Paediatrics Flashcards
What are the features of Patau syndrome (trisomy 13)?
- Microcephaly and small eyes
- Cleft lip/palate
- Polydactyly
- Scalp lesions
What are the features of Edward’s syndrome (trisomy 18)?
- Micrognathia
- Low set ears
- Rocker bottom feet
- Overlapping fingers
What are the features of Fragile X syndrome?
Trinucleotide repeat disorder causing:
- Learning difficulties
- Macrocephaly
- Long face
- Large ears
- Macro-orchidism
- Mitral valve proplapse
Diagnosis with chorionic villus sampling or amniocentesis
What are the features of Noonan syndrome?
- Webbed neck
- Pectus excavatum
- Short stature
- Pulmonary stenosis
What are the features of Pierre-Robin syndrome?
- Micrognathia
- Posterior displacement of tongue
- Cleft palate
NB - similar to Treachers Collins but TC is autosomal dominant
What are the features of Prader-Willi syndrome?
- Hypotonia
- Hypogonadism
- Obesity
What are the features of William’s syndrome?
- Short stature
- Learning difficulties
- Friendly, extroverted personality
- Transient neonatal hypercalcaemia
- Supravalvular aortic stenosis
What are the features of Cri du chat syndrome?
- Chromosome 5p deletion
- Characteristic cry due to larynx and neurological problems
- Feeding difficulties, failure to thrive
- Learning difficulties
- Microcephaly and micrognathism
- Hypertelorism (far apart eyes)
What are the features and complications of Down’s syndrome?
Features:
- Face: epicanthal folds, Brushfield spots, protruding tongue, small low set ears
- Flat occiput
- Single palmar crease
- Hypotonia
- Duodenal atresia
- Hirschsprung’s disease
Complications:
- CARDIAC!!!! - AV septal canal defects, VSD, tetralogy of Fallot, isolated patent ductus arteriosus
- Subfertility
- Learning difficulties
- Respeated respiratory infections
- ALL
- Hypothyroidism
- Alzheimer’s disease
- Atlantoaxial instability
- Otitis media and glue ear
What is the epidemiology of Down’s syndrome?
1/1000 at 30 years, then divide the denominator by 3 for every extra 5 years of age
What are the features of McCune-Albright syndrome?
- NOT inherited; due to a random, somatic mutation in the GNAS gene
- Precocious puberty
- Cafe-au-lait spots
- Polyostotic fibrous dysplasia
- Short stature
What are the features of Turner’s syndrome?
- Due to presence of only one sex chromosone (X) or deletion of short arm of one of the X chromosomes (45, X)
- Short stature, webbed neck, shield chest
- Bicuspid aortic valve and coarctation of the aorta
- Primary amenorrhoea
- Elevated gonadotrophin levels
- Horshoe kidney
- Increased risk of autoimmune disease
What is the Apgar score?
- A score used to assessed the health of a newborn baby at 1 and 5 minutes of age (if low repeat at 10 minutes)
- Looks at pulse, respiratory effort, colour, tone and reflex irritability
- 0-3 (very low), 4-6 (moderate low), 7-10 (good)
What is the purpose of the Heel Prick (Guthrie) test?
Performed at 5-9 days of life, screening for:
- Congenital hypothyroidism
- Cystic fibrosis
- Sickle cell disease
- Phenylketonuira
- MCADD
- Maple syrup urine disease
- Isovaleric acidaemia
- Glutaric aciduria type 1
- Homocystinuria
What is caput succedaneum and how is it managed?
- Oedema of the scalp at the vertex after birth
- Crosses suture lines
- No treatment needed, resolves in days
What is cephalohaeatoma and how is it managed?
- Swelling on head of a newborn that develops several hours after birth due to bleeding between periosteum and skull
- Commonly in parietal region, does not cross suture line
- Jaundice may develop as a coplication
- No treatment needed, may take months to resolve
What is an Epstein’s pearl and how is it managed?
- Congenital cyst found on the hard palate
- No treatment needed
- Will resolve in weeks
What is haemorrhagic disease of the newborn?
- Bleeding in neonates secondary to vitamin K deficiency
- All newborns given IM or oral vit K to prevent
What causes jaundice in the first 24h after birth?
ALWAYS PATHOLOGICAL
- Rhesus haemolytic disease
- ABO haemolytic disease
- Hereditary spherocytosis
- Glucose-6-phosphodehydrogenase
What causes jaundice in 2-14 days?
- Common and usually physiological
- Due to increased RBC and less developed liver function
- More common in breastfed babies
What causes jaundice after 14 days (or 21 days if premature)?
Must perform jaundice screen involving bilirubin, Coombs test, TFTs, FBC and blood film, urine, U&Es, LFTs
Causes:
- Biliary atresia > raised conjugated bilirubin, requires urgent surgical intervention
- Hypothyroidism
- Galactosaemia- inability to breakdown galactose
- Urinary tract infection
- Breast milk jaundice
- Prematuring
- Congenital infections eg. CMV, toxo
How does coeliac disease present and how is it diagnosed and managed?
Features:
- Associtated with HLA-DQ2 and HLA-DQ8
- Presents around 3y with failure to thrive, diarrhoea, distension, anaemia
Diagnosis:
- Jejunal biopsy shows subtotal villous atrophy
- Anti-endomysial and anti-gliadin antibodies to screen
Management:
- Gluten avoidance
How does Cow’s milk protein intolerance/allergy present and how is it diagnosed/managed?
Features:
- Presents in first 3 months of life in formula fed infants
- IgE and non-IgE mediated
- Regrugitation, vomiting, diarrhoea, atopy, colic sx, wheeze, angioedema
Diagnosis:
- Clinical with elimination diet
- Consider skin prick/patch
- Consider total IgE and specific IgE (RAST) for cow’s milk protein
Management:
1. Formulate fed - eHF or AAF milk
2. Breast fed - mum to eliminate cows milk
How does GORD present and how is it managed?
Features:
- Most common cause of vomiting in infancy
- Presnts as milky vomits and crying after feeding, before 8 weeks
- RF include preterm delivery and neuro disorders
Diagnosis:
- Clinical
Management:
- 30 degree head up during feeds
- Infants to sleep on their back
- Smaller and more frequent feeds
- Thickened formula and alignate therapy
- Specialists can initate medical therapy and fundoplication as last resort