paeds Flashcards
Paediatric basic life support - algorithm
unresponsive? shout for help open airway look, listen, feel for breathing give 5 rescue breaths check for signs of circulation 15 chest compressions:2 rescue breaths
compression:ventilation ratio: lay rescuers should use a ratio of 30:2. If there are two or more rescuers with a duty to respond then a ratio of 15:2 should be used
age definitions: an infant is a child under 1 year, a child is between 1 year and puberty
What score if used to assess the health of a new-born baby?
Apgar score
A score of 0-3 is very low score, between 4-6 is moderate low and between 7 - 10 means the baby is in a good state
In a newborn who hasn’t cried irate when should you airway suction? What could happen if you do?
Airway suction should not be performed unless there is obviously thick meconium causing obstruction, as it can cause reflex bradycardia in babies.
When should CPR be performed on a newborn who hasn’t cried?
CPR should only be commenced at a HR < 60bpm.
How to reduce risk of getting chest infections in a CF patient?
Patients with cystic fibrosis should minimise contact with each other due to the risk of cross-infection
CF management
Management of cystic fibrosis (CF) involves a multidisciplinary approach
Key points
- regular (at least twice daily) chest physiotherapy and postural drainage. Parents are usually taught to do this. Deep breathing exercises are also useful
- high calorie diet, including high fat intake
- patients with CF should try to minimise contact with each other to prevent cross infection with Burkholderia cepacia complex and Pseudomonas aeruginosa
- vitamin supplementation
- pancreatic enzyme supplements taken with meals
- heart and lung transplant
Lumacaftor/Ivacaftor (Orkambi)
- is used to treat cystic fibrosis patients who are homozygous for the delta F508 mutation
- lumacaftor increases the number of CFTR proteins that are transported to the cell surface
- ivacaftor is a potentiator of CFTR that is already at the cell surface, increasing the probability that the defective channel will be open and allow chloride ions to pass through the channel pore
What causes chronic diarrhoea in infants?
- most common cause in the developed world is cows’ milk intolerance
- toddler diarrhoea: stools vary in consistency, often contain undigested food
- coeliac disease
- post-gastroenteritis lactose intolerance
Gastroenteritis in children
Gastroenteritis
- diarrhoea
- 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
What is a common complication of viral gastroenteritis?
Transient lactose intolerance is a common complication of viral gastroenteritis
What is the most common cause of inherited neurodevelopment delay?
Fragile X syndrome
Fragile X syndrome - features and diagnosis
Fragile X syndrome is a trinucleotide repeat disorder.
Inherited in an autosomal dominant fashion
Features in males
- learning difficulties
- large low set ears, long thin face, high arched palate
- macroorchidism (abnormally large testes)
- hypotonia - joint laxity
- learning difficulties - autism is more common, and ADHD
- mitral valve prolapse
- past history of recurrent otitis media
Features in females (who have one fragile chromosome and one normal X chromosome) range from normal to mild
Diagnosis
- Fragile X syndrome tends to present around the time of puberty.
- can be made antenatally by chorionic villus sampling or amniocentesis
- analysis of the number of CGG repeats using restriction endonuclease digestion and Southern blot analysis
What is Cow’s milk protein intolerance/allergy? features and diagnosis
Cow’s milk protein intolerance/allergy (CMPI/CMPA) occurs in around 3-6% of all children and typically presents in the first 3 months of life in FORMULA-FED infants, although rarely it is seen in exclusively breastfed infants.
Both immediate (IgE mediated) and delayed (non-IgE mediated) reactions are seen. The term CMPA is usually used for immediate reactions and CMPI for mild-moderate delayed reactions.
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
Cow’s milk protein intolerance/allergy- Management
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
- around 10% of infants are also intolerant to soya milk
Management if breastfed
- continue breastfeeding
- eliminate cow’s milk protein from maternal diet. Consider prescribing calcium supplements for breastfeeding mothers whose babies have, or are suspected to have, CMPI, to prevent deficiency whilst they exclude dairy from their diet
- use eHF milk when breastfeeding stops, until 12 months of age and at least for 6 months
CMPI usually resolves in most children
- in children with IgE mediated intolerance around 55% will be milk tolerant by the age of 5 years
- in children with non-IgE mediated intolerance most children will be milk tolerant by the age of 3 years
- a challenge is often performed in the hospital setting as anaphylaxis can occur.
Pyloric stenosis
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.
Epidemiology incidence of 4 per 1,000 live births 4 times more common in males 10-15% of infants have a positive family history first-borns are more commonly affected
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 is most commonly made by ultrasound.
Management is with Ramstedt pyloromyotomy.
What is the commonest cyanotic congenital heart condition after birth?
Tetralogy of Fallot (TOF)
-a few weeks to months after birth
Tetralogy of Fallot
It typically presents at around 1-2 months, although may not be picked up until the baby is 6 months old
TOF is a result of anterior malalignment of the aorticopulmonary septum. The four characteristic features are:
- ventricular septal defect (VSD)
- right ventricular hypertrophy
- right ventricular outflow tract obstruction, pulmonary stenosis
- overriding aorta
The severity of the right ventricular outflow tract obstruction determines the degree of cyanosis and clinical severity
Other features
- cyanosis - hypercyanotic spells with episodic, increasing cyanosis which typically occurs when the baby is crying and breathing deeply and rapidly
- causes a right-to-left shunt
- ejection systolic murmur due to pulmonary stenosis (the VSD doesn’t usually cause a murmur)
- a right-sided aortic arch is seen in 25% of patients
- chest x-ray shows a ‘boot-shaped’ heart, ECG shows right ventricular hypertrophy
Management
- surgical repair is often undertaken in two parts
- cyanotic episodes may be helped by beta-blockers to reduce infundibular spasm
right parasternal heave reflects what?
right ventricular hypertrophy
Biliary atresia - types, signs, investigations, management, complications
Biliary atresia is a paediatric condition involving either obliteration or discontinuity within the extrahepatic biliary system, which results in an OBSTRUCTION IN FLOW OF BILE. This results in a neonatal presentation of CHOLESTASIS in the first few weeks of life. The pathogenesis of biliary atresia is unclear, however, infectious agents, congenital malformations and retained toxins within the bile are all contributing factors.
