss
Ferritin (low iron deficiency)
B12 and folate
Bilirubin (raised in haemolysis)
Direct Coombs test (autoimmune haemolytic anaemia)
Haemoglobin electrophoresis (haemoglobinopathies)
What is anaphylaxis?
Anaphylaxis is a life-threatening medical emergency.
It is caused by a severe type 1 hypersensitivity reaction.
Immunoglobulin E (IgE) stimulates mast cells to rapidly release histamine and other pro-inflammatory chemicals. This is called mast cell degranulation.
This causes a rapid onset of symptoms, with airway, breathing and/or circulation compromise.
Presentation of anaphylaxis in children
Urticaria Itching Angio-oedema, with swelling around lips and eyes Abdominal pain Shortness of breath Wheeze Swelling of the larynx, causing stridor Tachycardia Lightheadedness Collapse
Mx of anaphylaxis in children
call for help - need paediatrician ABCDE approach a - secure airway b - oxygen, salbutamol if wheezing c - IV bolus of fluids d - lie flat for cerebral perfusion e - look for flushing, urticaria and angio-oedema
Definitive mx:
- IM adrenaline (repeat after 5 mins if needed)
- Antihistamines - chlorphenamine or cetirizine
- Steroids - IV hydrocortisone
Keep in for observation - think biphasic reaction
Do serum mast cell tryptase within 6 hours
Education and follow up for family
BLS for parents
Adrenalin auto-injector to take home
What is a biphasic reaction in anaphylaxis?
a second anaphylactic reaction after successful treatment of the first
What blood test in anaphylaxis to confirm diagnosis?
Anaphylaxis can be confirmed by measuring the serum mast cell tryptase within 6 hours of the event.
Tryptase is released during mast cell degranulation and stays in the blood for 6 hours before gradually disappearing.
Who gets an adrenalin auto injector?
all children and adolescents with anaphylactic reactions.
considered in children with generalised allergic reactions (without anaphylaxis) with certain risk factors:
- Asthma requiring inhaled steroids
- Poor access to medical treatment (e.g. rural locations)
- Adolescents, who are at higher risk
- Nut or insect sting allergies are higher risk
- Significant co-morbidities, such as cardiovascular disease
What is an acute exacerbation of asthma?
a rapid deterioration in the symptoms of asthma. This could be triggered by any of the typical asthma triggers, such as infection, exercise or cold weather.
Symptoms of acute asthma exacerbation
Progressively worsening SOB
Signs of respiratory distress
Fast respiratory rate (tachypnoea)
Expiratory wheeze on auscultation heard throughout the chest
The chest can sound “tight” on auscultation, with reduced air entry
A silent chest is an ominous sign.
How is an acute asthma attack graded for severity?
Moderate
Severe
Life threatening
What means an acute asthma attack is classified as moderate?
Peak flow >50% predicted
Normal speech
What means an acute asthma attack is classified as severe?
Peak flow 33-50% predicted
Saturations <92%
Unable to complete sentences in one breath
Signs of respiratory distress
Respiratory rate >40 in 1-5yo or >30 in over 5 yo
HR >140 in 1-5 yo or >125 in over 5 yo
What means an acute asthma attack is classified as life threatening?
Peak flow <33% predicted Saturations <92% Exhaustion and poor respiratory effort Hypotension Silent chest Cyanosis Altered consciousness/confusion
Mx of acute asthma attack
O2
Bronchodilators - salbutamol inhaled/neb, ipratropium inhaled/neb, magnesium sulphate IV, aminophylline IV
Steroids - oral prednisolone or IV hydrocortisone
ABx
Intubation and ICU
Monitor K+ when using high doses of salbutamol
When can you discharge a child with asthma after an acute exacerbation?
when they are having 6 puffs of salbutamol every 4 hours - prescribe a reducing regime of salbutamol for home
Discharge mx plan for children after acute asthma exacerbation
Reducing regime of salbutamol inhaler
Finish steroid course
Safety net
Asthma action plan
What is asthma?
a chronic inflammatory airway disease leading to variable airway obstruction.
1) The smooth muscle in the airways is hypersensitive.
2) The smooth muscle responds to stimuli by constricting and causing airflow obstruction.
3) This bronchoconstriction is reversible with bronchodilators such as inhaled salbutamol.
Symptoms of chronic asthma
Episodic symptoms with intermittent exacerbations
Diurnal variability, typically worse at night and early morning
Dry cough with wheeze and shortness of breath
Typical triggers
A history of other atopic conditions such as eczema, hayfever and food allergies
Family history of asthma or atopy
Bilateral widespread “polyphonic” wheeze heard by a healthcare professional
Symptoms improve with bronchodilators
Triggers for asthma
Dust (house dust mites) Animals Cold air Exercise Smoke Food allergens (e.g. peanuts, shellfish or eggs)
When are children diagnosed with asthma
Not diagnosed until at least 2-3 years old
Ix for asthma
Spirometry with reversibility testing (in children aged over 5 years)
Direct bronchial challenge test with histamine or methacholine
Fractional exhaled nitric oxide (FeNO)
Peak flow variability measured by keeping a diary of peak flow measurements several times a day for 2 to 4 weeks
Medical therapy for chronic asthma in children under 5 years old
- SABA - salbutamol
- low dose ICS / montelukast
- other option from 2
- refer to specialist
Medical therapy for chronic asthma in children aged 5-12 years
- SABA - salbutamol
- low dose ICS
- LABA - salmeterol
- increase ICS to medium dose. consider adding oral montelukast or oral theophylline
- increase ICS to high dose
- refer to specialist
Medical therapy for chronic asthma in children aged over 12 years
same as adults
- SABA - salbutamol
- low dose ICS
- LABA
- Increased ICS to medium dose. consider Adding oral montelukast, oral theophylline or LAMA (tiotropium)
- Increased ICS to high dose and combine additional treatments from step 4
- Oral steroids at lowest possible dose and refer to specialist
Use of inhaled corticosteroids in children
inhaled steroids can slightly reduce growth velocity and can cause a small reduction in final adult height of up to 1cm when used long term (for more than 12 months)
Is dose dependent
Poorly controlled asthma can lead to a more significant impact on growth and development.
What is eczema?
chronic atopic condition caused by defects in the normal continuity of the skin barrier, leading to inflammation in the skin
Risk factors for eczema
family hx
atopy
Symptoms of eczema
Presents in infancy
Dry red itchy sore patches of skin over flexor surfaces (inside elbows and knees) and one face/neck
Flares
Can range from mild to severe
Pathology of eczema
Defects in the skin barrier
Gaps in skin barrier allow for entrance of irritants, microbes and allergens that create an immune response = inflammation
Mx of eczema
Maintenance and flare management
Maintenance =
- Emollients
- Soap substitutes
- lifestyle - use emollients often, after washing and before bed. Avoid things that break down skin barrier e.g. hot baths, scratching or scrubbing skin. Don’t use soaps and body washes.
- avoid environmental triggers - changes in temp, dietary products, washing powders, cleaning products and emotional stress
Flares
- thicker emollients
- topical steroids
- wet wraps
- treat bacterial/viral infections
specialist treatments for severe eczema
- zinc impregnanted bandages
- topical tacrolimus
- phototherapy
- systemic immunosuppressants
- oral corticosteroids
- methotrexate
- azathioprine
Examples of thin creams used as emollients in eczema
E45 Dirpobase cream Oilatum cream Aveeno cream Cetraben cream Epaderm cream
Examples of thick greasy emollients used in severe eczema
50:50 ointment (50% liquid paraffin) Hydromol ointment Diprobase ointment Cetraben ointment Epaderm ointment
Name the steroids in the steroid ladder from weakest to most potent
(Hug Every Budding Dermatologist)
Mild: Hydrocortisone 0.5%, 1% and 2.5%
Moderate: Eumovate (clobetasone butyrate 0.05%)
Potent: Betnovate (betamethasone 0.1%)
Very potent: Dermovate (clobetasol propionate 0.05%)
Side effects of topical steroids
Thinning of the skin
Skin more prone to flares, bruising, tearing, stretch marks and telangiectasia
Most common organism to cause opportunistic bacterial infection in eczema
staphylococcus aureus (mx = flucloxacillin)
What is eczema herpeticum?
viral skin infection in patients with eczema caused by the herpes simplex virus (HSV) or varicella zoster virus (VZV). Patients can be very unwell.
Presentation of eczema herpeticum
Eczema + Widespread painful vesicular rash Vesicles contain pus Fever Lethargy Irritability Reduced oral intake Lymphadenopathy
Ix for eczema herpeticum
Viral swabs/clinical diagnosis
Mx for eczema herpeticum
Acyclovir (may need to be IV)
What is ADHD?
Attention deficit hyperactivity disorder (ADHD) is at the extreme end of “hyperactivity” and inability to concentrate (“attention deficit“).
It affects the person’s ability to carry out everyday tasks, develop normal skills and perform well in school.
Symptoms of ADHD
symptoms must be persistent, across various settings and negatively affecting the child
Very short attention span
Quickly moving from one activity to another
Quickly losing interest in a task and not being able to persist with challenging tasks
Constantly moving or fidgeting
Impulsive behaviour
Disruptive or rule breaking
mx of ADHD
- parent and child education
- Healthy diet and exercise
- 10 week watch and wait period
- medication (last resort and must be >5yo): central nervous system stimulants e.g. methylphenidate (Ritalin), lisdexamfetamine, dexamfetamine, atomoxetine
Diagnosis of ADHA
Persistent features - 6+ in children under 16yo and 5+ in children over 17 yo
Must be an element of developmental delay
INATTENTION features:
- Doesn’t follow through on instructions
- Reluctance to engage in mentally intense tasks
- Easily distracted
- finds it difficult to sustain tasks
- finds it difficult to organise tasks or activities
- often forgetful in daily activities
- often loses things necessary for tasks or activities
- often doesn’t seem to listen when spoken to directly
HYPERACTIVITY/IMPULSIVITY features:
- Unable to play quietly
- Talks excessively
- Doesn’t wait their turn easily
- Spontaneously leaves their seat
- Is often ‘on the go’
- Often interrupts or intrusive
- Will answer prematurely - before a question has been finished
- Will run and climb when its not appropriate
Side effects of methylphenidate
Abdominal pain
Nausea
Dyspepsia
Monitoring for methylphenidate
Weight and height every 6 months Baseline ECG (its cardio toxic)
What is autistic spectrum disorder?
