Paediatrics Flashcards
Achondroplasia
Dwarfism
No treatment
Acute epiglottitis
A rare but serious infection caused by Haemophilus influenzae type B.
Features
-rapid onset
-high temperature, generally unwell
-stridor
-drooling of saliva
-‘tripod’ position: the patient finds it easier to breathe if they are leaning forward and extending their neck in a seated position
Investigations;
-Do not examine the neck if you suspect this
-Diagnosis is made by direct visualisation (only by senior/airway trained staff)
-X ray of neck may help (Thumb sign)- avoid! nothing that could compromise airway
Management;
-immediate senior involvement (those able to provide emergency airway support (e.g. anaesthetics, ENT))
- possible endotracheal intubation (don’t examine neck)
-oxygen
-IV antibiotics as per local policy
Acute lymphoblastic anaemia (ALL)
the most common malignancy affecting children and accounts for 80% of childhood leukaemias. The peak incidence is at around 2-5 years of age and boys are affected slightly more commonly than girls
Features may be divided into those predictable by bone marrow failure:
-anaemia: lethargy and pallor
-neutropaenia: frequent or severe infections
-thrombocytopenia: easy bruising, petechiae
And other features
-bone pain (secondary to bone marrow infiltration)
-splenomegaly
-hepatomegaly
-fever- (infection or constitutional symptom)
-testicular swelling
Poor prognostic factors
-age < 2 years or > 10 years
-WBC > 20 * 109/l at diagnosis
-T or B cell surface markers
-non-Caucasian
-male sex
APGAR Score
Activity (muscle tone)
Pulse
Grimace (reflex irritability)
Appearance (colour)
Respiratory effort
0-3 is very low score
4-6 is moderate low
7 - 10 means the baby is in a good state
Appendicitis in children
Appendicitis is one of the most common acute surgical problems facing children. Diagnosis is often made difficult by a presentation which is far from the classically history of:
-central abdominal pain which later radiates to the right iliac fossa
-low-grade pyrexia
-minimal vomiting
Children who are younger or have a retrocaecal/pelvic appendix are more likely to present in an atypical way
Appendicitis is uncommon in children under 4 years old but in this group often presents with perforation
List some autosomal dominant conditions
Huntington’s
Myotonic dystrophy
Osteogenesis imperfecta
Retinoblastoma
Tuberous sclerosis
Von Hippel-Lindau syndrome
Von Willebrand’s disease (type 3 is recessive)
List some autosomal recessive conditions
Albinism
Cystic fibrosis
Gilbert’s syndrome (sources differ)
Haemochromatosis
Sickle cell anaemia
Thalassaemias
Wilson’s disease
Benign rolandic epilepsy
Benign Rolandic epilepsy is a form of childhood epilepsy that typically occurs between the age of 4 and 12 years.
Features
-seizures characteristically occur at night
-seizures are typically partial (e.g. paraesthesia affecting face) but secondary generalisation may occur (i.e. parents may only report tonic-clonic movements)
-child is otherwise normal
EEG characteristically shows centro-temporal spikes
Prognosis is excellent, with seizures stopping by adolescence
Biliary atresia
a paediatric condition involving either obliteration or discontinuity within the extrahepatic biliary system, which results in an obstruction in the flow of bile. This results in a neonatal presentation of cholestasis in the first few weeks of life.
Patients typically present in the first few weeks of life with:
-Jaundice extending beyond the physiological two weeks
-Dark urine and pale stools
-Appetite and growth disturbance, however, may be normal in some cases
-Hepatomegaly with splenomegaly
-Possible cardiac murmurs
Investigations and management of biliary atresia
Investigations:
-Total bilirubin normal, conjugated bilirubin high
-Liver function tests (LFTs) usually raised
-Serum alpha 1-antitrypsin: Deficiency may be a cause of neonatal cholestasis
-Sweat chloride test: CF can involve biliary tract
-USS of the biliary tree and liver: May show distension and tract abnormalities
-Percutaneous liver biopsy with intraoperative cholangioscopy
Management:
-Surgical intervention (definitive)
-Medical intervention includes antibiotic coverage and bile acid enhancers following surgery
Complications:
-Unsuccessful anastomosis formation
-Progressive liver disease
-Cirrhosis with eventual hepatocellular carcinoma
Prognosis:
-Prognosis is good if surgery is successful
-In cases where surgery fails, liver transplantation may be required in the first two years of life
Bronchiolitis
a condition characterised by acute bronchiolar inflammation. Respiratory syncytial virus (RSV) is the pathogen in 75-80% of cases. It is the most common cause of a serious lower respiratory tract infection in < 1yr olds (more common in winter too)
Features
-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
NICE recommend immediate referral (usually by 999 ambulance) if they have any of the following:
-apnoea (observed or reported)
-child looks seriously unwell to a healthcare professional
-severe respiratory distress, for example grunting, marked chest recession, or a respiratory rate of over 70 breaths/minute
-central cyanosis
-persistent oxygen saturation of less than 92% when breathing air.