Epidemiology
- Extrahepatic biliary atresia is more common in females than males
- Biliary atresia is unique to neonatal children: The perinatal form presents in the first two weeks of life, and the postnatal form presents within the first 2-8 weeks of life
- Biliary atresia occurs in 1 in every 10,000-15,000 live births
Types:
- Type 1: The proximal ducts are patent, however, the common duct is obliterated
- Type 2: There is atresia of the cystic duct and cystic structures are found in the porta hepatis
- Type 3: There is atresia of the left and right ducts to the level of the porta hepatis, this occurs in >90% of cases of biliary atresia
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
Signs:
- Jaundice (present > 14 days of age)
- Hepatomegaly with splenomegaly
- Abnormal growth
- Cardiac murmurs if associated cardiac abnormalities present
Investigations:
- Serum bilirubin including differentiation into conjugated and total bilirubin: Total bilirubin may be normal, whereas conjugated bilirubin is abnormally high
- Liver function tests (LFTs) including serum bile acids and aminotransferases are usually raised but cannot differentiate between biliary atresia and other causes of neonatal cholestasis
- Serum alpha 1-antitrypsin: Deficiency may be a cause of neonatal cholestasis
- Sweat chloride test: Cystic fibrosis often involves the biliary tract
- Ultrasound of the biliary tree and liver: May show distension and tract abnormalities
- Percutaneous liver biopsy with intraoperative cholangioscopy
Management: - Surgical intervention is the only definitive treatment for biliary atresia: Intervention may include dissection of the abnormalities into distinct ducts and anastomosis creation A hepatoportoenterostomy (HPE) can be performed. This is also known as Kasai portoenterostomy and it allows bile drainage - Medical intervention includes antibiotic coverage and bile acid enhancers following surgery Ursodeoxycholic acid may be given as an adjuvant following surgical intervention
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
What is roseola infantum and the features?
COMMON VIRAL ILLNESS Roseola infantum (also known as exanthem subitum, occasionally sixth disease) is a common disease of infancy caused by the human HERPES virus 6 (HHV6). It has an incubation period of 5-15 days and typically affects children aged 6 months to 2 years.
Features:
- high fever: lasting a few days (3 days), followed later by a maculopapular rash (4th day, - typically starts on the trunk and limbs- which is different to chickenpox which is usually central), following the resolution of the fever (the fever is typically rapid onset and can often predispose to febrile convulsions)
- Nagayama spots: papular enanthem on the uvula and soft palate
rash appears erythematous with small bumps that are merging together.
- febrile convulsions occur in around 10-15%
- diarrhoea and cough are also commonly seen
What are possible complications of HHV6 infection?
Aseptic meningitis
Hepatitis
What can biliary atresia lead to if left untreated?
liver failure and death if left untreated, caused by fibrous obstruction of the extra-hepatic biliary tree
What are the pertinent blood tests findings in biliary atresia?
Raised conjugated bilirubin, and can also show deranged liver function tests with elevated GGT more prominent than AST or ALT.
What are growing pains and what are the features?
A common presentation in General Practice is a child complaining of pain in the legs with no obvious cause. Such presentations, in the absence of any worrying features, are often attributed to ‘growing pains’. This is a misnomer as the pains are often not related to growth - the current term used in rheumatology is ‘benign idiopathic nocturnal limb pains of childhood’
Growing pains are equally common in boys and girls and occur in the age range of 3-12 years.
Features of growing pains - never present at the start of the day after the child has woken - no limp - no limitation of physical activity systemically well - normal physical examination - motor milestones normal - symptoms are often intermittent and worse after a day of vigorous activity
Meningitis B vaccine
Children in the UK have been routinely immunised against serotypes A & C of meningococcus for many years. As a result meningococcal B became the most common cause of bacterial meningitis in the UK. A vaccination against meningococcal B (Bexsero) has recently been developed and introduced to the UK market.
The Joint Committee on Vaccination and Immunisation (JCVI) initially rejected the use of Bexsero after doing a cost-benefit analysis. This descision was eventually reversed and meningitis B has now been added to the routine NHS immunisation.
Three doses are now given at:
2 months
4 months
12-13 months
If given outside of the schedule, doses should be at least 2 months apart. When given in children over the age of one, only two doses are required.
Bexsero will also be available on the NHS for patients at high risk of meningococcal disease, such as people with asplenia, splenic dysfunction or complement disorder.
Juvenile idiopathic arthritis: pauciarticular - features?
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 (most common type of JIA)
- joint PAIN, stiffness and swelling: usually medium sized joints (larger joints) e.g. knees, ankles, elbows
- limp
- fatigue
- associated symptoms may include rash, fever, dry or gritty eyes
- Family history of autoimmune disease (e.g.SLE) is a risk factor.
- ANA may be positive in JIA - associated with anterior uveitis
- have normal blood results
Features of systemic-onset juvenile idiopathic arthritis
- Often anaemia, thrombocytosis, and leucocytosis
- High spiking fevers-there must be 1 or 2 spikes of fever a day occurring daily for at least 2 weeks
- Non-pruritic salmon coloured erythematous rashes are common also, usually on the trunk and proximal extremities -The rash often co-occurs with the fever.
What is slipped capital femoral epiphysis? features, ix , mx
Slipped capital femoral epiphysis is rare HIP condition seen in children, classically seen in OBESE BOYS. It is also is known as slipped upper femoral epiphysis.
Basics
- typically age group is 10-15 years
- More common in obese children and boys
- Displacement of the femoral head epiphysis postero-inferiorly
- May present acutely following trauma or more commonly with chronic, persistent symptoms
Features
- hip, groin, medial thigh or knee pain
- loss of INTERNAL ROTATION of the leg in flexion
- bilateral slip in 20% of cases
Investigation
- AP and lateral (typically frog-leg) views are diagnostic
Management
- internal fixation: typically a single cannulated screw placed in the center of the epiphysis
What are the key features of William’s syndrome?
- Short stature
- Learning difficulties
- characteristic like affect -Friendly, extrovert personality
- Transient neonatal hypercalcaemia
- Supravalvular aortic stenosis
Associated with elfin facies
What are the key features of Edward’s syndrome (trisomy 18)
Micrognathia ( lower jaw is undersized)
Low-set ears
Rocker bottom feet
Overlapping of fingers
What is an umbilical granuloma?
- An overgrowth of tissue which occurs during the healing process of the umbilicus.
- It is most common in the first few weeks of life.
- On examination, a small, red growth of tissue is seen in the centre of the umbilicus.
- It is usually wet and leaks small amounts of clear or yellow fluid.
- It is treated by regular application of salt to the wound, if this does not help then the granuloma can be cauterised with silver nitrate.
What is Omphalitis?
- This condition consists of an infection of the umbilicus.
- Infection with Staphylococcus aureus is the commonest cause.
- The condition is potentially serious as infection may spread rapidly through the umbilical vessels in neonates with a risk of portal pyaemia (collection of pus in the portal venous system due to inflammation), and portal vein thrombosis.
- Treatment is usually with a combination of topical and systemic antibiotics.
What is a persistent vitello-intestinal duct?
- This will typically present as an umbilical discharge that discharges SMALL BOWEL CONTENT.
- Complete persistence of the duct is a rare condition.
- Much more common is the persistence of part of the duct (Meckel’s diverticulum).
- Persistent vitello-intestinal ducts are best imaged using a contrast study to delineate the anatomy and are managed by laparotomy and surgical closure.
What are the developmental milestones at 3 months?
- Little or no head lag on being pulled to sit
- Lying on abdomen, good head control
- Held sitting, lumbar curve
- Reaches for object
- Holds rattle briefly if given to hand
- Visually alert, particularly human faces
- Fixes and follows to 180 degrees
What are the developmental milestones at 6 months?