Neuro-developmental disorder
the full range of people affected by a deficit in social interaction, communication and flexible behaviour.
The autistic spectrum has a significant range. On one end patients have normal intelligence and ability to function in everyday life but displaying difficulties with reading emotions and responding to others. This was previously known as Asperger syndrome. On the other end, patients can be severely affected and unable to function in normal environments.
Features of autistic spectrum disorder
Deficits in social interaction, communication and behaviour:
SOCIAL INTERACTION - Lack of eye contact Delay in smiling Avoids physical contact Unable to read non-verbal cues Difficulty establishing friendships Not displaying a desire to share attention (i.e. not playing with others)
COMMUNICATION -
Delay, absence or regression in language development
Lack of appropriate non-verbal communication such as smiling, eye contact, responding to others and sharing interest
Difficulty with imaginative or imitative behaviour
Repetitive use of words or phrases
BEHAVIOUR -
Greater interest in objects, numbers or patterns than people
Stereotypical repetitive movements. There may be self-stimulating movements that are used to comfort themselves, such as hand-flapping or rocking.
Intensive and deep interests that are persistent and rigid
Repetitive behaviour and fixed routines
Anxiety and distress with experiences outside their normal routine
Extremely restricted food preferences
diagnosis of autistic spectrum disorder
Should be made by a specialist
Diagnosis can be made before the age of 3
Detailed history of the child’s behaviour and communication
Assessment in school
Mx of autistic spectrum disorder
MDT:
Child psychology and child and adolescent psychiatry (CAMHS)
Speech and language specialists
Dietician
Paediatrician
Social workers
Specially trained educators and special school environments
Charities such as the national autistic society
Early educational and behavioural interventions
SSRIs - for repetitive stereotyped behaviour, anxiety and aggression
Antipsychotic drugs - for aggression and self injury
Methylphenidate - for ADHD
family support and counselling
Conditions associated with autism spectrum disorder
ADHD
Epilepsy
Higher head circumference to brain volume ratio
What is biliary atresia?
a congenital condition where a section of the bile duct is either narrowed or absent. This results in cholestasis (bile isn’t transported from the liver to bowel).
Conjugated bilirubin is usually excreted in the bile therefore biliary atresia prevents the excretion of conjugated bilirubin
Presentation of biliary atresia
Significant jaundice shortly after birth (high conjugated bilirubin levels)
Persistent jaundice (>14 days in term babies and >21 days in premature babies)
Dark urine and pale stools
Apetite and growth disturbance
Hepatomegaly & splenomegaly
Ix for biliary atresia
Conjugated and unconjugated bilirubin - high proportion of conjugated bilirubin
US of biliary tree and liver
Mx of biliary atresia
Surgery = kasai portoenterostomy
attach section of small intestine to opening of liver where bile duct normally attaches
causes of biliary atresia
pathogenesis is unclear, is a congenital illness contributing factors = - infection - congenital malformations - retained toxins within bile
Who gets biliary atresia
More common in females
Ssen in neonates
Complications of Kasai portoenterostomy for biliary atresia
Unsuccessful anastomosis
Progressive liver disease
Cirrhosis with eventual hepatocellular carcinoma
Prognosis of biliary atresia
- Prognosis good if surgery successful
- Unsuccessful surgery = liver transplant in first 2 years of life
Paediatric BLS guidelines for arrest
Unresponsive child? Call for help Open airway If not breathing: - 5 rescue breaths - Check for signs of circulation - in infants use brachial or femoral pulse and in children use femoral pulse - Chest compressions - 15 compressions: 2 breaths - Attach ECG monitor/defibrillator
Rules for chest compressions in children
Chest compressions should be 100-120 /min
Depth of compression = 4cm in infant and 5cm in child (depresses the lower half of the sternum by at least 1/3rd)
In children compress the lower half of the sternum
In infants use a two thumb encircling technique for chest compression
What is the APGAR score?
Measured out of 10
Used to assess the health of a newborn baby
0-3 low score, 4-6 moderate low, 7-10 normal baby
1) Appearance - 0 blue/pale, 1 blue extremities and 2 pink
2) Pulse - 0 absent, 1 <100 and 2 >100
3) Grimace (response to stimulation) - 0 no response, 1 little response, 2 good response
4) Activity (muscle tone) - 0 floppy, 1 flexed arms/legs, 2 active
5) Respiration - 0 absent, 1 slow/irregular, 2 strong/crying
What are the 3 scenarios in which IV fluids are prescribed for children?
1) Resuscitation fluids - if the child is shocked/haemodynamically compromised
2) Replacement fluids - if the child is dehydrated and is in a fluid deficit e.g. from vomiting/diarrhoea/DKA/burns
3) Maintenance fluids - if there’s no dehydration but the child can’t meet their fluid requirements enterally
What monitoring should be done for children receiving IV fluids?
Monitor U&Es and plasma glucose every 24 hours at least
Signs of dehydration in children
- Appears unwell
- Altered responsiveness
- Sunken eyes
- Tachycardia
- Tachypnoea
- Reduced skin turgor
- Dry mucous membranes
- Decreased urine output
How to calculate routine maintenance fluids for children >28 days old
100ml/kg/day for first 10kg of weight
50ml/kg/day for next 10kg of weight
20ml/kg/day for weight over 20kg
Name of formula used to calculate maintenance fluids for children >28 days old
Holliday-Segar formula
Choice of maintenance fluids for children >28 days old
Isotonic crystalloids (0.9% NaCl) + 5% glucose
How to calculate maintenance fluids for term neonates (<28 days old)
Birth to day 1 = 50-60ml/kg/day
Day 2 = 70-80ml/kg/day
Day 3 = 80-100 ml/kg/day
Day 4 = 100-120 ml/kg/day
Day 5-28 = 120-150 ml/kg/day
How to calculate fluid deficit
Calculate the percentage dehydration:
- 5% dehydrated if signs of dehydration but no red flags
- 10% dehydrated if signs of shock
- Can use formula to calculate it accurately: (well weight - current weight) / well weight x100
Fluid deficit = % dehydration x weight (kg) x 10
How to calculate replacement fluids
Maintenance fluids + fluid deficit
Resuscitation fluid calculation for children AND WHEN TO USE A SMALLER BOLUS
0.9% NaCl 10ml/kg bolus over <10 mins
Use smaller bolus if:
- Neonatal period
- DKA
- Septic chock
- Trauma
- Cardiac pathology
What are the Fraser Guidelines?
Used to assess if a patient who is younger than 16 is competent to consent to treatment, for example contraception
Need to fulfil following:
- Understand the professionals advice
- Cannot be persuaded to inform their parents or allow the professional to contact the parents on their behalf
- They are likely to start or continue having sexual intercourse with or without contraceptives
- Unless they receive contraceptives, their physical or mental health is likely to suffer
- The young persons best interests requires them to receive contraceptive advice or tx without parental consent
What are the types of constipation seen in children?
Idiopathic/functional constipation = no underlying cause
Secondary constipation
causes of secondary constipation in children?
Hirschsprungs Cystic fibrosis Hypothyroidism Spinal cord lesions Sexual abuse Intestinal obstruction Anal stenosis Cows milk intolerance
Symptoms of constipation
Breast fed babies can open their bowels as little as once per week
Less than 3 stools a week
Hard stools that are difficult to pass
Rabbit dropping stools
Straining and painful passages of stools
Abdominal pain
Holding an abnormal posture, referred to as retentive posturing
Rectal bleeding associated with hard stools
Faecal impaction causing overflow soiling, with incontinence of particularly loose smelly stools
Hard stools may be palpable in abdomen
Loss of the sensation of the need to open the bowels
what is encopresis?
Faecal incontinence
Not pathological until 4 yo
Sign of chronic constipation - rectum becomes stretched and loses sensation
Causes of encopresis
Chronic constipation Spina bifida Hirschprung’s disease Cerebral palsy Learning disability Psychosocial stress Abuse
Lifestyle factors that contribute to constipation
Habitually not opening the bowels Low fibre diet Poor fluid intake and dehydration Sedentary lifestyle Psychosocial problems such as a difficult home or school environment (always keep safeguarding in mind)
Red flags in constipation hx that should prompt further ix
Not passing meconium within 48 hours of birth (cystic fibrosis or Hirschsprung’s disease)
Neurological signs or symptoms, particularly in the lower limbs (cerebral palsy or spinal cord lesion)
Vomiting (intestinal obstruction or Hirschsprung’s disease)
Ribbon stool (anal stenosis)
Abnormal anus (anal stenosis, inflammatory bowel disease or sexual abuse)
Abnormal lower back or buttocks (spina bifida, spinal cord lesion or sacral agenesis)
Failure to thrive (coeliac disease, hypothyroidism or safeguarding)
Acute severe abdominal pain and bloating (obstruction or intussusception)
mx of idiopathic constipation
correct reversible factors
high fibre diet
good hydration
start laxatives - movicol
faecal impaction = disimpaction regime with high dose of laxatives at first
praise after visiting toilet, schedule toilet visits, bowel diary and star charts
What is hirschsprung’s disease
a congenital condition where nerve cells of the myenteric plexus (Auerbach’s plexus) are absent in the distant bowel and rectum.
Auerbach’s plexus is responsible for stimulating peristalsis of the large bowel -without it the bowel loses its motility and stops being able to pass food along its length
Pathophysiology of Hirschsprung’s disease
absence of parasympathetic ganglion cells in the Auerbach’s plexus at the distal colon and rectum
What is it called when the entire colon is affected by Hirschsprung’s disease?