NB- clinical diagnosis, but in AE would want CXR, ABG etc.
Management is largely supportive
-humidified oxygen is given via a head box and is typically recommended if the oxygen saturations are persistently < 92%
-nasogastric feeding may be needed if children cannot take enough fluid/feed by mouth
-suction is sometimes used for excessive upper airway secretions
NB- the infection is more serious if bronchopulmonary dysplasia (e.g. Premature), congenital heart disease or cystic fibrosis
Caput succedaneum
describes oedema of the scalp at the presenting part of the head, typically the vertex. This may be due to mechanical trauma of the initial portion of the scalp pushing through the cervix in a prolonged delivery or secondary to the use of ventouse (vacuum) delivery.
Features
-soft, puffy swelling due to localised oedema
-crosses suture lines
No treatment is needed.
Cephalohaematoma
seen as a swelling on the newborns head. It typically develops several hours after delivery and is due to bleeding between the periosteum and skull. The most common site affected is the parietal region
Jaundice may develop as a complication.
A cephalohaematoma up to 3 months to resolve.
NB- does not cross the suture lines
Cerebral palsy
a disorder of movement and posture due to a non-progressive lesion of the motor pathways in the developing brain
Possible manifestations include:
-abnormal tone early infancy
-delayed motor milestones
-early hand dominance
-abnormal gait
-feeding difficulties.
Children with cerebral palsy often have associated non-motor problems such as:
-learning difficulties (60%)
-epilepsy (30%)
-squints (30%)
-hearing impairment (20%)
Management
-as with any child with a chronic condition a multidisciplinary approach is needed
-treatments for spasticity include oral diazepam, oral and intrathecal baclofen, botulinum toxin type A, orthopaedic surgery and selective dorsal rhizotomy
-anticonvulsants, analgesia as required
-physiotherapy, social work, occupational health and social workers, charity and support groups, SALT team
Chickenpox
caused by primary infection with varicella zoster virus. Shingles is a reactivation of the 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
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
Management is supportive
-keep cool, trim nails
-calamine lotion
-school exclusion: NICE Clinical Knowledge Summaries state the following: Advise that the most infectious period is 1–2 days before the rash appears, but infectivity continues until all the lesions are dry and have crusted over (usually about 5 days after the onset of the rash).
-immunocompromised patients and newborns with peripartum exposure should receive varicella zoster immunoglobulin (VZIG). If chickenpox develops then IV aciclovir should be considered
Chickenpox complications
A common complication is secondary bacterial infection of the lesions
-NSAIDs may increase this risk
-whilst this commonly may manifest as a single infected lesion/small area of cellulitis, in a small number of patients invasive group A streptococcal soft tissue infections may occur resulting in necrotizing fasciitis
Rare complications include
-pneumonia
-encephalitis (cerebellar involvement may be seen)
-disseminated haemorrhagic chickenpox
-arthritis, nephritis and pancreatitis may very rarely be seen
Child abuse
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Child abuse presentations
Children may disclose abuse themselves. Other factors which point towards child abuse include:
-story inconsistent with injuries
-repeated attendances at A&E departments
-delayed 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
Neglect- Failure to thrive, Inadequate hygiene eg severe nappy rash, infestation, Poor development of emotional attachment to child’s caregiver, Delay in development and speech and language, Poor attendance for school and health appointments e.g. immunisations, Failure to supervise eg toddler hit by car while roaming, Unsupervised young children at home- law not clear
Sexual abuse- Disclosure (please believe the child), Sexually transmitted disease, Sexualised behaviour, Pregnancy, Soiling, dysuria and painful defecation
Fictitious illness- Often on background of existing disease, Bizarre illness events, Strange new symptoms, Parental reportage out of keeping with physical findings, Symptoms eg fits not witnessed by others e.g. school, Unneeded operations e.g. tonsils removed because parents kept requesting
Child health surveillance
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Childhood infections
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Childhood genetic syndromes
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Cleft lip
Pathophysiology
-polygenic inheritance
-maternal antiepileptic use increases risk
-cleft lip results from failure of the fronto-nasal and maxillary processes to fuse
-cleft palate results from failure of the palatine processes and the nasal septum to fuse
Problems
-feeding: orthodontic devices may be helpful
-speech: with speech therapy 75% of children develop normal speech
-increased risk of otitis media for cleft palate babies
Management
-cleft lip is repaired earlier than cleft palate, with practices varying from repair in the first week of life to three months
-cleft palates are typically repaired between 6-12 months of age
Features of coeliac disease in children
Features may coincide with the introduction of cereals (i.e. gluten)
-failure to thrive
-diarrhoea
-abdominal distension
-older children may present with anaemia
-many cases are not diagnosed to adulthood
Congenital diaphragmatic hernia
It is characterised by the herniation of abdominal viscera into the chest cavity due to incomplete formation of the diaphragm. This can result in pulmonary hypoplasia and hypertension which causes respiratory distress shortly after birth.