- Lying on abdomen, arms extended
- Lying on back, lifts and grasps feet
- Pulls self to sitting
- Held sitting, back straight
- Rolls front to back
- Holds in palmar grasp
- Pass objects from one hand to another
- Visually insatiable, looking around in every direction
What are the developmental milestones at 7-8 months?
Sits without support
What are the developmental milestones at 9 months?
- Pulls to standing
- Crawls
- Points with finger
- Early pincer
What are the developmental milestones at 12 months?
Cruises
Walks with one hand held
Good pincer grip
Bangs toys together
What are the developmental milestones at 13-15 months?
Walks unsupported
(15 months) - makes a tower of 2
(15 months)- looks at book, pats page
What are the developmental milestones at 18 months?
Squats to pick up toy
Drawing - circular scribble
Book - turns pages, several at time
What are the developmental milestones at 2 years?
Runs Walks upstairs and downstairs holding on to rail Makes a tower of 6 Drawing - copies vertical line Book - turns pages, one at a time
What are the developmental milestones at 3 years?
Rides a tricycle using pedals
Walks up stairs without holding on to rail
Makes a tower of 9
Drawing - copies circle
What are the developmental milestones at 4 years?
Hops on one leg
Drawing - copies cross
What is breech presentation put a baby at risk of?
Developmental dysplasia of the hip
The Department of Health advises that all babies that were breech at any point from 36 weeks (even if not breech by time of delivery), babies born before 36 weeks who had breech presentation, and all babies with a first degree relative with a hip problem in early life, should be referred for ultrasound of the hips.
What are risk factors for developmental dysplasia of the hip?
- female sex: 6 times greater risk
- breech presentation
- positive family history
- firstborn children
- oligohydramnios
- birth weight > 5 kg
- congenital calcaneovalgus foot deformity
What is screening for developmental dysplasia of the hip?
(usually detected in neonates)
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
All infants are screened at both the newborn check and also the six-week baby check using the Barlow and Ortolani tests
What would you find on clinical examination of developmental dysplasia of the hip and what is the management?
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
Ultrasound is used to confirm the diagnosis if clinically suspected
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
What is Turner’s syndrome and its features?
Turner’s syndrome is a chromosomal disorder affecting around 1 in 2,500 FEMALES. It is caused by either the presence of only one sex chromosome (X) or a deletion of the short arm of one of the X chromosomes. Turner’s syndrome is denoted as 45,XO or 45,X.
Features
- short stature
- shield chest, widely spaced nipples
- WEBBED NECK
- bicuspid aortic valve (15%), coarctation of the aorta (5-10%)
- primary amenorrhoea
- cystic hygroma (often diagnosed prenatally)
- high-arched palate
- short fourth metacarpal
- multiple pigmented naevi
- lymphoedema in neonates (especially feet)
- gonadotrophin levels will be elevated
- hypothyroidism is much more common in Turner’s
- horseshoe kidney: the most common renal abnormality in Turner’s syndrome
What is Turner’s syndrome associated with?
- Bicuspid aortic valve and aortic coarctation
- There is also an increased incidence of autoimmune disease (especially autoimmune thyroiditis) and Crohn’s disease
Name some causes of constipation?
- idiopathic
- dehydration
- low-fibre diet
- medications: e.g. Opiates
- anal fissure
- over-enthusiastic potty training
- hypothyroidism
- Hirschsprung’s disease
- hypercalcaemia
- learning disabilities
What is the first line for constipation?
Advice on diet/fluid intake
MOVICOL paediatric plain
What are the red flags in constipation?
- Reported from birth or first few weeks of life
- Passage of meconium >48 hours
- ‘ribbon’ stools
- Previously unknown or undiagnosed weakness in legs, locomotor delay
- distended abdomen
AMBER signs:
- Faltering growth
- Disclosure or evidence that raises concerns over possibility of child maltreatment
Management of constipation - If faecal impaction is present:
- movicol paediatric plain (1st line)
- Add Stimulant laxative if disimpaction not occurred in 2 weeks
- substitute a stimulant laxative singly or in combination with an osmotic laxative such as lactulose if Movicol Paediatric Plain is not tolerated
- inform families that disimpaction treatment can initially increase symptoms of soiling and abdominal pain
Management of constipation – maintenance therapy
very similar to the faecal impaction regime, with obvious adjustments to the starting dose, i.e.
- first-line: Movicol Paediatric Plain
- add a stimulant laxative if no response
- substitute a stimulant laxative if Movicol Paediatric Plain is not tolerated. Add another laxative such as lactulose or docusate if stools are hard
- continue medication at maintenance dose for several weeks after regular bowel habit is established, then reduce dose gradually
For children aged 5 to 16 - what is given to if asthma is not being controlled by SABA + low dose ICS?
Leukotriene receptor antagonist
Management of asthma for children and young aged 5 to 16 (BTS)
- SABA
- SABA + low dose inhaled corticosteroid (ICS)
- SABA + paediatric low-dose ICS + leukotriene receptor antagonist (LTRA)
- SABA + paediatric low-dose ICS + long-acting beta agonist (LABA)
- SABA + switch ICS/LABA for a maintenance and reliever therapy (MART), that includes a paediatric low-dose ICS
- SABA + paediatric moderate-dose ICS MART
OR consider changing back to a fixed-dose of a moderate-dose ICS and a separate LABA - SABA + one of the following options:
increase ICS to paediatric high-dose, either as part of a fixed-dose regime or as a MART (maintenance and reliever therapy)
a trial of an additional drug (for example theophylline)
seeking advice from a healthcare professional with expertise in asthma
Management of asthma for children aged less than 5
- SABA
- SABA + an 8-week trial of paediatric MODERATE-dose inhaled corticosteroid (ICS)
After 8-weeks stop the ICS and monitor the child’s symptoms:
if symptoms did not resolve during the trial period, review whether an alternative diagnosis is likely
if symptoms resolved then reoccurred within 4 weeks of stopping ICS treatment, restart the ICS at a paediatric low dose as first-line maintenance therapy
if symptoms resolved but reoccurred beyond 4 weeks after stopping ICS treatment, repeat the 8‑week trial of a paediatric moderate dose of ICS
3. SABA + paediatric low-dose ICS + leukotriene receptor antagonist (LTRA)
4. Stop the LTRA and refer to an paediatric asthma specialist
What is MART? (asthma)
Maintenance and reliever therapy (MART)
- a form of combined ICS and LABA treatment in which a single inhaler, containing both ICS and a fast-acting LABA, is used for both daily maintenance therapy and the relief of symptoms as required
- MART is only available for ICS and LABA combinations in which the LABA has a fast-acting component (for example, formoterol)
It should be noted that NICE does not advocate changing treatment in patients who have well-controlled asthma simply to adhere to the latest guidance.
Croup- what is it, features, management
Croup is a form of upper respiratory tract infection seen in infants and toddlers. It is characterised by stridor which is caused by a combination of laryngeal oedema and secretions. Parainfluenza viruses account for the majority of cases.