Total colonic aganglionosis
The aganglionic section of the colon doesn’t relax = it becomes constricted - loss of movement of faeces and obstruction of bowel
Risk factors for hirschsprungs disease
Family hx downs syndrome Neurofibromatosis Waardenburg syndrome - pale blue eyes, hearing loss, and patches of white skin and hair Multiple endocrine neoplasia type II
Presentation of hirschsprungs disease
acute intestinal obstruction after birth delay in passing meconium (>24 hrs) chronic constipation since birth abdominal pain and distention vomiting poor weight gain and failure to thrive
What is an important complication of hirschsprungs disease?
Hirschsprung associated enterocolitis
What is Hirschsprung associated enterocolitis?
Inflammation and obstruction of the intestine occurring in around 20% of neonates with hirschsprungs disease
presentation of Hirschsprung associated enterocolitis
2-4 weeks old fever abdominal distention diarrhoea (often bloody) features of sepsis can lead to toxic megacolon and perforation of the bowel
tx for Hirschsprung associated enterocolitis
abx
fluid resuscitation
decompression of the obstructed bowel
ix for hirschsprungs disease
abdominal xray - look for intestinal obstruction and HAEC
Rectal biopsy - for diagnosis. Absence of ganglionic cells on histology
Mx of hirschsprungs disease
surgical removal of ganglionic section of bowel
What is croup?
acute infective respiratory disease affecting young children.
URTI causing oedema in the larynx = stridor
What age group is croup most common in?
6 months to 2 years (can be in older children)
Causes of croup
PARAINFLUENZA VIRUS
influenza
adenovirus
respiratory syncytial virus (RSV)
diphtheria - leads to epiglottitis
Presentation of croup
Increased work of breathing “Barking” cough, occurring in clusters of coughing episodes - worse at night Hoarse voice Stridor Low grade fever
Mx of croup
Oral dexamethasone - single dose for all children regardless of severity (can give prednisolone alternatively) Oxygen Nebulised budesonide Nebulised adrenalin Intubation and ventilation
Very responsive to steroids
children can be cared for at home
When is croup most common
more common in autumn
How can croup be classified based on severity?
Mild
Moderate
Severe
What is mild croup?
Occasional barking cough
No audible stridor at rest
No or mild suprasternal +/- intercostal recessions
Child is happy and eating/playing
What is moderate croup?
Frequent barking cough Easily audible stridor at rest suprasternal and sternal wall retraction at rest no or little distress/agitation child can be placated
what is severe croup?
frequent barking cough prominent inspiratory stridor at rest marked sternal wall retractions significant distress and agitation or lethargy tachycardia
When should you admit a child with croup?
if its moderate or severe or: - <6 months old - known upper airway abnormalities - uncertain about diagnosis
ix for croup
clinical diagnosis
CXR - PA view shows steeple sign (subglottilc narrowing) and lateral view shows thumb sign (epiglottis swelling)
signs of croup on CXR
a posterior-anterior view will show subglottic narrowing, commonly called the ‘steeple sign’
a lateral view in acute epiglottis will show swelling of the epiglottis - the ‘thumb sign’
What is DKA?
Diabetic ketoacidosis
Medical emergency
Common way that children with new diagnosis of T1DM present
There is extreme hyperglycaemic ketosis, resulting in metabolic acidosis
Pathogenesis of DKA
1) ketoacidosis - ketogenesis occurs (fatty acids converted to ketones when there’s insufficient glucose & glycogen stores). Kidneys initially produce bicarb to buffer ketone acids, then can’t compensate = ketoacidosis
2) Dehydration - hyperglycaemia overwhelms the kidneys & glucose is filtered into the urine. Glucose draws water out with it = osmotic diuresis = polyuria = dehydration = polydipsia
3) Potassium imbalance = insulin drives K into cells = hyperkalaemia. Total body K is low as no K is stored in cells. When tx with insulin starts = severe hypokalaemia as K is drawn into cells = arrhythmias
Serious complication of DKA in children
cerebral oedema.
Dehydration & hyperglycaemia = water moves from intracellular to extracellular space in the brain so cells are dehydrated and shrink.
When dehydration & hyperglycaemia is corrected rapidly = rapid shift of water intracellularly in the brain = brain cells swell & brain becomes oedematous
Monitor GCS in children with DKA
Signs to monitor for cerebral oedema in DKA
headaches
altered behaviour
bradycardia
changes to consciousness
mx of cerebral oedema in DKA
slow IV fluids
IV mannitol
IV hypertonic saline
Presentation of DKA
Polyuria Polydipsia Nausea and vomiting Weight loss Acetone smell to their breath Dehydration and subsequent hypotension Altered consciousness Symptoms of an underlying trigger (i.e. sepsis)
Diagnosis of DKA
Hyperglycaemia = BM >11 Ketosis = blood ketones >3 Acidosis = ph <7.3
DKA management in children
- Correct dehydration over 48 hrs
- Fixed rate insulin infusion
- Avoid fluid boluses
- Treat underlying triggers
- Prevent hypoglycaemia with IV dextrose once BM <14
- K to IV fluids and monitor serum K
- Monitor for signs of cerebral oedema
- Monitor glucose, ketones and pH
What is T1DM?
a disease where the pancreas stops being able to produce insulin. What causes the pancreas to stop producing insulin is unclear.
When the pancreas is not producing insulin, the cells of the body cannot take glucose from the blood and use it for fuel. The cells cannot use glucose, so the level of glucose in the blood keeps rising, causing hyperglycaemia.
What is the normal range for BMs
4.4 to 6.1
Presentation of T1DM
25-50% of new T1DM children present in DKA
Polyuria
Polydipsia
Weight loss
Secondary enuresis
Recurrent infections
Ix for new presentation of T1DM
FBC U&E Lab glucose Blood cultures HbA1C TFTs Thyroid peroxidase antibodies (TPO for autoimmune thyroid disease) anti-TTG (coeliacs) Insulin antibodies, anti-GAD antibodies and islet cell antibodies (antibodies associated with T1DM)
Mx of T1DM in children
- Patient and family education
- Subcut insulin regime
- Monitor dietary carbohydrate intake
- Monitor BMs - waking, at each meal and before bed
- Monitoring and mx for complications
short term complications of T1DM
Hypoglycaemia
Hyperglycaemia and DKA
Causes of hypoglycaemia in T1DM
Too much insulin Not enough carbs Malabsorption Diarrhoea vomiting sepsis
Symptoms of hypoglycaemia in T1DM
Hunger tremor sweating irritability dizziness pallor reduced consciousness coma death
mx of hypoglycaemia in T1DM
rapid acting glucose - lucozade
slower acting carb - biscuit or toast
IV 10% dextrose
IM glucagon
Long term complications of T1DM
Macrovascular complications:
- CAD
- Stroke
- HTN
Microvascular complications
- Peripheral neuropathy
- Retinopathy
- Glomerulosclerosis
Infection related complications
- UTI
- Pneumonia
- Skin and soft tissue infections particularly in feet
- Cadidiasis
Monitoring of T1DM
HbA1C
Capillary blood glucose
Flash glucose monitoring (5 minute lag behind BM)
What is disseminated intravascular coagulation?
an acquired syndrome characterised by activation of coagulation pathways, resulting in formation of intravascular thrombi and depletion of platelets and coagulation factors
Tendency for both bleeding and thrombosis simultaneously
Triggers for DIC
- Infection (sepsis)
- Malignancy
- Severe burns
- Trauma
- Shock
- Obstetric emergencies
- Acute haemolytic transfusion reaction
Pathophysiology of DIC
Activation of the coagulation cascade intravascularly
Causes microvascular thrombosis
Small thrombi can lead to multi-organ failure
At the same time, widespread activation of coagulation leads to reduction in the concentration of circulating coagulation factors = consumptive coagulopathy = risk of bleeding increases = thrombocytopenia
Simultaneous bleeding and thrombosis
Clinical features of DIC
- Evidence of precipitating factor
- bleeding from unusual sites: ears, nose, GI, GU, Respiratory, venipuncture site (bleeding from 3 unrelated sites = highly suggestive)
- Widespread unexpected bruising
- new confusion or disorientation
- petechiae or purpura
- Lived reticularis - mottled lace like patterning of the skin
- Purpura fulminans: widespread skin necrosis
- Localised infarction and gangrene (e.g. of fingers)
- Oliguria, hypotension or tachycardia
Ix for DIC
ISTH scoring system
- platelet count low
- d dimer. raised
- PTT prolonged
- fibrinogen levels decreased
mx of DIC
treat underlying cause
platelet transfusion if bleeding
concentrated solutions of clotting factors
cryoprecipitate or fibrinogen concentrate for low fibrinogen
If thrombosis is prominent factor - LMWH - unfractionated heparin has shorter 1/2 life so good for this
complications of DIC
multi organ failure life threatening haemorrhage cardiac tamponade (becks triad) Haemothorax Intracranial haemorrhage Gangrene and loss of digits
What is the genetic abnormality in downs syndrome?
3 copies of chromosome 21 = trisomy 21
What dysmorphic features are seen in downs syndrome?
Hypotonia (reduced muscle tone) Brachycephaly (small head with a flat back) Short neck Short stature Flattened face and nose Prominent epicanthic folds Upward sloping palpebral fissures (gap between upper and lower eyelid) Single palmar crease
complications of downs syndrome
Learning disability
Recurrent otitis media
Deafness. Eustachian tube abnormalities lead to glue ear and conductive hearing loss.
Visual problems such myopia, strabismus and cataracts
Hypothyroidism occurs in 10 – 20%
Cardiac defects affect 1 in 3, particularly ASD, VSD, patent ductus arteriosus and tetralogy of Fallot
Atlantoaxial instability
Leukaemia is more common in children with Down’s
Dementia is more common in adults with Down’s
Duodenal atresia
sub fertility
When is antenatal screening done for downs syndrome?
offered to all women - they can refuse
combined test is done between 11 and 14 weeks
triple test/quadruple test (just maternal blood tests) done between 14 and 20 weeks
What is involved in the combined screening test for downs syndrome?