May hear tinkling bowel sounds in the chest/absence of breath sounds (typically on the LHS)- child will require intubation and ventilation
Only around 50% of new-borns with CDH survive despite modern medical intervention.
Congenital heart disease
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.
Cyanotic - most common causes (3T’s)
-tetralogy of Fallot
-transposition of the great arteries (TGA)
-tricuspid atresia
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
The presence of cyanosis in pulmonary valve stenosis depends very much on the severity and any other coexistent defects.
Congenital infections
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Children and consent
The law around consent in children is complicated. However, as a rough guide:
-patients less than 16 years old may consent to treatment if they are deemed to be competent (an example is the Fraser guidelines, previously termed Gillick competence), but cannot refuse treatment which may be deemed in their best interest
-between the ages of 16-18 years it is presumed patients are competent to give consent to treatment
-patients 18 years or older may consent to treatment or refuse treatment
With regards to the provision of contraceptives to patients under 16 years of age the Fraser Guidelines state that all the following requirements should be fulfilled:
-the young person understands the professional’s advice
-the young person cannot be persuaded to inform their parents
-the young person is likely to begin, or to continue having, sexual intercourse with or without contraceptive treatment
-unless the young person receives contraceptive treatment, their physical or mental health, or both, are likely to suffer
-the young person’s best interests require them to receive contraceptive advice or treatment with or without parental consent
Constipation in children
Management;
Non-pharmacological- diet (fluid and fibre, reduce cows’ milk), behavioural training (encourage regular toileting, bowel diaries and reward systems), education: cause and involuntary nature of soiling
Pharmacological- Disimpaction (movicol- may get increased soiling initially, then senna if that doesn’t work), then maintenance dose (movicol)
Complications;
-faecal impaction
-bedwetting (always ask about stools in an enuresis history)
-anal fissure
-rectal prolapse
Cow’s milk protein intolerance/allergy (CMPI/CMPA)
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.
Features
-regurgitation and vomiting
-diarrhoea
-urticaria, atopic eczema
-‘colic’ symptoms: irritability, crying
-wheeze, chronic cough
-rarely angioedema and anaphylaxis may occur
Diagnosis is often clinical (e.g. improvement with cow’s milk protein elimination). Investigations include:
-skin prick/patch testing
-total IgE and specific IgE (RAST) for cow’s milk protein
If the symptoms are severe (e.g. failure to thrive) refer to a paediatrician.
Management if formula-fed;
-extensive hydrolysed formula (eHF) milk is the first-line replacement formula for infants with mild-moderate symptoms
amino acid-based formula (AAF) in infants with severe CMPA or if no response to eHF
Management if breastfed;
-continue breastfeeding
-eliminate cow’s milk protein from maternal diet.
-use eHF milk when breastfeeding stops, until 12 months of age and at least for 6 months
Croup
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. (bronchiolitis is lower, croup and epiglottis are upper)
Epidemiology
-peak incidence at 6 months - 3 years
-more common in autumn
Features
-stridor
-barking cough (worse at night)
-fever
-coryzal symptoms
CKS suggest admitting any child with moderate or severe croup. Other features which should prompt admission include:
-< 6 months of age
-known upper airway abnormalities (e.g. Laryngomalacia, Down’s syndrome)
-uncertainty about diagnosis (important differentials include acute epiglottitis, bacterial tracheitis, peritonsillar abscess and foreign body inhalation)
Investigations
-diagnosed clinically
however, if a chest x-ray is done:
-a posterior-anterior view will show subglottic narrowing, commonly called the ‘steeple sign’
Management
-a single dose of oral dexamethasone (0.15mg/kg) to all children regardless of severity (check max dose, and uses BNF children)
-prednisolone is an alternative if dexamethasone is not available
Emergency treatment
-high-flow oxygen
-nebulised adrenaline (for severe croup)
Grading of croup
Mild;
Occasional barking cough
No audible stridor at rest
No or mild suprasternal and/or intercostal recession
The child is happy and is prepared to eat, drink, and play
Moderate;
Frequent barking cough
Easily audible stridor at rest
Suprasternal and sternal wall retraction at rest
No or little distress or agitation
The child can be placated and is interested in its surroundings
Severe;
Frequent barking cough
Prominent inspiratory (and occasionally, expiratory) stridor at rest
Marked sternal wall retractions
Significant distress and agitation, or lethargy or restlessness (a sign of hypoxaemia)
Tachycardia occurs with more severe obstructive symptoms and hypoxaemia
Cyanosis in neonatal period
The nitrogen washout test (also known as the hyperoxia test) may be used to differentiate cardiac from non-cardiac causes. The infant is given 100% oxygen for ten minutes after which arterial blood gases are taken. A pO2 of less than 15 kPa indicates cyanotic congenital heart disease
Initial management of suspected cyanotic congenital heart disease
-supportive care
-prostaglandin E1 e.g. alprostadil (used to maintain a patent ductus arteriosus in ductal-dependent congenital heart defect, this can act as a holding measure until a definite diagnosis is made and surgical correction performed)