Epidemiology:
- peak incidence at 6 months - 3 years
- more common in autumn
Features:
- stridor
- barking cough (worse at night)
- fever
- coryzal symptoms
- 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
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)
Management
- CKS recommend giving a single dose of oral DEXAMETASONE (0.15mg/kg) to all children regardless of severity
- prednisolone is an alternative if dexamethasone is not available
Emergency treatment
- high-flow oxygen
- nebulised adrenaline
Newborn resuscitation - what is the compressions to ventilation breaths ratio?
3:1
What is Osteochondritis dissecans?
- chronic knee problem
- Pain after exercise
- Intermittent swelling and locking
What most commonly causes acute epiglottis?
Haemophilus influenzae type B
What are lesser common causes of acute epiglottis?
Streptococcus pyogenes and Streptococcus pneumoniae.
What are the features of acute epiglottitis?
rapid onset
high temperature, generally unwell
stridor
drooling of saliva
What causes croup?
Parainfluenza
What causes bronchiolitis?
RSV
Developmental milestones - to run?
16 months - 2 years
Developmental milestones - sits without support, with a straight back
7-8 months
A young boy with learning difficulties, macrocephaly, large ears and macro-orchidism?
Fragile X
What is intussusception features how does it present? investigations How to treat?
Intussusception describes the invagination of one portion of bowel into the lumen of the adjacent bowel (telescoping bowel), most commonly proximal or at the level of the ileo-caecal region.
Intussusception usually affects infants between 6-18 months old. Boys are affected twice as often as girls
Features:
- paroxysmal abdominal colic pain (colicky 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
Investigations:
ultrasound is now the investigation of choice and may show a 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
What is Hirschsprung’s disease? And how to treat?
Is caused by absence of ganglion cells (aganglionic segment of bowel) from myenteric and submucosal plexuses. Occurs in 1/5000 births (rare).
It is an important DD in childhood CONSTIPATION.
Possible presentations:
Hirschsprungs may present either with features of bowel obstruction in:
1. the neonatal period e.g. failure or delay to pass meconium
2. More insidiously during childhood. - constipation, abdominal distention
- After the PR there may be an improvement in symptoms.
- Full-thickness rectal biopsy for diagnosis
- Treatment is with rectal washouts initially
- After that an anorectal pull through procedure
What is commonly associated with malrotation?
Exomphalos
Diaphragmatic herniae
What is malrotation and how to treat?
- High caecum at the midline
- Feature in exomphalos, congenital diaphragmatic hernia, intrinsic duodenal atresia
- May be complicated by the development of volvulus, an infant with volvulus may have bile stained vomiting
- Diagnosis is made by upper GI contrast study and USS
- Treatment is by laparotomy, if volvulus is present (or at high risk of occurring then a Ladd’s procedure is performed
What is meconium ileus? How to treat?
- Usually delayed passage of meconium and abdominal distension
- The majority have cystic fibrosis
- X-Rays will not show a fluid level as the meconium is viscid, PR contrast studies may dislodge meconium plugs and be therapeutic
- Infants who do not respond to PR contrast and NG N-acetyl cysteine will require surgery to remove the plugs
What is necrotising enterocolitis? Tx?
- Prematurity is the main risk factor
- Early features include abdominal distension and passage of bloody stools
- X-Rays may show pneumatosis intestinalis and evidence of free air
- Increased risk when empirical antibiotics are given to infants beyond 5 days
- Treatment is with total gut rest and TPN, babies with perforations will require laparotomy
What are features and associations of oesophageal atresia?
- Associated with tracheo-oesophageal fistula and polyhydramnios
- May present with choking and cyanotic spells following aspiration
- VACTERL associations (VACTERL association is a disorder that affects many body systems. VACTERL stands for vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.)
What is the initial Mx fro Hirschsprung’s disease?
Rectal washouts/bowel irrigation (to allow the baby to pass meconium”)
What is Hirschsprung’s disease associated with?
Males
Down’s syndrome
Meckel’s diverticulum : pathophysiology, presentation, management
Pathophysiology:
- normally, in the foetus, there is an attachment between the vitellointestinal duct and the yolk sac. This disappears at 6 weeks gestation
- the tip is free in the majority of cases
- associated with enterocystomas, umbilical sinuses, and omphaloileal fistulas.
- arterial supply: omphalomesenteric artery.
- typically lined by ileal mucosa but ectopic gastric mucosa can occur, with the risk of peptic ulceration. Pancreatic and jejunal mucosa can also occur.
Meckel’s diverticulum is a congenital diverticulum of the small intestine. It is a remnant of the omphalomesenteric duct (also called the vitellointestinal duct) and contains ectopic ileal, gastric or pancreatic mucosa
Rule of 2s
occurs in 2% of the population
is 2 feet from the ileocaecal valve
is 2 inches long
Presentation (usually asymptomatic)
- abdominal pain mimicking appendicitis
- rectal bleeding: Meckel’s diverticulum is the most common cause of painless massive GI bleeding requiring a transfusion in children between the ages of 1 and 2 years
- intestinal obstruction
secondary to an omphalomesenteric band (most commonly), volvulus and intussusception
Management:
- removal if narrow neck or symptomatic. Options are between wedge excision or formal small bowel resection and anastomosis.
Urinary tract infection in children: features, diagnosis and management
Urinary tract infections (UTI) are more common in boys until 3 months of age (due to more congenital abnormalities) after which the incidence is substantially higher in girls. At least 8% of girls and 2% of boys will have a UTI in childhood
Presentation in childhood depends on age:
- infants: poor feeding, vomiting, irritability
- younger children: abdominal pain, fever, dysuria
- older children: dysuria, frequency, haematuria
- features which may suggest an upper UTI include: temperature > 38ºC, loin pain/tenderness
NICE guidelines for checking urine sample in a child
- if there are any symptoms or signs suggestive or a UTI
- with unexplained fever of 38°C or higher (test urine after 24 hours at the latest)
- with an alternative site of infection but who remain unwell (consider urine test after 24 hours at the latest)
Urine collection method:
- clean catch is preferable
- if not possible then urine collection pads should be used
- cotton wool balls, gauze and sanitary towels are not suitable
- invasive methods such as suprapubic aspiration should only be used if non-invasive methods are not possible
Management
- infants LESS THAN 3 MONTHS OLD SHOULD BE REFERRED IMMEDIATELY TO A PAEDIATRICIAN
- children aged more than 3 months old with an upper UTI should be considered for admission to hospital. If not admitted oral antibiotics such as cephalosporin or co-amoxiclav should be given for 7-10 days
- children aged more than 3 months old with a lower UTI should be treated with oral antibiotics for 3 days according to local guidelines, usually trimethoprim, nitrofurantoin, cephalosporin or amoxicillin. Parents should be asked to bring the children back if they remain unwell after 24-48 hours
- antibiotic prophylaxis is not given after the first UTI but should be considered with recurrent UTIs
Nocturnal enuresis
The majority of children achieve day and night time continence by 3 or 4 years of age.
