Neonatal and congenital abnormalities

Question 1

What is biliary atresia?

Answer 1

Obliteration or discontinuation of extra-hepatic bile ducts. Results in biliary obstruction which causes cholestasis in first few weeks of life.

Question 2

What are the different types of biliary atresia?

Answer 2

Type 1: proximal duct patent but common duct obliterated.
Type 2: Atresia of cystic duct and cystic structures.
Type 3: Atresia of left and right ducts at level of portis hepatis.

Question 3

Presentation of biliary atresia?

Answer 3

Typically presents in first few weeks of life with:
Jaundice (extending beyond physiological two weeks).
Dark urine and pale stools.
Appetite and growth disturbance.
Signs - Jaundice, hepatosplenomegaly, abnormal growth, cardiac murmurs.

Question 4

Investigations for biliary atresia

Answer 4

Conjugated and total bilirubin (total bilirubin may be normal whereas conjugated bilirubin is high)
LFTs
Serum alpha 1- antitrypsin.
Chloride sweat test.
Ultrasound of biliary tree.
Percutneous liver biopsy

Question 5

What is the management and complications of biliary atresia?

Answer 5

Rx: Surgery is the only definitive treatment.
Complications: Unsuccessful anastamosis, progressive liver disease, cirrhosis with eventual HCC

Question 5

Causes of jaundice in the newborn in the first 24 hours?

Answer 5

ALWAYS pathological:
- Rhesus haemolytic disease,
- ABO haemolytic disease,
- Hereditary spherocytosis,
- G6PD deficiency

Question 5

Causes of jaundice in neonate from 2-14 days?

Answer 5

Usually physiological due to more RBCs, more fragile RBCs and less developed liver.
Breast milk jaundice - lots of reasons why eg, breast milk may inhibit livers ability to process bilirubin.

Other causes: dehydration, infections, haemolysis, polycythaemia, crigler-Najjar synndrome

Question 6

Causes of jaundice in neonate > 14 days

Answer 6

This is defined as prolonged jaundice (>21 days in premature babies). Causes are;
Biliary atresia,
Hypothyroidism,
Galatosaemia,
UTI,
Breast milk jaundice,
Prematurity,
Congenital infections eg, CMV

Question 7

Investigations for prolonged jaundice?

Answer 7

Prolonged jaundice screen is performed:
Conjugated and unconjugated bilirubin (conjugated may suggest biliary atresia),
Direct antiglobulin test (coombs test),
TFTs,
FBC and blood film,
Urine for MC&S,
U&Es,
LFTs

Question 8

What is a cephalohaematoma?

Answer 8

Swelling on newborns head due to bleeding between periosteum and skull. More common with difficult deliveries/ventouse.
Most commonly seen on parietal region.
Jaundice may develop as complication.
May take up to 3 months to resolve

Question 9

What is caput seccedaneum?

Answer 9

Oedema of the scalp at presenting part of head (typically vertex).
May be due to trauma of scalp pushing through cervix, prolonged selivery or use of ventouse.
Presents as soft, puffy swelling which crosses suture lines.
No treatment needed.

Question 10

What are the common variants of cleft palate?

Answer 10

Isolated cleft lip,
Isolated cleft palate
Combined cleft lip and palate

Question 11

What is the pathophysiology of cleft lip/palate?

Answer 11

Cleft lip - Failure of fronto-nasal and maxillary processes to fuse.
Cleft palate - failure of palatine processes and nasal septum to fuse.

OVERALL - failure of fusion of maxillary processes.

Increased risk with maternal antiepileptic use.

Question 12

What are the problems with cleft lip/palate?

Answer 12

Feeding - orthodontic device may be helpful.
Speech - need for speach therapy.
Increased risk of otitis media with cleft palate.

Question 13

What is the management of cleft lip/palate?

Answer 13

Cleft lip - repaired earlier than palate. Varies between first week to three months.
Cleft palate - repaired between 6-12 months of age.

Question 14

What are the definitions of the following:
1. Anencephaly
2. Encephalocele
3. Microcephaly

Answer 14

1. Anencephaly - Majority of scalp, skull and cerebral hemisphere do not develop. Always fatal.
2. Encephalocele - protrusion of brain and meninges through midline defect in skull.
3. Microcephaly - small head due to incomplete brain development/aresst of brain growth

Question 15

Causes of microcephaly?

Answer 15

Normal variation,
Familial,
Congenital infection,
Perinatal brain injury (hypoxic ischaemic encephalopathy),
Fetal alcohol syndrome,
Chromosomal syndromes (Patau)
Craniosynostosis.

Question 16

Name some examples of disorders of neuronal migration

Answer 16

Lissencephaly - absence of gyri,
Holoprosencephaly - failure of forebrain to separate into two cerebral hemispheres,
Schizencephaly.
They are a spectrum of disorders which may result in learning difficulties, developmental delay, seizures and inutero death

Question 17

Describe features of a sacral dip

Answer 17

Dimple or indentation over sacrum. Harmless if base is seen or below natal cleft.

Question 18

Describe features of preauricular pits and tags?

Answer 18

Pits - dimple/indentation in skin anterior to tragus. Weak association with renal abnormalities.

Tag - skin tags anterior to tragus. Harmless but may be referred to plastics

Question 19

Describe features of tracheo-oesophageal fistula

Answer 19

Communication between trachea and oesophagus. Often associated with other syndromes.
Presents with coughing/chocking during feeding, abdo distention and recurrent chest infections.
Diagnosed with bronch.
Treat with surgery

Question 20

Features of duodenal atresia

Answer 20

One third also have downs syndrome.
Presents with bilious vomiting shortly after birth.
Abdo x ray shows double bubble sign.
Prognosis is excellent with surgery.

Question 21

Describe features of exomphalos/omphalocele

Answer 21

Hernia into base of umbilical cord covered by sac.
Often associated with chromosomal abnormalities.
Surgical repair needed and must be done in stages.

Question 22

What is gastroschisis?

Answer 22

Defect in abdomen to right of umbilicus with protrusion of contents not covered by sac. Bowel is often in poor condition and needs resented.

Question 23

Describe features of hypospadias?

Answer 23

Urethral opening on underside of penis.
Surgical repair performed at 12-18 months.
Parents should not have child circumcised as foreskin needed for repair.

Question 24

Describe features if imperforate anus

Answer 24

presents shortly after birth with failure to pass meconium, bilious vomiting and abdominal distention.

Question 25

Describe features of a diaphragmatic hernia?

Answer 25

May be detected on antenatal ultrasound. Otherwise presents with scaphoid abdomen, dextrocardia and respiratory distress at birth.

Question 26

Describe features of acondroplasia?

Answer 26

Autosomal dominant disorder of bone growth.
Presents at birth with short limbs, large head with flat midface, frontal bossing, lumbar lordosis and trident hand.
Prognosis excellent and IQ normal

Question 27

Describe features of polydactyly and syndactyly

Answer 27

Poly - more than five fingers or toes on any limb.
Syn - webbed

Question 28

Describe features of transient tachypnoea of the newborn

Answer 28

Respiratory distress caused by delayed reabsorption of fluid in lungs.
More common following C-sections.
CXR shows hyperinflated lungs and fluid in horizontal fissure.
Managed with supportive care and oxygen. usually settles within 1-2 days