NB- Acrocyanosis is often seen in healthy newborns and refers to the peripheral cyanosis around the mouth and the extremities (hands and feet)
Cystic Fibrosis (CF)
An autosomal recessive disorder causing increased viscosity of secretions (e.g. lungs and pancreas). It is due to a defect in the cystic fibrosis transmembrane conductance regulator gene (CFTR), which codes a cAMP-regulated chloride channel
Presenting features
-neonatal period (around 20%): meconium ileus, less commonly prolonged jaundice
-recurrent chest infections (40%)
-malabsorption (30%): steatorrhoea, failure to thrive
-other features (10%): liver disease
Many patients are picked up during newborn screening programmes (raised IRT) or early childhood, but some are picked up after 18 years. If IRT is raised, then they undergo a sweat test (raised in CF)
Other features of cystic fibrosis
-short stature
-diabetes mellitus
-delayed puberty
-rectal prolapse (due to bulky stools)
-nasal polyps
-male infertility, female subfertility
Management of CF
-Lifestyle- regular (at least twice daily) chest physiotherapy and postural drainage. Deep breathing exercises, high calorie diet, including high fat intake
NB- minimise contact with each other CF patients to prevent cross infection with Burkholderia cepacia complex and Pseudomonas aeruginosa
-Medical- vitamin supplementation, pancreatic enzyme supplements, lumacaftor (patients who are homozygous for the delta F508 mutation), long term prophylactic flucloxacillin to prevent staph aureus infection
-Surgery- lung transplantation
(chronic infection with Burkholderia cepacia is an important CF-specific contraindication to lung transplantation)
Development Problems
Referral points
-doesn’t smile at 10 weeks
-cannot sit unsupported at 12 months
-cannot walk at 18 months
Fine motor skill problems
-hand preference before 12 months is abnormal and may indicate cerebral palsy
Gross motor problems
-most common causes of problems: variant of normal, cerebral palsy and neuromuscular disorders (e.g. Duchenne muscular dystrophy)
Speech and language problems
-always check hearing
-other causes include environmental deprivation and general development delay
Developmental dysplasia of the hip (DDH)
Risk factors
-female sex: 6 times greater risk
-breech presentation
-positive family history
-firstborn children
-oligohydramnios
-birth weight > 5 kg
Screening for DDH
the following infants require a routine ultrasound examination
-first-degree family history of hip problems in early life
-breech presentation at or after 36 weeks gestation, irrespective of presentation at birth or mode of delivery
-multiple pregnancy
NB- all infants are screened at both the newborn check and also the six-week baby check using the Barlow and Ortolani tests (and USS)
Clinical examination
-Barlow test: attempts to dislocate an articulated femoral head
-Ortolani test: attempts to relocate a dislocated femoral head
other important factors include:
-symmetry of leg length
-level of knees when hips and knees are bilaterally flexed
-restricted abduction of the hip in flexion
Imaging
-ultrasound is generally used to confirm the diagnosis if clinically suspected
-however, if the infant is > 4.5 months then x-ray is the first line investigation
Management
-most unstable hips will spontaneously stabilise by 3-6 weeks of age
-Pavlik harness (dynamic flexion-abduction orthosis) in children younger than 4-5 months
-older children may require surgery
Developmental milestones
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Diarrhoea
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
Chronic diarrhoea
-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
Disorders of sex hormones
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Down syndrome features
Clinical features;
face: upslanting palpebral fissures, epicanthic folds, Brushfield spots in iris, protruding tongue, small low-set ears, round/flat face
flat occiput
single palmar crease, pronounced ‘sandal gap’ between big and first toe
hypotonia
congenital heart defects (40-50%, see below)
duodenal atresia
Hirschsprung’s disease
Cardiac complications
multiple cardiac problems may be present
endocardial cushion defect (most common, 40%, also known as atrioventricular septal canal defects)
ventricular septal defect (c. 30%)
secundum atrial septal defect (c. 10%)
tetralogy of Fallot (c. 5%)
isolated patent ductus arteriosus (c. 5%)
Later complications
subfertility: males are almost always infertile due to impaired spermatogenesis. Females are usually subfertile, and have an increased incidence of problems with pregnancy and labour
learning difficulties
short stature
repeated respiratory infections (+hearing impairment from glue ear)
acute lymphoblastic leukaemia
hypothyroidism
Alzheimer’s disease
atlantoaxial instability
Duchenne muscular dystrophy
an X-linked recessive inherited disorder in the dystrophin genes required for normal muscular function.
Features;
-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
Investigation;
-raised creatinine kinase
-genetic testing has now replaced muscle biopsy as the way to obtain a definitive diagnosis
Management
-is largely supportive as unfortunately there is currently no effective treatment
Prognosis
-most children cannot walk by the age of 12 years
-patients typically survive to around the age of 25-30 years
-associated with dilated cardiomyopathy
Ebstein’s anomaly
Ebstein’s anomaly is a congenital heart defect characterised by low insertion of the tricuspid valve resulting in a large atrium and small ventricle. It is sometimes referred to as ‘atrialisation’ of the right ventricle.