USS - measure nuchal translucency (>6mm = downs)
Maternal blood tests - beta-HCG increased and pregnancy associated plasma protein A (PAPPA) is low
+ mothers age
Done at 11-14 weeks
What is involved in the triple test for downs syndrome screening?
b-HCG (increased)
Alpha-fetoprotein (AFP) (low)
Serum estriol (low)
Done at 14-20 weeks
What is involved in the quadruple test for downs syndrome screening?
b-HCG (increased)
Alpha-fetoprotein (AFP) (low)
Serum estriol (low)
inhibin A (high)
Done at 14-20 weeks
When are women offered antenatal testing for downs syndrome?
If the risk of Downs syndrome is greater than 1 in 150, calculated by screening tests
How is antenatal testing for downs syndrome done?
Chorionic villus sampling - US guided biopsy of placental tissue (before 15 weeks)
Amniocentesis - US guided aspiration of amniotic fluid using a needle (done later in pregnancy)
non-invasive prenatal testing (NIPT) - maternal blood test to detect fetal DNA
Risks of amniocentesis
miscarriage - 1 in 200 women
infection in uterus
cramping, spotting or leaking amniotic fluid
rh problems
mx of downs syndrome
MDT management
Regular thyroid checks (2 yearly)
Echocardiogram to diagnose cardiac defects
Regular audiometry for hearing impairment
Regular eye checks
prognosis of downs syndrome
Prognosis varies depending on the severity of the associate complications. The average life expectancy is 60 years.
risks of chorionic villus sampling
cramping, bleeding or leaking of amniotic fluid
infection
miscarriage
preterm labour
limb defects in infants - if done before 9 weeks
PAPP-A in downs compared to Edwards and patau
PAPP-A is lower in Edwards and patau
PAPP-A = pregnancy associated plasma protein A
Risk factors for eating disorders
Associated with - personality disorders, OCD and anxiety
Female
Genetic component
What is anorexia nervosa?
the person feel they are overweight despite evidence of normal or low body weight. It involves obsessively restricting calorie intake with the intention of losing weight. Often the person exercises excessively and may use diet pills or laxatives to restrict absorption of food.
Symptoms of anorexia nervosa
Excessive weight loss Amenorrhoea Lanugo hair is fine, soft hair across most of the body Hypokalaemia Hypotension Hypothermia Changes in mood, anxiety and depression Solitude
Cardiac complications associated with anorexia nervosa
Arrhythmias
Cardiac atrophy
Sudden cardiac death
What is bulimia nervosa?
Unlike with anorexia, people with bulimia often have a normal body weight. Their body weight tends to fluctuate. The condition involves binge eating, followed by “purging” by inducing vomiting or taking laxatives to prevent the calories being absorbed.
Symptoms of bulimia nervosa
Alkalosis, due to vomiting hydrochloric acid from the stomach
Hypokalaemia
Erosion of teeth
Swollen salivary glands
Mouth ulcers
Gastro-oesophageal reflux and irritation
Calluses on the knuckles where they have been scraped across the teeth = Russell’s sign.
What is binge eating disorder
Binge eating disorder is characterised by episodes where the person excessively overeats, often as an expression of underlying psychological distress. This is not a restrictive condition like anorexia or bulimia, and patients are likely to be overweight.
Symptoms of binge eating disorder
A planned binge involving “binge foods” Eating very quickly Unrelated to whether they are hungry or not Becoming uncomfortably full Eating in a “dazed state”
Mx of eating disorders
Self help resources Counselling CBT Admission in severe cases for observed refeeding and monitoring of refeeding syndrome SSRI
What are the 3 electrolyte disturbances seen in refeeding syndrome?
Hypomagnesaemia
Hypokalaemia
Hypophosphataemia
What is refeeding syndrome?
occurs in people that have been in a severe nutritional deficit for an extended period, when they start to eat again.
who is at risk of refeeding syndrome?
BMI <20
Little to eat for past 5 days
Long period of malnutrition
What are the complications of refeeding syndrome?
Cardiac arrhythmias
HF
Fluid overload
Pathology behind refeeding syndrome
Metabolism in cells/organs slows dramatically while malnourished
When food is introduced again, cells start to process glucose, protein and fats = uses up magnesium, potassium and phosphorus
Mx for refeeding syndrome
Slowly reintroduce food with restricted calories
Monitor magnesium, potassium and phosphate
Monitor glucose
Fluid balance monitoring
ECG monitoring
Supplementation with electrolytes, vitamins (especially B12 and thiamine)
what is epiglottitis?
Epiglottitis is inflammation and swelling of the epiglottis
haemophilus influenza type B
Can completely block airway in hours = life threatening emergency
who should you suspect epiglottitis in?
children who haven’t had their vaccines
presentation of epiglottitis
Patient presenting with a sore throat and stridor Drooling Tripod position, sat forward with a hand on each knee High fever Difficulty or painful swallowing Muffled voice Scared and quiet child Septic and unwell appearance
Ix for epiglottitis
lateral xray neck = thumb print sign
don’t do if patient is acutely unwell
mx for epiglottitis
don't distress the child get senior paediatrician and anaesthetist secure airway if necessary IV ceftriaxone Dexamethasone
common complication of epiglottitis
epiglottic abscess
Description of tonic clonic seizure
LOC tonic (muscle tensing) movements clonic (muscle jerking) movements Typically the tonic phase comes before the clonic phase. tongue biting incontinence groaning irregular breathing Post ictal period
mx of tonic clonic seizures in children
1st = sodium valproate 2nd = lamotrigine or carbamazepine
description of focal seizures
start in temporal lobe
affects hearing speech memory and emotions
present with:
- hallucinations
- memory flashbacks
- deja vu
- strange behaviours
mx of focal seizures in children
(reverse of mx for tonic clonic seizures)
1st = carbamazepine or lamotrigine
2nd = sodium valproate or levetiracetam
description of absence seizures
typical in children
blank, stare into space then abruptly returns to normal
unaware during seizure
10-20 seconds
most patient grow out of absence seizures
mx of absence seizures
1st = sodium valproate or ethosuximide
description of atonic seizures
drop attacks
brief lapse in muscle tone
3 minutes in length
begin in childhood
what syndrome is associated with atonic seizures?
Lennox-Gastaut syndrome.
mx for atonic seizures
1st = sodium valproate 2nd = lamotrigine
description of myoclonic seizures
sudden brief muscle contractions
sudden jump/shock like seizures
remains awake
what syndrome is associated with myoclonic seizures?
juvenile myoclonic epilepsy (Janz syndrome)
mx of myoclonic seizures
1st = sodium valproate 2nd = lamotrigine, levetiracetam or topiramate
what are infantile spasms also known as?
West syndrome
What is west syndrome/infantile spasms?
starts at 6 months old
clusters of full body spasms
- Flexion of head, trunk, limbs → extension of arms (Salaam attack); last 1-2 secs, repeat up to 50 times
- Progressive mental handicap
- EEG: hypsarrhythmia
what is the prognosis for west syndrome?
1/3 die by 25 yo
1/3 seizure free
mx for west syndrome/infantile spasms?
prednisolone
vigabatrin
What are febrile convulsions?
Febrile convulsions are seizures that occur in children whilst they have a fever.
They are not caused by epilepsy or other underlying neurological pathology (such as meningitis or tumours).
Occur between 6 months - 5 yo
Ix for childhood epilepsy
EEG after 2nd tonic clonic seizure
MRI brain if under 2 yo, focal seizures or no response to 1st line anti epileptic
ECG
Blood electrolytes
Blood glucose
Blood cultures, urine cultures or lumbar puncture
advice for family for child with epilepsy
showers instead of baths
cautious when swimming
cautious with heights
cautious with traffic
older teenagers - avoid alcohol
when is sodium valproate used and what are the side effects
1st line for most forms of epilepsy apart from focal seizures
Teratogenic, so patients need careful advice about contraception
Liver damage and hepatitis
Hair loss
Tremor
When is carbamazepine used and what are the side effects?
1st line for focal seizures
Agranulocytosis
Aplastic anaemia
Induces the P450 system so there are many drug interactions
side effects of phenytoin
Folate and vitamin D deficiency Megaloblastic anaemia (folate deficiency) Osteomalacia (vitamin D deficiency)
side effects of ethosuximide
Night terrors
Rashes
Side effects of lamotrigine
Stevens-Johnson syndrome or DRESS syndrome. These are life threatening skin rashes.
Leukopenia
what is status epilepticus?
a seizure lasting more than 5 minutes or 2 or more seizures without regaining consciousness in the interim.
mx of status epilepticus in hospital
ABCDE
Secure the airway
Give high-concentration oxygen
Assess cardiac and respiratory function
Check blood glucose levels
Gain intravenous access (insert a cannula)
IV lorazepam, repeated after 10 minutes if the seizure continues
IV phenobarbital/phenytoin infusion
mx of status epilepticus in the community
Buccal midazolam
Rectal diazepam
what is considered normal reflux in children?
normal for a baby to reflux feeds, and provided there is normal growth and the baby is otherwise well
90% of infants stop having reflux by one year old
symptoms of problematic reflux in infants
Chronic cough Hoarse cry Distress, crying or unsettled after feeding Reluctance to feed Pneumonia Poor weight gain
causes of vomiting in babies
Overfeeding Gastro-oesophageal reflux Pyloric stenosis (projective vomiting) Gastritis or gastroenteritis Appendicitis Infections such as UTI, tonsillitis or meningitis Intestinal obstruction Bulimia
Red flags in vomiting children
Can’t keep down any feed = pyloric stenosis/intestinal obstruction
Projectile vomiting = pyloric stenosis/intestinal obstruction
Bile stained vomit = intestinal obstruction
Haematemesis / melaena = peptic ulcer / oesophagitis / varices
Abdominal distention = intestinal obstruction
Reduced LOC / bulging fontanelle / near signs = meningitis / raised ICP
Respiratory symptoms = aspiration / infection
Blood in stools = gastroenteritis / cows milk protein allergy
Signs of infection
Rash / angioedema / allergy = cows milk protein allergy
Apnoeas
mx of simple reflux in infants
Small, frequent meals
Burping regularly to help milk settle
Not over-feeding
Keep the baby upright after feeding (i.e. not lying flat)
mx of more severe reflux in infants
Gaviscon mixed with feeds
Thickened milk or formula (specific anti-reflux formulas are available)
Ranitidine
Omeprazole where ranitidine is inadequate
barium meal and endoscopy to ix
surgical fundoplication
what is sandifer’s syndrome?
rare condition
brief episodes of abnormal movements associated with GORD in infants.
