Neonatal Medicine Flashcards
Down’s syndrome: clinical features, cardiac complications, later complications
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
Down’s syndrome: antenatal testing
NICE issued guidelines on antenatal care in March 2008 including advice on screening for Down’s syndrome
- the combined test is now standard
- nuchal translucency measurement + serum B-HCG + pregnancy-associated plasma protein A (PAPP-A)
- these tests should be done between 11 - 13+6 weeks
- Down’s syndrome is suggested by ↑ HCG, ↓ PAPP-A, thickened nuchal translucency
- trisomy 18 (Edward syndrome) and 13 (Patau syndrome) give similar results but the PAPP-A tends to be lower
- if women book later in pregnancy either the triple or quadruple test should be offered between 15 - 20 weeks
- triple test: alpha-fetoprotein, unconjugated oestriol, human chorionic gonadotrophin
- quadruple test: alpha-fetoprotein, unconjugated oestriol, human chorionic gonadotrophin and inhibin-A
Everything DOWN with Down Syndrome except things that are HI (sounds like high)
HI = HCG and Inhibin A
Low = AFP
Down’s Syndrome Mx
What can you see in a blood film with Trisomy 21
transient abnormal myelopoiesis
What is this one?
Edwards (Trisomy 18)
Patau (Trisomy 13)
Caput succedaneum vs Cephalohaematoma
Caput succedaneum
- soft, puffy swelling due to localised oedema
- crosses suture lines
Cephalohaematoma
- Jaundice may develop as a complication.
- A cephalohaematoma up to 3 months to resolve
- *C aput S uccedenum**
- *C rosses S utures**
Caput SuccaDAYneum (Crosses Sutures) - resolves within a few days cephalohaematoMONTH (doesn't cross sutures) - resolves within a few months
Causes of neonatal hypotonia and maternal causes
Causes of neonatal hypotonia include:
- neonatal sepsis
- Werdnig-Hoffman disease (spinal muscular atrophy type 1)
- hypothyroidism
- Prader-Willi
Maternal causes
- maternal drugs e.g. benzodiazepines
- maternal myasthenia gravis
What syndrome has loss of function of chromosome 15? and what are it’s features
Prader-Willi syndrome
Prader-Willi syndrome is an example of genetic imprinting where the phenotype depends on whether the deletion occurs on a gene inherited from the mother or father:
- Prader-Willi syndrome if gene deleted from father
- Angelman syndrome if gene deleted from mother
Prader-Willi syndrome is associated with the absence of the active Prader-Willi gene on the long arm of chromosome 15. This may be due to:
- microdeletion of paternal 15q11-13 (70% of cases)
- maternal uniparental disomy of chromosome 15
Features
- hypotonia during infancy
- dysmorphic features
- short stature
- hypogonadism and infertility
- learning difficulties
- childhood obesity
- behavioural problems in adolescence
Causes of jaundice in the first 24 hours of birth
ALWAYS pathological
Haemolytic
- rhesus haemolytic disease
- ABO haemolytic disease
- hereditary spherocytosis
- G6P
TORCH
Causes of jaundice in the neonate from 2-14 days
common (up to 40%) and usually physiological
factors such as more RBCs, more fragile RBCs and less developed liver function (e.g. BRUISING)
more commonly seen in breastfed babies
Causes of prolonged jaundice after 14 days
biliary atresia
hypothyroidism
galactosaemia
UTI
breast milk jaundice
- more common in breastfed babies (high concentrations of b-glucoronidase → increased intestinal absorption of UBR)
prematurity (more than 21 DAYS IS PROLONGED)
- immature liver function
- increased risk of kernicterus (high BR damage brain -→ athetoid cerebral palsy, hearing loss, vision/teeth problems, intellectual disability
What is in an prolonged jaundice screen?
C + UBR = MOST IMPORTANT as raised CBR could indicate biliary atresia which requires urgent surgical intervention
DAT (Coombs’ test)
TFTs
FBC and blood film
urine for MC+S and reducing sugars
U+Es and LFTs
Neonatal Jaundice management
physiological = reassurance and observation
pathological = referral for immediate paediatric assessment
Pathological unconjugated
acute BR encephalopathy
- immediate exchange transfusion
- phototherapy
- hydration
- IVIG
total BR >95% centile for phototherapy (plot level on tx graph)
- phototherapy
- hydration
total BR >95% for exchange transfusion (plot level on tx graph)
- exchange transfusion
- phototherapy
- hydration
- IVIG
Pathological conjugated
- tx underlying cause e.g. surgery for biliary atresia
Breast milk jaundice
- breastfeeding can usually continue as normal
- use BR to direct mx
Summary of childhood syndromes
what is this condition?
Supravalvular aortic stenosis is found in a 3-year-old boy with learning difficulties
William’s syndrome
what is this condition?
Supravalvular aortic stenosis is found in a 3-year-old boy with learning difficulties
William’s syndrome
What is this condition?
A 2-week-old infant with a small chin, posterior displacement of the tongue and cleft palate
Pierre-Robin Syndrome
What is this condition?
Noonan syndrome
What is this condition?
Characteristic cry (hence the name) due to larynx and neurological problems
Feeding difficulties and poor weight gain
Learning difficulties
Microcephaly and micrognathism
Hypertelorism
Cri du chat syndrome (chromosome 5p deletion syndrome)