Ebstein’s anomaly may be caused by exposure to lithium in-utero.
Associations
-patent foramen ovale (PFO) or atrial septal defect (ASD) is seen in at least 80% of patients, resulting in a shunt between the right and left atria
-Wolff-Parkinson White syndrome
Clinical features
-cyanosis
-prominent ‘a’ wave in the distended jugular venous pulse,
-hepatomegaly
-tricuspid regurgitation (pansystolic murmur, worse on inspiration)
-right bundle branch block → widely split S1 and S2
Using emollients
-if a topical steroid is also being used the emollient should be applied first followed by waiting at least 30 minutes before applying the topical steroid
-creams soak into the skin faster than ointments
-emollients can become contaminated with bacteria - fingers should not be inserted into pots (many brands have pump dispensers, or you can use a spatula/spoon)
Epstein’s pearl
A congenital cyst found in the mouth. They are common on the hard palate, but may also be seen on the gums where the parents may mistake it for an erupting tooth. No treatment is generally required as they tend to spontaneously resolve over the course of a few weeks.
Febrile convulsions
Management following a seizure
-children who have had a first seizure OR any features of a complex seizure should be admitted to paediatrics
Prognosis
-the overall risk of further febrile convulsion = 1 in 3. -
-if recurrences, try teaching parents how to use rectal diazepam or buccal midazolam. Parents should be advised to phone for an ambulance if the seizure lasts > 5 minutes
-regular antipyretics have not been shown to reduce the chance of a febrile seizure occurring
Link to epilepsy
-risk factors for developing epilepsy include a family history of epilepsy, having complex febrile seizures and a background of neurodevelopmental disorder
-children with no risk factors have 2.5% risk of developing epilepsy
-if children have all 3 features the risk of developing epilepsy is much higher (e.g. 50%)
Foetal alcohol syndrome
Baby may show symptoms of alcohol withdrawal at birth e.g. irritable, hypotonic, tremors
Features
-short palpebral fissure
-thin vermillion border/hypoplastic upper lip
-smooth/absent filtrum
-learning difficulties
-microcephaly
-growth retardation
-epicanthic folds
-cardiac malformations
Assessment of feverish children
The following should be recorded in all febrile children:
-temperature
-heart rate
-respiratory rate
-capillary refill time
Signs of dehydration (reduced skin turgor, cool extremities etc) should also be looked for
NB- print off feverish illness in children passmedicine
Fragile X syndrome
Features in males
-learning difficulties
-large low set ears, long thin face, high arched palate
-macroorchidism
-hypotonia
-autism is more common
-mitral valve prolapse (“fragile” mitral valve)
Features in females (who have one fragile chromosome and one normal X chromosome) range from normal to mild
Diagnosis
-can be made antenatally by chorionic villus sampling or amniocentesis
-genetic testing
GORD in children
Gastro-oesophageal reflux is the commonest cause of vomiting in infancy. Around 40% of infants regurgitate their feeds to a certain extent so there is a degree of overlap with normal physiological processes.
Risk factors
-preterm delivery
-neurological disorders
Features
-typically develops before 8 weeks
-vomiting/regurgitation following feeds
Diagnosis is usually made clinically
Complications
-distress
-failure to thrive
-aspiration
-frequent otitis media
-in older children dental erosion may occur
Management of GORD in children
Lifestyle- feed child with head up at 30 degrees, sleep on back, don’t overfeed (smaller, more frequent feeds), thicker formulas if bottle-fed
Medical- alginates (Gaviscon, not with thickeners), PPI if severe (see criteria below), rarely metoclopramide
Specialist- refer to paediatrics if unsuccessful (may require surgery)
NB- alginate before PPI. PPI criteria;
-unexplained feeding difficulties (for example, refusing feeds, gagging or choking)
-distressed behaviour
-faltering growth
NB- If there are severe complications (e.g. failure to thrive) and medical treatment is ineffective then fundoplication may be considered
Gastroschisis
A congenital defect in the anterior abdominal wall just lateral to the umbilical cord. The abdominal contents are NOT covered
Management
-vaginal delivery may be attempted
-newborns should go to theatre as soon as possible after delivery, e.g. within 4 hours
Exomphalos (omphalocoele)
the abdominal contents protrude through the anterior abdominal wall but are covered in an amniotic sac formed by amniotic membrane and peritoneum.