Enuresis may be defined as the ‘involuntary discharge of urine by day or night or both, in a child aged 5 years or older, in the absence of congenital or acquired defects of the nervous system or urinary tract’
Nocturnal enuresis can be defined as either primary (the child has never achieved continence) or secondary (the child has been dry for at least 6 months before)
Management:
- look for possible underlying causes/triggers (e.g. Constipation, diabetes mellitus, UTI if recent onset)
- advise on fluid intake, diet and toileting behaviour
reward systems (e.g. Star charts). NICE recommend these ‘should be given for agreed behaviour rather than dry nights’ e.g. Using the toilet to pass urine before sleep
- NICE advises: ‘Consider whether an alarm or drug treatment is appropriate, depending on the age, maturity and abilities of the child or young person, the frequency of bedwetting and the motivation and needs of the family’.
Generally:
- an enuresis alarm is first-line for children under the age of 7 years
- desmopressin may be used first-line for children over the age 7 years, particularly if short-term control is needed or an enuresis alarm has been ineffective/is not acceptable to the family
consent - when can they refuse?
‘those over 16 can consent to treatment, but cannot refuse treatment under 18 unless there is one consenting parent, even if the other disagrees’.
What murmur is associated with Turner’s syndrome? Why?
Ejection systolic murmur - due to bicuspid aortic valve, aortic valve stenosis and/or aortic coarctation - those with Turner’s are prone to have these
(Loudest over the aortic valve)
How are new-born babies hearing screened?
Automated otoacoustic emission test/ evoked otoacoustic emissions test
- Newborn Hearing Screening Programme. A computer generated click is played through a small earpiece. The presence of a soft echo indicates a healthy cochlea
A history of stridor and cough points towards?Systemically well
Croup
Systemically well- therefore rules out epiglottis
What are the features of necrotising enterocolitis?
Necrotising enterocolitis is one of the leading causes of death among premature infants.
Initial symptoms can include FEEDING INTOLERANCE, abdominal DISTENSION and BLOODY STOOLS, which can quickly progress to abdominal discolouration, perforation and peritonitis.
What does the abdominal X-ray show if someone has necrotising enterocolitis?
Abdominal x-rays are useful when diagnosing necrotising enterocolitis, as they can show:
- dilated bowel loops (often asymmetrical in distribution)
- bowel wall oedema
- pneumatosis intestinalis (intramural gas- gas in the gut wall)
- portal venous gas
- pneumoperitoneum resulting from perforation
- air both inside and outside of the bowel wall (Rigler sign)
- air outlining the falciform ligament (football sign)
What age do children have intussusception?
5 months - 12 months
What is likely to be the initial investigation for intussusception? What would it show?
Ultrasound scan
Shows a target sign
Name some differential diagnosis of biliary atresia
Alphas -1 antitrypsin deficiency
CF
What is the management of biliary atresia?
Early surgical intervention (a Kasai procedure- hepatoportoenterostomy)- attempts to restore bile flow from the the liver to the proximal small bowel. It decreases hepatic damage, and avoids or delays the need for subsequent liver transplantation.
Prolonged jaundice - effect on urine and stool
The cause of prolonged jaundice in this infant is biliary atresia, a condition involving either obliteration or discontinuity within the extrahepatic biliary system. Biliary atresia results in an obstruction in the flow of bile and the presentation of a cholestatic picture, including pale stools and dark urine.
Features which may be present in a sexually abused child
pregnancy sexually transmitted infections, recurrent UTIs sexually precocious behaviour anal fissure, bruising reflex anal dilatation enuresis and encopresis behavioural problems, self-harm recurrent symptoms e.g. headaches, abdominal pain
Before what age is it considered to be precocious puberty?
Before 8 years in females and 9 years in males
Cephalohaematoma - what is it?
Acephalohaematoma may occur after a spontaneous vaginal delivery or following a trauma from the obstetric forceps or the ventouse. A haemorrhage results after the presidium is sheared from the parietal bone.
- 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.
- Doesn’t cross suture lines - the tense swelling is limited to the outline of the bone.
Jaundice may develop as a complication.
Takes up to 3 months to resolve.
What are the similarities between caput succedaneum and cephalohaematoma
- Swelling on the head of a newborn.
- More common following prolonged, difficult deliveries
- Managed conservatively
What is caput succedaneum?
Caput succedaneum is a subcutaneous, extraperiosteal, collection of fluid caused by pressure on the fatal scalp during the birthing process.
- results in a large oedematous swelling and bruising over the scalp.
- Present at birth
- typically forms over the vertex and crosses suture lines
- Resolves within days (therefore treatment not required)
Intraventricular haemorrhage - what is it and Tx?
Intraventricular haemorrhage is a haemorrhage that occurs into the ventricular system of the brain. It is relatively rare in adult surgical practice and when it does occur, it is typically associated with severe head injuries. In PREMATURE neonates it may occur spontaneously. The blood may clot and occlude CSF flow, hydrocephalus may result.
In neonatal practice the vast majority of IVH occur in the first 72 hours after birth, the aetiology is not well understood and it is suggested to occur as a result of birth trauma combined with cellular hypoxia, together the with the delicate neonatal CNS.
Treatment
- Is largely supportive
- Hydrocephalus and rising ICP is an indication for shunting.
Is an extradural haemorrhage likely to occur during the birthing process?
No
What is a subaponeurotic haemorrhage?
aka subgaleal haemorrhage
- rare and is due to a traumatic birth. It may result in the infant losing large amounts of blood
Kawasaki disease-features, management and complications
Kawasaki disease is a type of VASCULITIS which is predominately seen in children. Whilst Kawasaki disease is uncommon it is important to recognise as it may cause potentially serious complications, including coronary artery aneurysms.
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
Kawasaki disease is a clinical diagnosis as there is no specific diagnostic test.
Management
- high-dose aspirin= Kawasaki disease is 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
Neonatal hypoglycaemia causes?
- maternal diabetes mellitus
- prematurity
- IUGR
- hypothermia
- neonatal sepsis
- inborn errors of metabolism
- nesidioblastosis
- Beckwith-Wiedemann syndrome
Transient hypoglycaemia in a new born normal?
transient hypoglycaemia in the first few hours to days after birth is very common.
This is usually monitored and does not need any intervention or escalation. Mothers should be encouraged to feed their child early and at regular intervals.
10 week baby feeling not himself. not smiling much and feeding less. Examination unremarkable apart form a temperature of 38.5. What would be the most appropriate initial step in management?
Refer for same-day paediatric assessment (admit to hospital)
A child aged < 3 months with a fever > 38ºC should be assessed as high risk of serious illness.
(3 months old with a temperature > 38ºC is regarded as a ‘red’ feature in the new NICE guidelines)
Slipped capital femoral epiphysis? Basics, features, investigation, management
Slipped capital femoral epiphysis is rare hip condition seen in children, classically seen in obese boys. It is also is known as slipped upper femoral epiphysis.
Basics
- typically age group is 10-15 years
- More common in obese children and boys
- Displacement of the femoral head epiphysis postero-inferiorly
- May present acutely following trauma or more commonly with chronic, persistent symptoms
Features
hip, groin, medial thigh or knee pain
loss of internal rotation of the leg in flexion
bilateral slip in 20% of cases
Investigation
AP and lateral (typically frog-leg) views are diagnostic
Management
internal fixation: typically a single cannulated screw placed in the center of the epiphysis
What is the Apgar score?