The infants are usually neurologically normal.
The key features are:
1) Torticollis: forceful contraction of the neck muscles causing twisting of the neck
2) Dystonia: abnormal muscle contractions causing twisting movements, arching of the back or unusual postures
Resolves as reflux is treated
why should children with sandifer’s syndrome be referred to a paediatrician?
to rule out infantile spasms (west syndrome) and seizures
What is Henoch-Schönlein purpura
an IgA vasculitis that presents with a purpuric rash affecting the lower limbs and buttocks in children.
what is the pathology behind HSP?
Triggered by an URTI or gastroenteritis
leads to IgA deposits in blood vessels in affected organs
organs involved = skin, kidneys, GI tract
who gets HSP?
children under 10 years old
what are the 4 classic features of HSP?
Purpura (red purple rash, palpable under the skin, start on legs and spreads to buttocks)
Joint pain (knees and ankles)
Abdominal pain
Renal involvement
complications of HSP
purpura can lead to skin ulceration and necrosis
abdominal pain can lead lead GI haemorrhage, intussusception & bowel infarction
IgA nephritis
what happens to the kidneys in HSP and what are the symptoms/signs?
IgA nephritis
Macroscopic/microscopic haematuria & proteinuria
Nephrotic syndrome = haematuria, proteinuria and oedema
Ix for HSP
Need to exclude meningococcal septicaemia and leukaemia
FBC & blood film Renal profile Serum albumin (nephrotic syndrome) CRP Blood cultures urine dipstick Urine protein:creatinine ratio BP
Differentials for HSP
meningococcal septicaemia
leukaemia
Idiopathic thrombocytopenic purpura
haemolytic uraemic syndrome
criteria for diagnosing HSP
Palpable purpura + one of:
- diffuse abdo pain
- arthritis / arthralgia
- IgA deposits on histology (biopsy)
- proteinuria / haematuria
mx for HSP
simple analgesia rest hydration steroids monitor with urine dipstick and BP
prognosis for HSP
abdo pain settles in days
no kidney involvement = recover in 4-6 weeks
1/3 have disease recurrence in 6 months
small chance of developing end stage renal failure
what is congenital hypothyroidism?
the child is born with an underactive thyroid gland
causes of congenital hypothyroidism
dysgenesis = underdeveloped thyroid gland
dyshormonogenesis = a fully developed thyroid gland that doesn’t produce enough hormone
how is congenital hypothyroidism diagnosed?
newborn blood spot screening test
if congenital hypothyroidism isn’t detected at birth, how do children present?
Prolonged neonatal jaundice Poor feeding Constipation Increased sleeping Reduced activity Slow growth and development
cause of acquired hypothyroidism
autoimmune thyroiditis (Hashimoto’s thyroiditis)
What antibodies are associated with Hashimoto’s thyroiditis?
antithyroid peroxidase (anti-TPO) antibodies antithyroglobulin antibodies.
What conditions are associated with Hashimoto’s thyroiditis?
T1DM
Coeliac disease
symptoms of Hashimoto’s thyroiditis in children
Fatigue and low energy Poor growth Weight gain Poor school performance Constipation Dry skin and hair loss
Ix for children with hypothyroidism
TFTs - TSH, T3 and T4
thyroid US
Thyroid antibodies - anti-TPO and antithyroglobulin antibodies
Tx for hypothyroidism
Levothyroxine
What is juvenile idiopathic arthritis?
autoimmune inflammation occurs in the joints.
diagnosed where there is arthritis without any other cause, lasting more than 6 weeks in a patient under the age of 16.
What are the subtypes of JIA?
Systemic JIA Polyarticular JIA Oligoarticular JIA Enthesitis related arthritis Juvenile psoriatic arthritis
What is systemic JIA also called?
Still’s disease
Symptoms of systemic JIA
Subtle salmon-pink rash High swinging fevers Enlarged lymph nodes Weight loss Joint inflammation and pain Splenomegaly Muscle pain Pleuritis and pericarditis
Ix for systemic JIA
Negative ANA and RF
raised CRP, ESR, platelets and ferritin
Differentials for fevers in children that last more than 5 days
systemic JIA (still’s disease)
Kawasaki disease
rheumatic fever
Leukaemia
Key complication of systemic JIA (stills disease)
Macrophage activation syndrome (MAS) = severe activation of immune system with a massive inflammatory response
symptoms of macrophage activation syndrome (MAS) and key finding on Ix
Caused by systemic JIA Unwell child DIC Anaemia Thrombocytopenia. Bleeding Non blanching rash
LOW ESR
symptoms of polyarticular JIA
inflammatory arthritis of 5+ joints, symmetrical, small joints of hands & feet + large joints
Mild fever
Anaemia
Reduced growth
What is oligoarticular JIA
4 joints or less
Larger joint involvement - knee/ankle
Who gets oligoarticular JIA?
Girl <6 yo
what is a key association with oligoarticular JIA
Anterior uveitis = refer to opthalmologist
ix for oligoarticular JIA
Normal/mildly elevated inflammatory markers
ANA often positive
RF usually negative
what is enthesitis related arthritis?
paediatric version of seronegative spondyloarthropathy
inflammatory arthritis of joints and enthesitis
who gets enthesitis related arthritis?
males >6 yo
Ix for enthesitis related arthritis
MRI scan - enthesitis
HLA-B27 gene
Conditions associated with enthesitis related arthritis
Psoriasis
IBD
Anterior uveitis - refer to ophthalmologist for screening even if asymptomatic
What is juvenile psoriatic arthritis?
seronegative inflammatory arthritis associated with psoriasis
symmetrical polyarthritis affecting the small joints similar to rheumatoid, or an asymmetrical arthritis affecting the large joints in the lower limb.
signs of juvenile psoriatic arthritis
Plaques of psoriasis on the skin
Pitting of the nails (nail pitting)
Onycholysis, separation of the nail from the nail bed
Dactylitis, inflammation of the full finger
Enthesitis, inflammation of the entheses, which are the points of insertion of tendons into bone
Mx of JIA
NSAIDs, such as ibuprofen
Steroids, either oral, intramuscular or intra-artricular in oligoarthritis
Disease modifying anti-rheumatic drugs (DMARDs), such as methotrexate, sulfasalazine and leflunomide
Biologic therapy, such as the tumour necrosis factor inhibitors etanercept, infliximab and adalimumab
what is impetigo
superficial bacterial skin infection, usually caused by the staphylococcus aureus bacteria.
A “golden crust” is characteristic of a staphylococcus skin infection
Causes of impetigo
staph aureus
streptococcus pyogenes
advice for children with impetigo
contagious = keep off school until lesions have healed or they’ve been on abx for 48 hrs
don’t scratch lesion
hand hygiene and don’t share towels
classification of impetigo
non-bullous
bullous
what is non-bullous impetigo
typically occurs around the nose or mouth.
The exudate from the lesions dries to form a “golden crust”.
They are unsightly but do not usually cause systemic symptoms or make the person unwell.
mx for non-bulbous impetigo
1st line = antiseptic cream - hydrogen peroxide 1% cream
2nd line = topical fusidic acid
3rd line = oral flucloxacillin
what is bullous impetigo?
is always caused by the staphylococcus aureus bacteria
bacteria can produce epidermolytic toxins that break down the proteins that hold skin cells together.
This causes 1 – 2 cm fluid filled vesicles to form on the skin.
These vesicles grow in size and then burst, forming a “golden crust”.
Eventually they heal without scarring. These lesions can be painful and itchy
What is the name of the condition when bullous impetigo lesions become widespread?
Staphylococcus scalded skin syndrome
mx for bullous impetigo
flucloxacillin - oral or IV
complications of impetigo
Cellulitis if the infection gets deeper in the skin Sepsis Scarring Post streptococcal glomerulonephritis Staphylococcus scalded skin syndrome Scarlet fever
causes of intestinal obstruction in children
Meconium ileus Hirschsprung’s disease Oesophageal atresia Duodenal atresia Intussusception Imperforate anus Malrotation of the intestines with a volvulus Strangulated hernia
presentation of intestinal obstruction in children
persistent bilious vomiting abdo pain and distention failure to pass stools/wind high pitched tinkling bowel sounds in early obstruction absent bowel sounds in late obstruction
diagnosis of intestinal obstruction
abdo xray = dilated loops of bowel proximal to lesion and collapsed bowel distal to obstruction
mx of intestinal obstruction
NBM - NG tube to drain stomach
IV fluids
Refer to paediatric surgical unit for emergency surgery
what is ileus?
a condition affecting the small bowel, where the normal peristalsis that pushes the contents along the length of the intestines, temporarily stops.
what is intussusception?
condition where the bowel “invaginates” or “telescopes” into itself.
who gets intussusception?
more common in boys
6 months - 2 years old
what conditions are associated with intussusception?
Concurrent viral illness Henoch-Schonlein purpura Cystic fibrosis Intestinal polyps Meckel diverticulum
Presentation of intussusception
Redcurrant jelly stool
Severe, colicky abdominal pain
Pale, lethargic and unwell child
Right upper quadrant mass = sausage shaped mass
Vomiting
Intestinal obstruction - vomiting, constipation and abdo distention
Ix for intussusception
US abdomen
contrast enema
mx of intussusception
therapeutic enema - contrast, water or air enemas are pumped into the colon to force the folded bowel out of the bowel
Surgical resection - if enemas don’t work or the bowel becomes gangrenous/perforation
complications of intussusception
Obstruction
Gangrenous bowel
Perforation
Death
What is Kawasaki disease?
also known as mucocutaneous lymph node syndrome
It is a systemic, medium-sized vessel vasculitis
Who gets Kawasaki disease?