Associations
-Beckwith-Wiedemann syndrome
-Down’s syndrome
-cardiac and kidney malformations
Management
-caesarean section is indicated to reduce the risk of sac rupture
-a staged repair may be undertaken as primary closure may be difficult due to lack of space/high intra-abdominal pressure
Growing pains
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
-bilateral symptoms
Growth
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Haemorrhagic disease of the newborn
Newborn babies are relatively deficient in vitamin K. This may result in impaired production of clotting factors which in turn can lead to haemorrhagic disease of the newborn (HDN). Bleeding may range from minor brushing to intracranial haemorrhages
Breast-fed babies are particularly at risk as breast milk is a poor source of vitamin K. Maternal use of antiepileptics also increases the risk
Because of this all newborns in the UK are offered vitamin K, either intramuscularly or orally
Head injury paediatrics
Criteria for immediate request for CT scan of the head (children);
Loss of consciousness lasting more than 5 minutes (witnessed)
Amnesia (antegrade or retrograde) lasting more than 5 minutes
Abnormal drowsiness
Three or more discrete episodes of vomiting
Clinical suspicion of non-accidental injury
Post-traumatic seizure but no history of epilepsy
GCS less than 14, or for a baby under 1 year GCS (paediatric) less than 15, on assessment in the emergency department
Suspicion of open or depressed skull injury or tense fontanelle
Any sign of basal skull fracture (haemotympanum, panda’ eyes, cerebrospinal fluid leakage from the ear or nose, Battle’s sign)
Focal neurological deficit
If under 1 year, presence of bruise, swelling or laceration of more than 5 cm on the head
Dangerous mechanism of injury (high-speed road traffic accident either as pedestrian, cyclist or vehicle occupant, fall from a height of greater than 3 m, high-speed injury from a projectile or an object)
Management of headlice
School exclusion is not advised for children with head lice
fine-toothed combing of wet or dry hair
treatment is only indicated if living lice are found
a choice of treatments should be offered - malathion, wet combing, dimeticone, isopropyl myristate and cyclomethicone
household contacts of patients with head lice do not need to be treated unless they are also affected
Hearing testing in children
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Most common cause of primary headache in children.
Migraine with aura
Hirschsprung’s disease
Caused by an aganglionic segment of bowel due to a developmental failure of the parasympathetic Auerbach and Meissner plexuses.
Risk factors;
-3 times more common in males
-Down’s syndrome
Features;
-neonatal period e.g. failure or delay to pass meconium
-older children: constipation, abdominal distension
Investigations;
-abdominal x-ray
-rectal biopsy: gold standard for diagnosis
Management;
-initially: rectal washouts/bowel irrigation
-definitive management: surgery to affected segment of the colon
NB- Hirschsprung-associated enterocolitis (HAEC) is inflammation and obstruction of the intestine occurring in around 20% of neonates with Hirschsprung’s disease. It typically presents within 2-4 weeks of birth with fever, abdominal distention, diarrhoea (often with blood) and features of sepsis
Hypospadias
a congenital abnormality of the penis
It is usually identified on the newborn baby check. If missed, parents may notice an abnormal urine stream.
Hypospadias most commonly occurs as an isolated disorder. However, associated conditions include cryptorchidism (present in 10%) and inguinal hernia.
Management;
-refer to specialist
-corrective surgery at 12 months (no circumcision prior, may be required in the repair)
NB- in boys with very distal disease, no treatment may be needed.
Hypothyroidism in children
The most common cause of hypothyroidism in children (juvenile hypothyroidism) is autoimmune thyroiditis.
Other causes include
-post total-body irradiation (e.g. in a child previous treated for acute lymphoblastic leukaemia)
-iodine deficiency (the most common cause in the developing world)
Causes of hypotonia
Central causes
-Down’s syndrome
-Prader-Willi syndrome
-hypothyroidism
-cerebral palsy (hypotonia may precede the development of spasticity)
Neurological and muscular problems
-spinal muscular atrophy
-spina bifida
-Guillain-Barre syndrome
-myasthenia gravis
-muscular dystrophy
-myotonic dystrophy
ITP
an immune-mediated reduction in the platelet count.
ITP in children is typically more acute than in adults and may follow an infection or vaccination ( ask about recent URTI)
Features
-bruising
-petechial or purpuric rash
-bleeding is less common and typically presents as epistaxis or gingival bleeding
Investigation;
- FBC (isolated thrombocytopenia)
-blood film
bone marrow examinations is only required if there are atypical features e.g. lymph node enlargement/splenomegaly, high/low white cells
-failure to resolve/respond to treatment
Management;
usually, no treatment
EXCLUDE MENINGITIS (RASH)
advice to avoid activities that may result in trauma (and avoid NSAIDs, aspirin, blood thinners)
other options may be indicated if the platelet count is very low (e.g. < 10 * 109/L) or there is significant bleeding. Options include:
-oral/IV corticosteroid
-IV immunoglobulins
Immunisations/Immunisation schedule
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Infantile colic
Infantile colic describes a relatively common and benign set of symptoms seen in young infants. It typically occurs in infants less than 3 months old and is characterised by bouts of excessive crying and pulling-up of the legs, often worse in the evening.