The Apgar score is used to assess the health of a newborn baby.
What does the Apgar score contain?
Pulse RR Colour Muscle tone Reflex irritability
What is Palivizumab?
Palivizumab is a monoclonal antibody which is used to prevent respiratory syncytial virus (RSV) in children who are at increased risk of severe disease.
Who is at risk of developing RSV?
Those at risk of developing RSV include
Premature infants
Infants with lung or heart abnormalities
Immunocompromised infants
At what time is the baby at a high risk of developing severe hyperbilirubinaemia?
Less than 24 hours old
Jaundice in the first 24 hours - serious or not?
Jaundice in the first 24 hrs is always pathological
If a baby is jaundiced less than 24 hours of being born, what is the next most appropriate action to take?
Measure bilirubin within 2 hours
Causes of jaundice in the first 24 hrs:
Pathological jaundice is due to physiological problems in the red blood cells or a cross-reaction with the maternal blood
- rhesus haemolytic disease
- ABO haemolytic disease
- hereditary spherocytosis
- glucose-6-phosphodehydrogenase
Is jaundice in babies normal?
Jaundice in the first 24 hrs is always pathological.
Jaundice in the neonate from the c. 2-14 days is common (up to 40%) and usually physiological. It is more commonly seen in breast fed babies
If there are signs of jaundice after 14 days - what investigations would you do?
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? (after 14 days)
- biliary atresia
- hypothyroidism
- galactosaemia
- urinary tract infection
- breast milk jaundice
- congenital infections e.g. CMV, toxoplasmosis
Hand, foot and mouth disease - clinical features, management?
Hand, foot and mouth disease is a self-limiting condition affecting children. It is caused by the intestinal viruses of the Picornaviridae family (most commonly coxsackie A16 and enterovirus 71). It is very contagious and typically occurs in outbreaks at nursery
Clinical features:
- mild systemic upset: sore throat, FEVER
- oral ulcers
- followed later by VESICLES on the PALMS and SOLES of the feet
Management:
- symptomatic treatment only: general advice about hydration and analgesia
- reassurance no link to disease in cattle
- children do not need to be excluded from school
- the HPA recommends that children who are unwell should be kept off school until they feel better
- they also advise that you contact them if you suspect that there may be a large outbreak.
When is a congenital cataract likely to be detected?
At with during routine baby -checks. detect loss of red reflex
What is retinoblastoma? Pathophysiology, possible features, management , prognosis
Retinoblastoma is the most common ocular malignancy found in children. The average age of diagnosis is 18 months.
Pathophysiology
- autosomal dominant
- caused by a loss of function of the retinoblastoma tumour suppressor gene on chromosome 13
- around 10% of cases are hereditary
Possible features:
- absence of red-reflex, replaced by a white pupil (leukocoria) - the most common presenting symptom
- strabismus- cross-eyed
visual problems
Management
- enucleation (the removal of the eye that leaves the eye muscles and remaining orbital contents intact) is not the only option
- depending on how advanced the tumour is other options include external beam radiation therapy, chemotherapy and photocoagulation
Prognosis
- excellent, with > 90% surviving into adulthood
What is montelukast?
leukotriene receptor antagonist
What are the features of foetal alcohol syndrome?
Baby may show symptoms of alcohol withdrawal at birth e.g. irritable, hypotonic, tremors
Features:
- short palpebral fissure- (small eye opening)
- thin vermillion border/hypoplastic upper lip - (thin)
- smooth/absent philtrum
- learning difficulties
- microcephaly- (small head)
- growth retardation
- epicanthic folds - (An epicanthic fold is a skin fold of the upper eyelid that covers the inner corner (medial canthus) of the eye.)
- cardiac malformations
Cigarette smoking during pregnancy can cause:
Increased risk of miscarriage, stillbirth, pre-term labour and intrauterine growth retardation
What is Roseola infantum? Features and other possible consequences ? School?
Roseola infantum (also known as exanthem subitum, occasionally sixth disease) is a common disease of infancy caused by the human herpes virus 6 (HHV6). It has an incubation period of 5-15 days and typically affects children aged 6 months to 2 years.
Features
- high fever: lasting a few days, followed later by a
- maculopapular rash (the high grade fever resolves before the onset of the rash. The rash typically starts abruptly after the temperature subsides, and usually starts on the trunk before spreading to the limbs. The rash is not itchy)
- Nagayama spots: papular enanthem on the uvula and soft palate
- febrile convulsions occur in around 10-15%
- diarrhoea and cough are also commonly seen
Other possible consequences of HHV6 infection
- aseptic meningitis
- hepatitis
School exclusion is not needed.
Chicken pox - rash?
typically starts as an itchy red papular rash which becomes vesicular in nature. This can occur on any part of the body.
Measles - features of rash
Measles rash occurs alongside other systemic symptoms. It typically starts on the face before spreading to other parts of the body.
The characteristic ‘koplik spots’ are classical of this illness.
Newborn hearing test is called?
Otoacoustic emission test
What test is conducted if otoacoustic emission test is abnormal ?
Auditory Brainstem Response test
What are the hearing tests done after a being the newborn stage?
6-9 months= Distraction test
18 months - 2.5 years = Recognition of familiar objects
> 2.5 years =Performance testing
> 2.5 years= Speech discrimination tests
> 3 years=Pure tone audiometry
Roseola infantum - when does the rash occur?
the fever is followed later by rash
When is Croup common?
Late autumn but can occur throughout the year
What is the first line treatment in children with nocturnal enuresis following initial lifestyle and behavioural measures?
A enuresis alarm
How is Haemophilia A inherited?
X-linked recessive condition
They are only passed on from mothers (carriers) to sons.
A father with haemophilia A can only pass on the gene to his daughters who will become carriers and he cannot pass on the gene to his sons as they inherit the Y-chromosome from him.
Innocent murmurs heard in children include- (types)
- 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-blowing murmur in the pulmonary area or short buzzing murmur in the aortic area
- may vary with posture
- localised with no radiation
- no diastolic component
- no thrill
- no added sounds (e.g. clicks)
- asymptomatic child
- no other abnormality
Meningitis in children: investigation and management
Investigations= Contraindication to lumbar puncture (any signs of raised ICP): -focal neurological signs -papilloedema -significant bulging of the fontanelle -disseminated intravascular coagulation -signs of cerebral herniation
For patients with meningococcal septicaemia a lumbar puncture is contraindicated - blood cultures and PCR for meningococcus should be obtained.
Management=
1. Antibiotics
< 3 months: IV amoxicillin + IV cefotaxime
> 3 months: IV cefotaxime
- Steroids
- NICE advise against giving corticosteroids in children younger than 3 months
- dexamethsone should be considered if the lumbar puncture reveals any of the following:
- -frankly purulent CSF
- -CSF white blood cell count greater than 1000/microlitre
- -raised CSF white blood cell count with protein concentration greater than 1 g/litre
- -bacteria on Gram stain - Fluids
treat any shock, e.g. with colloid - Cerebral monitoring
- mechanical ventilation if respiratory impairment - Public health notification and antibiotic prophylaxis of contacts
- ciprofloxacin is now preferred over rifampicin
What does a child grunting indicate?
respiratory distress
this is a red flag
Bronchiolitis: epidemiology, basics, features , investigations m management
Bronchiolitis is a condition characterised by acute BRONCHIOLAR INFLAMMATION.