<5 yo
Males
Asian - Japanese/Korean children
Clinical features of Kawasaki disease
Persistent high fever >39 for more than 5 days
Widespread erythematous maculopapular rash
desquamation (skin peeling) on palms and soles
strawberry tongue with large papillae
Cracked lips
Cervical lymphadenopathy
Bilateral conjunctivitis
Ix for Kawasaki disease
FBC - anaemia, leukocytosis and thrombocytosis
LFTs - hypoalbuminaemia and elevated liver enzymes
Raised ESR
Urinalysis - raised white cells
Echo - coronary artery pathology
what is the disease course of Kawasaki disease?
Acute phase: The child is most unwell with the fever, rash and lymphadenopathy. This lasts 1 – 2 weeks.
Subacute phase: The acute symptoms settle, the desquamation and arthralgia occur and there is a risk of coronary artery aneurysms forming. This lasts 2 – 4 weeks.
Convalescent stage: The remaining symptoms settle, the blood tests slowly return to normal and the coronary aneurysms may regress. This last 2 – 4 weeks.
Mx of Kawasaki disease
High dose aspirin (reduces the risk of thrombosis) IV immunoglobulins (reduces the risk of coronary artery aneurysms)
Why is aspirin usually avoided in children?
Risk of Reyes syndrome (swelling of liver and brain)
Key complication of Kawasaki disease?
coronary artery aneurysm - so follow up with echocardiograms
What is leukaemia?
cancer of a particular line of the stem cells in the bone marrow. This causes unregulated production of certain types of blood cells.
How can leukaemia be classified?
can be classified depending on how rapidly they progress (chronic is slow and acute is fast)
and the cell line that is affected (myeloid or lymphoid).
What are the types of leukaemia that affect children the most?
Acute lymphoblastic leukaemia (ALL) is the most common in children
Acute myeloid leukaemia (AML) is the next most common
Chronic myeloid leukaemia (CML) is rare
When is the peak age for ALL and AML?
ALL peaks aged 2 – 3 years
AML peaks aged under 2 years
Pathophysiology of leukaemia
A genetic mutation in one of the precursor cells in the bone marrow leads to excessive production of a single type of abnormal white blood cell.
Excessive production of a single type of cell = suppression of other cell lines = pancytopenia
Anaemia
Leukopenia
Thrombocytopenia
Risk factors for leukaemia
Radiation exposure Downs Kleinfelter syndrome Noonan syndrome Fanconi's syndrome
Presentation of leukaemia
Persistent fatigue Unexplained fever Failure to thrive Weight loss Night sweats Pallor (anaemia) Petechiae and abnormal bruising (thrombocytopenia) Unexplained bleeding (thrombocytopenia) Abdominal pain Generalised lymphadenopathy Unexplained or persistent bone or joint pain Hepatosplenomegaly
Diagnosis of leukaemia
FBC - anaemia. leukopenia, thrombocytopenia and high numbers of the abnormal WBCs
Blood film = BLAST CELLS
bone marrow biopsy
lymph node biopsy
For staging =
- CXR
- CT scan
- LP
- genetic analysis and immunophenotyping of the abnormal cells
When should you refer a child that you suspect has leukaemia?
Unexplained petechiae or hepatomegaly in any child
Do urgent FBC and refer
Mx of leukaemia
MDT Chemotherapy Radiotherapy Bone marrow transplant Surgery
complications of chemotherapy in children who have leukaemia
Failure to treat the leukaemia Stunted growth and development Immunodeficiency and infections Neurotoxicity Infertility Secondary malignancy Cardiotoxicity
Prognosis of leukaemia in children
Cure rate for ALL is 80%
Less positive outcomes for AML
what is meningitis?
inflammation of the meninges. The meninges are the lining of the brain and spinal cord. This inflammation is usually due to a bacterial or viral infection.
what are the common causes of bacterial meningitis in children?
children =
- neisseria meningitidis
- streptococcus pneumonia
Neonates =
- group b strep
what is meningococcal septicaemia?
the meningococcus* bacterial infection in the bloodstream
*neisseria meningitidis
What type of bacteria is neisseria meningitidis?
gram negative diplococcus
what is the classic sign of meningococcal septicaemia
non blanching rash
the neisseria meningitidis bacteria causes DIC and subcutaneous haemorrhages
Presentation of meningitis in children
fever neck stiffness vomiting headache photophobia altered consciousness seizures
presentation of meningitis in neonates
hypotonia poor feeding lethargy hypothermia bulging fontanelle
When should you do a lumbar puncture in children that you suspect have meningitis?
Under 1 month presenting with fever
1 to 3 months with fever and are unwell
Under 1 year with unexplained fever and other features of serious illness
what special tests on examination are used to test for meningitis?
Kernigs test - lie on back, flex hip to 90 d then slowly straighten the knee to stretch the meninges and cause spinal pain in meningitis
Brudzinski’s test - lie on back, gently lift head and neck off the bed and flex their chin to their chest. Positive if they involuntarily flex their hips and knees
Mx of bacterial meningitis in the community
If they have suspected meningitis + non blanching rash = IM benzylpenicillin STAT & transfer to hospital
Mx of bacterial meningitis in hospital
Blood culture and LP before abx
- Do meningococcal PCR on blood cultures
Under 3 months old = cefotaxime + amoxicillin
Older than 3 months = ceftriaxone
Steroids (dexamethasone) - to reduce risk of hearing loss and neurological damage
Who gets post exposure prophylaxis if they’ve been in contact with someone who has meningococcal infection?
Significant exposure to person with meningococcal meningitis/septicaemia within the 7 days prior to the onset of illness = need prophylaxis
What is the prophylaxis given to people exposed to meningococcal disease?
single dose of ciprofloxacin Give ASAP (ideally within 24 hrs of initial diagnosis)
mx of viral meningitis
acyclovir
supportive treatment
cause of viral meningitis
herpes simplex virus
enterovirus
varicella zoster virus
ix for viral meningitis
Viral PCR testing on CSF from LP
How is a lumbar puncture done?
Needle inserted into lower back between L3 and L4 (spinal cord ends at L1-2). A sample of CSF is collected.
What is done to samples of CSF taken on LP?
Bacterial culture Viral PCR Cell count Protein glucose
What do you see in the CSF when there’s a bacterial infection?
Cloudy appearance High protein Low glucose High WCC (neutrophils) Culture = bacteria
What do you see in the CSF when there’s a viral infection?
Clear appearance] Mildly raised or normal protein Normal glucose High WCC (lymphocytes) Culture = negative
Complications of meningitis
Hearing loss is a key complication
Seizures and epilepsy
Cognitive impairment and learning disability
Memory loss
Cerebral palsy, with focal neurological deficits such as limb weakness or spasticity
What is mumps?
a viral infection spread by respiratory droplets
what is the incubation period of mumps?
14-25 days
What vaccine is given to protect against mumps and how successful is it?
MMR
80% protective against mumps
What is the presentation of mumps?
Flu like prodrome:
- fever
- muscle aches
- lethargy
- reduced appetite
- headache
- dry mouth
Parotid gland swelling:
- unilateral or bilateral
- associated pain
Other symptoms:
- Abdo pain (pancreatitis)
- Testicular pain and swelling (orchitis)
- Confusion, neck stiffness and headache (meningitis/encephalitis)
How long does mumps last?
is usually a self limiting condition that lasts around 1 week.
Ix for mumps
Viral saliva swab for PCR testing
Can test the swab or blood for antibodies to mumps virus
Mx of mumps
Notifiable disease - talk to public health
Supportive mx - fluids, rest, analgesia
Complications of mumps
Pancreatitis
Orchitis
Meningitis
Sensorineural hearing loss
Causes of joint pain in children (divided into age)
0-4 yo
- septic arthritis
- developmental dysplasia of hip
- transient synovitis
5-10 yo
- septic arthritis
- transient synovitis
- perches disease
10-16 yo
- septic arthritis
- slipped upper femoral epiphysis
- JIA
What is infectious mononucleosis?
infection with Epstein Barr virus
found in the saliva of infected individuals.
Infection may be spread by kissing or by sharing cups, toothbrushes and other equipment that transmits saliva.
Infected as child = few symptoms, infections as teenager/young adult = severe symptoms
What happens when someone with infectious mononucleosis takes amoxicillin?
intensely itchy maculopapular rash
Symptoms of infectious mononucleosis
Fever Sore throat Fatigue Lymphadenopathy (swollen lymph nodes) Tonsillar enlargement Splenomegaly and in rare cases splenic rupture
Ix for heterophile antibodies
Test for heterophile antibodies - general antibodies made that are not specific to EBV antigens but the test is almost 100% specific for EBV. Can take 6 weeks to produce antibodies and not everyone produces them so is 70-80% sensitive.
Test for them with:
- Monospot test - RBCs from patients introduced to RBCs from horses. Heterophile antibodies present if the RBCs react to the horses
- Paul-Bunnell test - same but blood from sheep
Ix for infectious mononucleosis
Heterophile antibodies (monospot or paul-bunnell test)
EBV antibodies that target viral capsid antigen (IgM in early infection & IgG after infection)
mx of infectious mononucleosis
self limiting
supportive mx
Avoid alcohol
avoid contact sports - splenic rupture risk
prognosis of infectious mononucleosis
The acute illness lasts around 2 – 3 weeks, however it can leave the patient with fatigue for several months once the infection is cleared.
complications of infectious mononucleosis
Splenic rupture Glomerulonephritis Haemolytic anaemia Thrombocytopenia Chronic fatigue
Is associated with Bursitis lymphoma
Name inactivated vaccines
Polio
Flu vaccine
Hepatitis A
Rabies
name subunit and conjugate vaccines
Pneumococcus Meningococcus Hepatitis B Pertussis (whooping cough) Haemophilus influenza type B Human papillomavirus (HPV) Shingles (herpes-zoster virus)
name live attenuated vaccines
Measles, mumps and rubella vaccine: contains all three weakened viruses
BCG: contains a weakened version of tuberculosis
Chickenpox: contains a weakened varicella-zoster virus
Nasal influenza vaccine (not the injection)
Rotavirus vaccine
name toxin vaccines
diphtheria
tetanus
what type of vaccine can’t be given to immunocompromised patients?
live attenuated vaccines
What vaccines are given at 8 weeks?