Innocent murmurs in children
Ejection murmurs- due to turbulent blood flow at the outflow tract of the heart
Venous hums- due to the turbulent blood flow in the great veins returning to the heart. Heard as a continuous blowing noise heard just below the clavicles
Still’s murmur- low-pitched sound heard at the lower left sternal edge
Characteristics of an innocent ejection murmur include:
Soft, Systolic, Short, Symptomless, Standing/Sitting (vary with position), Solitary site (no radiation)
Intussusception
The invagination of one portion of bowel into the lumen of the adjacent bowel, most commonly around the ileo-caecal region. Usually affects infants between 6-18 months old. Boys are affected twice as often as girls
Features;
-paroxysmal abdominal colic pain
-during paroxysm the infant will characteristically draw their knees up and turn pale
-vomiting
-bloodstained stool - ‘red-currant jelly’ - is a late sign
-sausage-shaped mass in the right upper quadrant
Associated conditions:
Concurrent viral illness
Henoch-Schonlein purpura
Cystic fibrosis
Intestinal polyps
Meckel diverticulum
Investigation
-USS is the investigation of choice (target-like mass)
Management;
-the majority of children can be treated with reduction by air insufflation under radiological control, which is now widely used first-line compared to the traditional barium enema
-if this fails, or the child has signs of peritonitis, surgery is performed
Jaundice in newborns
First 24 hours- always pathological
Causes of jaundice in the first 24 hrs
-rhesus haemolytic disease
-ABO haemolytic disease
-hereditary spherocytosis
-glucose-6-phosphodehydrogenase (G6PD)
2-14 days
Jaundice in the neonate from 2-14 days is common (up to 40%) and usually physiological. It is due to a combination of factors, including more red blood cells, more fragile red blood cells and less developed liver function. More common if breastfed
14 days + (prolonged)
If there are still signs of jaundice after 14 days (21 days if premature) a prolonged jaundice screen is performed, including:
-conjugated and unconjugated bilirubin: the most important test as a raised conjugated bilirubin could indicate biliary atresia which requires urgent surgical intervention
-direct antiglobulin test (Coombs’ test)
-TFTs
-FBC and blood film
-urine for MC&S and reducing sugars
-U&Es and LFTs
Causes of prolonged jaundice;
-biliary atresia
-hypothyroidism
-galactosaemia
-urinary tract infection
-breast milk jaundice
-prematurity
-congenital infections e.g. CMV, toxoplasmosis
Juvenile idiopathic arthritis
describes arthritis occurring in someone who is less than 16 years old that lasts for more than 6 weeks
Pauciarticular JIA refers to cases where 4 or less joints are affected. It accounts for around 60% of cases of JIA
Features of pauciarticular JIA
-joint pain and swelling: usually medium sized joints e.g. knees, ankles, elbows
-limp
-ANA may be positive in JIA - associated with anterior uveitis
Systemic onset JIA is a type of JIA which is also known as Still’s disease
Features of systemic onset JIA include
-pyrexia
-salmon-pink rash
-lymphadenopathy
-arthritis
-uveitis
-anorexia and weight loss
Investigations
-ANA may be positive, especially in oligoarticular JIA
-rheumatoid factor is usually negative
Kawasaki disease
a type of vasculitis which is predominately seen in children.
Features
-high-grade fever which lasts for > 5 days. Fever is characteristically resistant to antipyretics
-conjunctival injection
-bright red, cracked lips
-strawberry tongue
-cervical lymphadenopathy
-red palms of the hands and the soles of the feet which later peel
Clinical diagnosis
Management
-high-dose aspirin (one of the few indications for the use of aspirin in children. Due to the risk of Reye’s syndrome aspirin is normally contraindicated in children)
-intravenous immunoglobulin
-echocardiogram (rather than angiography) is used as the initial screening test for coronary artery aneurysms
Complications
-coronary artery aneurysm
Knee problems: children and young adults
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Limping child
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McCune-Albright syndrome
Features
-precocious puberty
-cafe-au-lait spots
-polyostotic fibrous dysplasia
-short stature
Measles
Features
-prodromal phase
-irritable
-conjunctivitis
-fever
-Koplik spots (white spots (‘grain of salt’) on the buccal mucosa)
-rash (starts behind ears then to the whole body
discrete maculopapular rash becoming blotchy & confluent)- think M for Mastoid (&Measles- that’s where it starts)
-desquamation that typically spares the palms and soles may occur after a week
-diarrhoea occurs in around 10% of patients
Management
-mainly supportive
-admission may be considered in immunosuppressed or pregnant patients
-notifiable disease → inform public health
Complications
-otitis media: the most common complication
-pneumonia: the most common cause of death
-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
-keratoconjunctivitis, corneal ulceration
-diarrhoea
-increased incidence of appendicitis
-myocarditis
Osgood-Schlatter disease
Osgood-Schlatter disease (tibial apophysitis) is a type of osteochondrosis characterised by inflammation at the tibial tuberosity. It is a traction apophysitis thought to be caused by repeated avulsion of the apophysis into which the patellar tendon is inserted
Management is supportive
Paediatric BLS
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Paediatric gastrointestinal disorders
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Paediatric orthopaedic disorders
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Paediatric umbilical disorders
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Patent ductus arteriosus