Respiratory syncytial virus (RSV) is the pathogen in 75-80% of cases.
Epidemiology
- most common cause of a serious lower respiratory tract infection in < 1yr olds (90% are 1-9 months, with a peak incidence of 3-6 months). Maternal IgG provides protection to newborns against RSV
- higher incidence in winter
Basics
- respiratory syncytial virus (RSV) is the pathogen in 75-80% of cases
- other causes: mycoplasma, adenoviruses
- may be secondary bacterial infection
- more serious if bronchopulmonary dysplasia (e.g. Premature), congenital heart disease or cystic fibrosis
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.
NICE recommend that clinicians ‘consider’ referring to hospital if any of the following apply:
- a respiratory rate of over 60 breaths/minute
- difficulty with breastfeeding or inadequate oral fluid intake (50-75% of usual volume ‘taking account of risk factors and using clinical judgement’)
- clinical dehydration.
Investigation
- immunofluorescence of nasopharyngeal secretions may show RSV
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
Infantile spasms- features, investigation, management
Infantile spasms, or West syndrome, is a type of childhood epilepsy which typically presents in the first 4 to 8 months of life and is more common in male infants. They are often associated with a serious underlying condition and carry a poor prognosis
Features
- characteristic ‘salaam’ attacks: flexion of the head, trunk and arms followed by extension of the arms
- this lasts only 1-2 seconds but may be repeated up to 50 times
- progressive mental handicap
Investigation
- the EEG shows hypsarrhythmia in two-thirds of infants
- CT demonstrates diffuse or localised brain disease in 70% (e.g. tuberous sclerosis)
Management
- poor prognosis
- vigabatrin is now considered first-line therapy
- ACTH is also used
Cleft lip and palate - commonest variants, pathophysiology, problems, management?
Cleft lip and palate affect around 1 in every 1,000 babies. They are the most common congenital deformity affecting the orofacial structures. Whilst they may be an isolated developmental malformation they are also a recognised component of more than 200 birth defects.
Orofacial clefts are a common malformation with many associated risk factors which can be split into those due to events in pregnancy (smoking, benzodiazepine use, anti-epileptic use, rubella infection) and syndromic disorders affecting the baby (trisomies 18, 13 and 15).
The commonest variants are:
- isolated cleft lip (15%)
- isolated cleft palate (40%)
- combined cleft lip and palate (45%)
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
Scaphoid abdomen and bilious vomiting is suggestive of…? What investigations are required?
Intestinal malrotation
An urgent upper GI contrast study and ultrasound is required.
History of projective vomiting, weight loss, non bilious. What would confirm the diagnosis?
A history of projective vomiting and weight loss is a common story suggestive of pyloric stenosis. The vomit is often not bile stained. Diagnosis is further suggested by hypochloraemic metabolic alkalosis and a palpable tumour on test feeding.
Displaced apes beat and decreased air entry. Abdominal examination - scaphoid abdomen. Diagnosis?
Displaced apex beat and decreased air entry are suggestive of diaphragmatic hernia. The abdomen may well be scaphoid in some cases. The underlying lung may be hypoplastic and this correlates directly with prognosis.
Patent ductus arteriosus -overview, features, management?
Overview
- a form of congenital heart defect
- generally classed as ‘acyanotic’. However, uncorrected can eventually result in late cyanosis in the lower extremities, termed differential cynaosis.
- connection between the pulmonary trunk and descending aorta
- usually the ductus arteriosus closes with the first breaths due to increased pulmonary flow which enhances prostaglandins clearance
- more common in premature babies, born at high altitude or maternal rubella infection in the first trimester
Features
- left subclavicular thrill
- continuous ‘machinery’ murmur
- large volume, bounding, collapsing pulse
- wide pulse pressure
- heaving apex beat
Management
- indomethacin (inhibits prostaglandin synthesis) closes the connection in the majority of cases
- if associated with another congenital heart defect amenable to surgery then prostaglandin E1 is useful to keep the duct open until after surgical repair
Bordetella pertussis - causes what condition ?
whooping cough
Ebstein’s anomaly- what is it, features ? and what are its associations? caused by?
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.
Features
-the posterior leaflets of the tricuspid valve are displaced anteriorly towards the apex of the right ventricle.
- The creates tricuspid regurgitation (pan-systolic murmur) and tricuspid stenosis (mid-diastolic murmur).
There is also enlargement of the right atrium.
- present days after birth
Associations
- tricuspid incompetence (pan-systolic murmur, giant V waves in JVP)
- Wolff-Parkinson White syndrome - This may lead to tricuspid regurgitation and in 50% of patients Wolff-Parkinson-White syndrome is seen, which is a pre-excitation syndrome caused by an accessory electrical pathway between the atria and the ventricles which may lead to an irregular heart rate
Ebstein’s anomaly may be caused by exposure to lithium in-utero - mother taking lithium during the first trimester
What murmur is heard with ventricular septal defects?
pan-systolic but not diastolic murmur
At what age does Tetralogy fo Fallot present?
at 1-2 months of age rather than in the days after birth.
What murmur is heard with mitral valve prolapse?
Mitral valve prolapse presents with a mid systolic click followed by a late systolic murmur but has no diastolic element.
Congenital heart disease -types: acyanotic - 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.
Congenital heart disease -types: cyanotic - common causes ?
- 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.
What are complications of Fragile X?
Mitral valve prolapse, pes planus, autism, memory problems and speech disorders.
Flat feet? What in a child does this mean?
Flat feet (pes planus) Normal lower limb variants in children. Typical age of presentation - all ages - Typically resolves between the ages of 4-8 years - Orthotics are not recommended - Parental reassurance appropriate
In toeing? What are the possible causes?
Normal lower limb variants in children
Typically 1st year of life.
Possible causes:
- metatarsus adductus: abnormal heel bisector line. 90% of cases resolve spontaneously, severe/persistent cases may require serial casting
- internal tibial torsion: difference the thigh and foot ankle: resolves in the vast majority
-femoral anteversion: ‘W’ sign resolves in around 80% by adolescence, surgical intervention in the remaining not usually advised
Out toeing? What are the possible causes?
Can occur at all ages
- Common in early infancy and usually resolves by the age of 2 years
Usually due to external tibial torsion
Intervention may be appropriate if doesn’t resolve as increases risk of patellofemoral pain
Bow legs (genu varum)?
Typically occurs in the 1st to 2nd year of life.
- Normal lower limb variants in children
- Typically resolves by the age of 4-5 years
Knock knees (genu valgum) ?
Typically occurs in the 3rd to 4th year of life.
- Normal lower limb variants in children
- Typically resolves spontaneously
Threadworms- features and management?