6 in 1 vaccine (diphtheria, tetanus, pertussis, polio, haemophilus influenzae type B (Hib) and hepatitis B)
Meningococcal type B
Rotavirus (oral vaccine)
What vaccines are given at 12 weeks?
6 in 1 vaccine (again)
Pneumococcal (13 different serotypes)
Rotavirus (again)
What vaccines are given at 16 weeks?
6 in 1 vaccine (again)
Meningococcal type B (again)
What vaccines are given at 1 year
2 in 1 (haemophilus influenza type B and meningococcal type C) Pneumococcal (again) MMR vaccine (measles, mumps and rubella) Meningococcal type B (again)
What vaccines are given yearly from 2-8 yo
Influenza vaccine (nasal vaccine)
What vaccines are given at 3 years 4 months old?
4 in 1 (diphtheria, tetanus, pertussis and polio) MMR vaccine (again)
What vaccines are given at 12-13 year old
HPV (2 doses given 6 to 24 months apart)
What vaccines are given at 14 years old
3 in 1 (tetanus, diphtheria and polio)
Meningococcal groups A, C, W and Y
What is the current NHS vaccine for HPV?
Gardasil (protects from strains 6, 11, 16 and 18)
Who gets the BCG vaccine?
Children at risk of TB infection - relatives from countries with high TB prevalence
Offered from birth
what is sepsis?
a syndrome that occurs when an infection causes the child to become systemically unwell. It is the result of a severe systemic inflammatory response. It is a life threatening condition
signs of sepsis in children
Deranged physical observations Prolonged CRT Fever / hypothermia Deranged behaviour Poor feeding Inconsolable or high pitched crying High pitched or weak cry Reduced consciousness Reduced body tone (floppy) Skin colour changes (cyanosis, mottled pale or ashen) Shock involves circulatory collapse and hypoperfusion of organs.
Pathology of sepsis
macrophages, lymphocytes and mast cells release cytokines, interleukins and TNF
Causes the release of nitrous oxide = vasodilation
cytokines cause endothelial lining of blood vessels to become more permeable = oedema & reduction in intravasc vol
Get DIC as the coagulation system is activated = consumption of platelets and clotting factors to create blood clots = thrombocytopenia and haemorrhages
Blood lactate rises due to anaerobic respiration
What is septic shock?
when sepsis has lead to cardiovascular dysfunction.
Arterial BP falls = organ hypo perfusion
Rise in blood lactate due to anaerobic respiration by organs
Mx of septic shock
IV fluids
If that fails - ICU for inotropes e.g. noradrenalin
immediate management of sepsis in children
Give O2 Get IV access Take bloods - FBC, U&E, CRP, INR, blood gas (lactate & acidosis) Take blood cultures Urine dipstick Give Abx within 1 hour of presentation IV fluids - 20ml/kg IV bolus of saline
additional management for sepsis in children
CXR Abdo and pelvic USS LP for meningitis Meningococcal PCR blood test Serum cortisol (if adrenal crisis suspected)
Continue abx for 5-7 days if bacterial infection suspected
What is spinal muscular atrophy?
a rare autosomal recessive condition that causes a progressive loss of motor neurones, leading to progressive muscular weakness.
Which neurones are affected in SMA?
the lower motor neurones in the spinal cord.
Types of SMA
SMA type 1 has an onset in the first few months of life, usually progressing to death within 2 years.
SMA type 2 (most common) has an onset within the first 18 months. Most never walk, but survive into adulthood.
SMA type 3 has an onset after the first year of life. Most walk without support, but subsequently loose that ability. Respiratory muscles are less affected and life expectancy is close to normal.
SMA type 4 has an onset in the 20s. Most will retain the ability to walk short distances but require a wheelchair for mobility. Everyday tasks can lead to significant fatigue. Respiratory muscles and life expectancy are not affected.
symptoms of SMA
Fasiculations Reduced muscle bulk Reduced tone Reduced power Reduced/absent reflexes
mx of SMA
MDT physio NIV SMA 1 - tracheostomy and ventilation may be required PEG feeding
types of acyanotic heart disease
VSD ASD PDA Coarctation of the aorta Aortic valve stenosis
types of cyanotic heart disease
tetralogy of Fallot
transposition of the great arteries (TGA)
tricuspid atresia
ebsteins anomaly
cause of ebstein’s anomaly
lithium use in pregnancy
What is ebsteins anomaly?
a congenital heart condition where the tricuspid valve is set lower in the right side of the heart (towards the apex), causing a bigger right atrium and a smaller right ventricle
poor flow to r ventricle
what direction is the shunt in ebsteins anomaly
right to left via an atrial septal defect = cyanosis
what syndrome is ebsteins anomaly associated with?
Wolff-Parkinson-White syndrome.
signs of ebsteins anomaly
tricuspid regurgitation (pan-systolic murmur) and tricuspid stenosis (mid-diastolic murmur)
Evidence of heart failure (e.g. oedema) Gallop rhythm heard on auscultation characterised by the addition of the third and fourth heart sounds Cyanosis Shortness of breath and tachypnoea Poor feeding Collapse or cardiac arrest
ix ebsteins anomaly
echo
cxr - box shaped heart due to R atrium hypertrophy
mx ebsteins anomaly
tx arrhythmias and HF
prophylactic abx (IE)
surgical correction
in children < 3 months wha tax are given for meningitis?
IV amoxicillin + cefotaxime (to cover for listeria)
what is Duchenne muscular atrophy
an X-linked recessive inherited disorder in the dystrophin genes required for normal muscular function.
symptoms of Duchenne muscular atrophy
progressive proximal muscle weakness from 5 years
calf pseudohypertrophy
Gower’s sign: child uses arms to stand up from a squatted position
30% of patients have intellectual impairment
ix for Duchenne muscular dystrophy
raised creatinine kinase
genetic testing has now replaced muscle biopsy as the way to obtain a definitive diagnosis
mx of Duchenne muscular dystrophy
supportive
MDT
prognosis of Duchenne muscular dystrophy
most children cannot walk by the age of 12 years
patients typically survive to around the age of 25-30 years
associated complication with Duchenne muscular dystrophy
dilated cardiomyopathy
causes of neonatal hypotonia
neonatal sepsis
Werdnig-Hoffman disease (spinal muscular atrophy type 1)
hypothyroidism
Prader-Willi
maternal drugs e.g. benzodiazepines
maternal myasthenia gravis
tx for threadworms
single dose mebendazole for whole household and hygiene advice
What is pyloric stenosis?
hypertrophy and narrowing of the pylorus (exit of the stomach)
symptoms of pyloric stenosis
Present in the first few weeks of life hungry, thin pale baby failure to thrive PROJECTILE VOMITING Mass in upper abdomen - LARGE OLIVE after feeding, can observe peristalsis in the abdomen
Blood gas results for pyloric stenosis
hypochloric metabolic alkalosis
low chloride & alkalotic from vomiting hydrochloric acid
Ix for pyloric stenosis
Abdo USS - visualise thickened pylorus
Mx of pyloric stenosis
Laparoscopic pyloromyotomy = ramstedt’s operation
Incision is made in the smooth muscle of the pylorus to widen the canal
What causes rubella
togavirus
What vaccine protects against rubella
MMR
symptoms of rubella
prodrome, e.g. low-grade fever
rash: maculopapular, initially on the face before spreading to the whole body, usually fades by the 3-5 day
lymphadenopathy: suboccipital and postauricular
complications of rubella
arthritis
thrombocytopaenia
encephalitis
myocarditis
How is sickle cell anaemia inherited?
autosomal recessive condition
abnormal gene for beta-globing on chromosome 11
one copy of the gene = sickle cell trait (asymptomatic)
two copies of the gene = sickle cell disease
What is sickle cell anaemia?
a genetic condition that causes sickle (crescent) shaped red blood cells.
This makes the red blood cells fragile and more easily destroyed, leading to a haemolytic anaemia.
Patients with sickle cell anaemia are prone to various types of sickle cell crises.
Pathology of sickle cell anaemia
normal haemoglobin: HbAA
sickle cell trait: HbAS
homozygous sickle cell disease: HbSS. Some patients inherit one HbS and another abnormal haemoglobin (HbC) resulting in a milder form of sickle cell disease (HbSC)
sickle cells are fragile and haemolyse; they block small blood vessels and cause infarction
Ix for sickle cell anaemia
women at risk of being carrier are offered testing during pregnancy
tested on newborn screening heel prick on day 5
diagnosis = haemoglobin electrophesis
things tested for on the day 5 newborn heel prick
sickle cell disease
cystic fibrosis
congenital hypothyroidism
6 inherited metabolic disease - phenylketonuria medium chain acyl-coA dehydrogenase deficiency maple syrup urine disease isovaleric academia glutamic acuduria type 1 homocytinuria
symptoms of sickle cell anaemia
anaemia increased infection risk stroke avascular necrosis of large joints e.g. hip pulmonary HTN painful and persistent penile erectile (priapism) CKD Sickle cell crises acute chest syndrome
mx of sickle cell disease
Avoid dehydration and other triggers of crises
Ensure vaccines are up to date
Antibiotic prophylaxis to protect against infection, usually with penicillin V (phenoxymethypenicillin)
Hydroxycarbamide can be used to stimulate production of fetal haemoglobin (HbF). Fetal haemoglobin does not lead to sickling of red blood cells. This has a protective effect against sickle cell crises and acute chest syndrome.
Blood transfusion for severe anaemia
Bone marrow transplant can be curative
What is a sickle cell crisis
an umbrella term for a spectrum of acute crises related to the condition. These range from mild to life threatening.
triggers for sickle cell crises
occur spontaneously infection dehydration cold significant life events
mx for sickle cell crises
Have a low threshold for admission to hospital
Treat any infection
Keep warm
Keep well hydrated (IV fluids may be required)
Simple analgesia such as paracetamol and ibuprofen (NSAIDs should be avoided where there is renal impairment)
Penile aspiration is used to treat priapism
what is a vaso-occulsive crisis in sickle cell anaemia?
caused by the sickle shaped blood cells clogging capillaries and causing distal ischaemia
causes of vaso-occulsive crisis in sickle cell anaemia?
dehydration
raised haematocrit
symptoms of vaso-occulsive crisis in sickle cell anaemia
pain
fever
priapism
what is a splenic sequestration crisis in sickle cell anaemia?