usually, the ductus arteriosus closes with the first breaths due to increased pulmonary flow which enhances prostaglandins clearance
Features
-left subclavicular thrill
-continuous ‘machinery’ murmur
-large volume, bounding, collapsing pulse
-wide pulse pressure
-heaving apex beat
Management
-indomethacin or ibuprofen to close PDA
-if associated with another congenital heart defect amenable to surgery then prostaglandin E1 is useful to keep the duct open until after surgical repair
Patent ductus arteriosus
usually, the ductus arteriosus closes with the first breaths due to increased pulmonary flow which enhances prostaglandins clearance
Features
-left subclavicular thrill
-continuous ‘machinery’ murmur
-large volume, bounding, collapsing pulse
-wide pulse pressure
-heaving apex beat
Management
-indomethacin or ibuprofen
-if associated with another congenital heart defect amenable to surgery then prostaglandin E1 is useful to keep the duct open until after surgical repair
Perthe’s disease
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, specifically the femoral epiphysis. Perthes’ disease is 5 times more common in boys. Around 10% of cases are bilateral
Features
-hip pain: develops progressively over a few weeks
limp (chronic, not acute)
-stiffness and reduced range of hip movement
-x-ray: early changes include widening of joint space, -later changes include decreased femoral head size/flattening
NB- hyperactivity and short stature are associated
Diagnosis
-plain x-ray
-technetium bone scan or magnetic resonance imaging if normal x-ray and symptoms persist
Complications
-osteoarthritis
-premature fusion of the growth plates
NB- Catterall staging
Management
-To keep the femoral head within the acetabulum: cast, braces
-If less than 6 years: observation
-Older: surgical management with moderate results
-Operate on severe deformities
Prognosis
-Most cases will resolve with conservative management. Early diagnosis improves outcomes. Make sure to exclude SA (hip pain and fever in child- refer urgently)
Phenylketonuria (PKU)
Features
-usually presents by 6 months e.g. with developmental delay
-child classically has fair hair and blue eyes
-learning difficulties
-seizures, typically infantile spasms
-eczema
-‘musty’ odour to urine and sweat*
Pneumonia in children
S .pneumoniae is the most likely causative agent of a bacterial pneumonia in children
Management;
-Amoxicillin is first-line for all children with pneumonia
-Macrolides (erythro/clarithromycin) may be added if there is no response to first line therapy (should be used if mycoplasma or chlamydia is suspected)
-In pneumonia associated with influenza, co-amoxiclav is recommended
Prader-willi syndrome
Features
-hypotonia during infancy
-dysmorphic features
-short stature
-hypogonadism and infertility
-learning difficulties
-childhood obesity
-behavioural problems in adolescence
-Constant insatiable hunger that leads to obesity
Management;
Supportive- limit access to food, dieticians, occupational therapists, special educators
Medical- GH (improves muscle development and body composition)
Pre-school wheeze in children
Usually viral induced (commonly RSV or rhinovirus)
Other causes of wheeze;
-asthma, bronchiolitis, FBA, CF, laryngomalacia, mediastinal mass
Parents who are smokers should be strongly encouraged to stop.
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
NB- if severe, senior review, and very similar to asthma ladder treatment
NB- Neither viral-induced wheeze or asthma cause a focal wheeze (they are usually widespread). If you hear a focal wheeze be very cautious and investigate further for a focal airway obstruction such as an inhaled foreign body or tumour. These patients will require an urgent senior review.
Precocious puberty
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Primitive reflexes
Moro
Head extension causes abduction followed by adduction of the arms
Present from birth to around 3-4 months of age
Grasp
Flexion of fingers when object placed in palm
Present from birth to around 4-5 months of age
Rooting
Assists in breastfeeding
Stroke cheek and they turn head in that direction and start sucking
Present from birth to around 4 months of age
Stepping
Also known as walking reflex
When child is held up and heels touch surface, legs will start marching
Present from birth to around 2 months of age
Puberty
Males
-first sign is testicular growth at around 12 years of age (range = 10-15 years)
-testicular volume > 4 ml indicates onset of puberty
-maximum height spurt at 14
Females
-first sign is breast development at around 11.5 years of age (range = 9-13 years)
-height spurt reaches its maximum early in puberty (at 12) , before menarche
-menarche at 13 (11-15)
-there is an increase of only about 4% of height following menarche
Normal changes in puberty
-gynaecomastia may develop in boys
-asymmetrical breast growth may occur in girls
-diffuse enlargement of the thyroid gland may be seen
Pulmonary hypoplasia
Pulmonary hypoplasia is a term used for newborn infants with underdeveloped lungs
Causes include
-oligohydramnios (eg. due to renal agenesis)
-congenital diaphragmatic hernia
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
-‘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
Diagnosis- USS
Management- Ramstedt pyloromyotomy.
Reflex anoxic seizures
describes a syncopal episode (or presyncope) that occurs in response to pain or emotional stimuli. It is thought to be caused by neurally-mediated transient asystole in children with very sensitive vagal cardiac reflexes. It typically occurs in young children aged 6 months to 3 years
Typical features;
-child goes very pale
-falls to floor
-secondary anoxic seizures are common
-rapid recovery
There is no specific treatment and prognosis is excellent