Infestation with threadworms (Enterobius vermicularis, sometimes called pinworms) is extremely common amongst children in the UK. Infestation occurs after swallowing eggs that are present in the environment.
Threadworm infestation is asymptomatic in around 90% of cases, possible features include:
- perianal itching, particularly worse at night
- It is also possible to see threadworms, described as small threads of slowly-moving white cotton either around the anus or in the stools.
- girls may have vulval symptoms
Diagnosis may be made by the applying Sellotape to the perianal area and sending it to the laboratory for microscopy to see the eggs. However, most patients are treated empirically and this approach is supported in the CKS guidelines.
Management
- CKS recommend a combination of anthelmintic with hygiene measures for all members of the household
- mebendazole is used first-line for children > 6 months old. A single dose is given unless infestation persists. The risk of transmission in families is as high as 75%, and asymptomatic infestation is common. For this reason an anthelmintic drug (mebendazole) should be given as a single dose to all household members.
What is the most common cause of hypothyroidism in children?
Hypothyroidism in children (juvenile hypothyroidism) is autoimmune thyroiditis.
Causes for hypothyroidism in children?
juvenile hypothyroidism
- autoimmune thyroiditis
- 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)
Edward’s syndrome? Features ?
Micrognathia
Low-set ears
Rocker bottom feet
Overlapping of fingers
Ultrasound markers of Edwards syndrome?
There are several ultrasound markers which are suggestive of Edwards syndrome and should prompt further investigation. These include: - Cardiac malformations - Choroid plexus cysts - Neural tube defects - Abnormal hand and feet position: clenched hands, rocker bottom feet and clubbed feet - Exomphalos - Growth restriction - Single umbilical artery - Polyhydramnios - Small placenta
Whilst these are not specific to Edwards syndrome, they are highly suggestive and together increase the likelihood of diagnosis. In fetal medicine these are known as ‘soft markers’.
What is the confirmation of diagnosis for Edward’s syndrome?
karyotype analysis of placental (chorionic villus sampling) or amniotic fluid (amniocentesis).
What are febrile convulsions? Clinical features? Types of febrile convulsions? Management?
Febrile convulsions are seizures provoked by fever in otherwise normal children. They typically occur between the ages of 6 months and 5 years and are seen in 3% of children.
Clinical features
- usually occur early in a viral infection as the temperature rises rapidly
- seizures are usually brief, lasting less than 5 minutes
- are most commonly tonic-clonic
Types of febrile convulsion:
1. simple = <15 mins, generalised seizure, typically no recurrence within 24 hours, Should be complete recovery within an hour
- complex =15 - 30 minutes,Focal seizure,May have repeat seizures within 24 hours
- febrile status epilepticus = >30 mins
Management following a seizure
- children who have had a first seizure OR any features of a complex seizure should be admitted to paediatrics
Causes of snoring in children?
- obesity
- nasal problems: polyps, deviated septum, hypertrophic nasal turbinates
- recurrent tonsillitis
- Down’s syndrome (This is due to the low muscle tone in the upper airways and large tongue/adenoids. There is also an increased risk of obesity which in people with Down’s syndrome which is another predisposing factor to snoring.)
- hypothyroidism
What is Kallman’s syndrome?
Is a cause of delayed puberty secondary to hypogonadotrophic hypogonadism.
What is the investigation of choice for intussusception?
Ultrasound
Hypotonia- causes?
Hypotonia, or floppiness, may be central in origin or related to nerve and muscle problems. - An acutely ill child (e.g. septicaemic) may be hypotonic on examination. Hypotonia associated with encephalopathy in the newborn period is most likely caused by HYPOXIC ISCHAEMIC ENCEPHALOPATHY
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
Does CF cause hypotonia?
Cystic fibrosis is NOT a cause of hypotonia in infancy
Wilms’ tumour - associations, features, histological features, referral, mx
Wilms’ nephroblastoma is one of the most common childhood malignancies. It typically presents in children under 5 years of age, with a median age of 3 years old.
Associations
- Beckwith-Wiedemann syndrome
- as part of WAGR syndrome with Aniridia, Genitourinary malformations, mental Retardation
- hemihypertrophy
- around one-third of cases are associated with a loss-of-function mutation in the WT1 gene on chromosome 11
Features
- abdominal mass (most common presenting feature) - palpable non tender mass
- distended abdomen
- PAINLESS haematuria
- FLANK PAIN
- other features: anorexia (reduction in appetite), fever
- unilateral in 95% of cases
- metastases are found in 20% of patients (most commonly lung)
- Histological features include epithelial tubules, areas of necrosis, immature glomerular structures, stroma with spindle cells and small cell blastomatous tissues resembling the metanephric blastema
Referral
- children with an unexplained enlarged abdominal mass in children - possible Wilm’s tumour - arrange paediatric review with 48 hours
Management
- nephrectomy
- chemotherapy
- radiotherapy if advanced disease
- prognosis: good, 80% cure rate
Are renal cysts painful?
Depending on their size often give rise to pain on palpation similar with polycystic kidney disease.
What are potential treatments for pathological jaundice in a. newborn?
Phototherapy
Exchange transfusion
What management is required if necrotising enterocolitis deteriorates?
Laparotomy
is often initially managed medically
What sign is seen on ultrasound when one has intussusception?
A target sign - is the side on view of multiple layers of bowel wall
What is the first line management of intussceception?
Pneumatic reduction under fluoroscopic guidance (reduction using fluoroscopy with air)
Does a cow’s milk protein intolerance/allergy ever resolve?
The majority resolve by the age of 2. 90% of cases resolve by age 1, the rest resolve by age 2.
What is the most common presentation of JIA?
Pauciarticular juvenile idiopathic arthritis (JIA) - is defined as affecting up to four joints.
How to screen for the complications of Kawasaki disease?
Echocardiogram - as coronary artery aneurysms are a complication
What is the most likely underlying diagnosis if a cyanotic congenital heart disease presents at 1-2 months?
Tetralogy of fallot
Laryngomalacia -what is it?How present?
Laryngomalacia should be suspected in an otherwise well infant with noisy breathing.
Congenital abnormality of the larynx. It is caused by a congenital softening of the cartilage of the larynx, causing collapse during inspiration.
Infants typical present at 4 weeks of age with:
STRIDOR.
(is the cause of stridor in approx 50% of neonatal cases)
Laryngomalacia can present at birth, and worsens in the first few weeks of life. It usually self-resolves before 2 years of age.
Osgood-Schlatter disease- what is it ?features? Mx?
AKA tibial apophysitis
It is a traction apophysitis thought to be caused by repeated avulsion of the apophysis into which the patellar tendon is inserted
- Seen in sporty teenagers
- Pain, tenderness and swelling over the tibial tubercle
- Unilateral (but may be bilateral in up to 30% of people).
- Gradual in onset and initially mild and intermittent, but may progress to become severe and continuous.
- Relieved by rest and made worse by kneeling and activity, such as running or jumping
Management is supportive.
Fragile X syndrome - does it cause macrocephaly or microcephaly?
Whilst not a classic cause of macrocephaly, children with Fragile X syndrome tend to have a head larger than normal.