Splenic sequestration crisis is caused by red blood cells blocking blood flow within the spleen.
= acutely enlarged and painful spleen.
The pooling of blood in the spleen can lead to severe anaemia and circulatory collapse (hypovolaemic shock).
mx for splenic sequestration crisis in sickle cell anaemia?
emergency
- supportive
- blood transfusions
- fluid resuscitation
need splenectomy if recurrent crises
what is an aplastic crisis in sickle cell anaemia and what is the most common trigger?
a situation where there is temporary loss of the creation of new blood cells.
This is most commonly triggered by infection with parvovirus B19.
= significant anaemia
How do you diagnose acute chest syndrome in sickle cell anaemia?
fever or respiratory symptoms with new infiltrates seen on CXR
causes of acute chest syndrome in sickle cell anaemia?
infection - pneumonia or bronchiolitis
non infective - pulmonary vaso occlusion or fat emboli
mx of acute chest syndrome in sickle cell anaemia
medical emergency
Antibiotics or antivirals for infections
Blood transfusions for anaemia
Incentive spirometry using a machine that encourages effective and deep breathing
Artificial ventilation with NIV or intubation may be required
UTI symptoms in children
FEVER
Babies: Fever Lethargy Irritability Vomiting Poor feeding Urinary frequency
Children: Fever Abdominal pain, particularly suprapubic pain Vomiting Dysuria (painful urination) Urinary frequency Incontinence
When can pyelonephritis be diagnosed?
A temperature greater than 38°C
Loin pain or tenderness
Ix for UTI
clean catch urine sample for:
- urine dip - nitrates, leukocytes
- MC&S
Mx of UTI
All children under 3 months with a fever should start immediate IV antibiotics (e.g. ceftriaxone) and have a full septic screen = blood cultures, bloods, lactate + consider LP
Oral abx if >3 months if otherwise well:
- trimethoprim
- nitrofurantoin
- cefalexin
- amoxicillin
Ix for recurrent/atypical UTIs
abdo USS for:
- children <6 months with first UTI have USS within 6 weeks
- Children with recurrent UTIs have USS within 6 weeks
- Children with atypical UTI have USS during illness
DMSA scan :
- used to ix 4-6 months after illness to assess for damage from recurrent/atypical UTIs
Micturating cystourethrogram:
Used to assess for vesico-ureteric reflux
what is a viral exanthem?
an eruptive widespread rash
There are 6 underlying causes
What are the 6 underlying causes of viral exanthema?
Measles (measles virus) Scarlet fever (strep pyogenes) Rubella (rubella virus) Duke's disease (non specific) Parvovirus B19 - slapped cheek disease Roseola infantum
Symptoms of measles
Start with fever, coryza and conjunctivitis
Koplik spots on buccal mucosa
rash that starts on face and behind ears, then spreads to the rest of the body - red macular rash with flat lesions
Public health measures for measles
Report to public health - notifiable disease
isolate for 4 days after symptoms resolve
Complications of measles
Pneumonia Diarrhoea Dehydration Encephalitis Meningitis Hearing loss Vision loss Death
What causes scarlet fever?
Group A streptococcus - strep pyogenes
associated with tonsillitis
Symptoms of scarlet fever
red-pink blotchy macular rash with rough 'sandpaper' skin that starts on the trunk and spreads outwards red flushed cheeks fever lethargy sore throat strawberry tongue cervical lymphadenopathy
Mx of scarlet fever
penicillin V for 10 days
Public health measures for scarlet fever
notifiable disease
stay off school until 24 hours after starting abx
symptoms of rubella
erythematous macular rash on face and spreads to rest of body (not as bad as measles)
mild fever
joint pain
sore throat
lymphadenopathy - behind ears and back of neck)
Public health measure for rubella
notifiable disease
stay off school for 5 days after rash appears
avoid pregnant women
complications of rubella
thrombocytopenia
encephalitis
dangerous in pregnancy - congenital rubella syndrome: deafness, blindness, congenital heart disease
What is Duke’s disease?
non-specific ‘viral rash’
what is the disease called that is caused by parvovirus B19?
slapped cheek disease / erythema infectiosum
symptoms of parvovirus B19
mild fever
coryza
muscle aches
lethargy
bright red rash on both cheeks - slapped cheeks
spreads to give reticular erythematous rash on trunk and limbs that’s itchy
what causes roseola infantum?
human herpes virus 6 / 7
what is volvulus?
torsion of the colon around it’s mesenteric axis resulting in compromised blood flow and closed loop obstruction
What is osteogenesis imperfecta?
a genetic condition that results in brittle bones that are prone to fractures
genetic mutations that affect collagen formation
presentation of osteogenesis imperfecta
blue sclera hyper mobility unusual/recurrent fractures triangular face short stature deafness from early adulthood dental problems - formation of teeth bone deformities - bowed legs and scoliosis joint and bone pain
mx for osteogenesis imperfecta
bisphosphonates
vitamin D supplements
MDT
What is osgood-schlatter disease?
inflammation at the tibial tuberosity where the patella ligament inserts
anterior knee pain in teenagers
more common in males
unilateral usually
presentation of osgood schlatter disease
a gradual onset of symptoms:
Visible or palpable hard and tender lump at the tibial tuberosity
Pain in the anterior aspect of the knee
The pain is exacerbated by physical activity, kneeling and on extension of the knee
pathology of osgood schlatters disease
stress from running/jumping at the time of growth in the epiphyseal plate = inflammation on the tibial epiphyseal plate
get small multiple avulsion fractures as the patella ligament pulls away tiny pieces of bone
leads to growth of the tibial tuberosity = visible lump below the knee
mx of osgood schlatters disease
reduction in physical activity
Ice
NSAIDs
prognosis of osgood schlatters disease
fully resolves over time
rare complication = avulsion fracture
What is achondroplasia?
most common cause of disproportionate short stature (dwarfism).
It is a type of skeletal dysplasia.
Genetic mutations in achondroplasia
autosomal dominant inheritance
mutation in FGFR3 gene on chromosome 4
homozygous gene mutations = fatal in the neonatal period
therefore patients have one normal and one abnormal gene
Symptoms of achondroplasia
disproportionate short stature average height = 4 feet limbs mostly affected by reduced bone length, spine length less affected intelligence and life expectancy not affected short digits genu varum disproportionate skull foramen magnum stenosis
Associated condition with achondroplasia
Recurrent otitis media, due to cranial abnormalities
Kyphoscoliosis
Spinal stenosis
Obstructive sleep apnoea
Obesity
Foramen magnum stenosis can lead to cervical cord compression and hydrocephalus
mx of achondroplasia
MDT
leg lengthening surgery - not done very much
What is developmental dysplasia of the hips
A condition where there is a structural abnormality in the hips due to abnormal development of bones during pregnancy.
Instability in the hips - tendency for subluxation or dislocation
Risk factors for developmental dysplasia of the hips
First degree family history
Breech presentation from 36 weeks onwards
Breech presentation at birth if 28 weeks onwards
Multiple pregnancy
Screening for developmental dysplasia of the hips
Done during the neonatal examination (at birth then 6-8 weeks old)
Ortolani test
Barlow test
Findings on examination that suggest developmental dysplasia of the hips
Different leg lengths
Restricted hip abduction on one side
Significant bilateral restriction in abduction
Difference in the knee level when the hips are flexed
Clunking of the hips on special tests
what is the ortolani test
done to look for developmental dysplasia of the hips
lie baby on back, flex hips and knees, abduct the hips and apply pressure behind the legs - see if the hips will dislocate anteriorly
what is the Barlow test
done to look for developmental dysplasia of the hips
lie baby on back, with hips and knees flexed and knees together, put gentle downward pressure on the knee to see if the femoral head will dislocate posteriorly
Diagnosis of developmental dysplasia of the hips
If its suspected do an USS of the hips
x-rays helpful in older infants
Mx of developmental dysplasia of the hips
Pavlik harness (<6 months old) - keeps the hips flexed and abducted to hold femoral head in the correct position while the acetabulum develops to a normal shape
surgery if the harness fails / >6 months - then need hip spica cast
What is talipes?
a fixed abnormal ankle position that presents at birth.
clubfoot
What are the 2 types of talipes?
Talipes equinovarus describes the ankle in plantar flexion and supination.
Talipes calcaneovalgus describes the ankle in dorsiflexion and pronation.
mx of talipes
Ponseti Method
- foot is manipulated into a normal position and cast appleid
- this is repeated until the foot is in the correct position
- need achilles tenotomy
- brace to hold feet in correct position afterwards
What is slipped upper femoral epiphysis?
the head of the femur is displaced (“slips”) along the growth plate.
Who gets slipped upper femoral epiphysis?
Boys 8-15 yo
more common in obese children
Presentation of slipped upper femoral epiphysis?
growth spurt minor trauma hip, groin, thigh or knee pain restricted range of hip movement painful limp restricted movement in hip
prefer their hip in external rotation
diagnosis of slipped upper femoral epiphysis?
xray
inflammatory markers to exclude other causes
technetium bone scan
CT/MRI scan
Mx of slipped upper femoral epiphysis
surgery to return femoral head to correct position
What is perthes disease?
disruption of blood flow to the femoral head, causing avascular necrosis of the bone.
who gets perthes disease
4-12 yo
more common in body
cause of perthes disease
idiopathic
presentation of perthes disease
a slow onset of:
Pain in the hip or groin Limp Restricted hip movements There may be referred pain to the knee There will be no history of trauma
Ix for perthes disease
xray can be normal
technetium bone scan
MRI scan
mx of perthes disease
mild = bed rest traction crutches analgesia physio regular xrays to assess healing
more severe/older children = surgery to improve the alignment of the femoral head and hip
