Kernicterus, biliary atresia, choledochal cysts, NHS

Question 1

What is Kernicterus?

Answer 1

• Encephalopathy resulting from deposition of toxic unconjugated bilirubin in the basal ganglia and brainstem.
• When unconjugated bilirubin exceeds albumin binding capacity of bilirubin in blood.
• Free UCB is fat-soluble and can cross BBB.
• Neurotoxic effects - severe permanent damage and even death.
• Used to be an important cause of brain damage in infants with severe Rhesus haemolytic disease - since introduction of anti-D immunoglobulin for Rhesus negative mothers - rates have plummeted.

Question 2

Clinical presentation of Kernicterus?

Answer 2

1) Lethargy
2) Poor feeding
3) Increased muscle tone (arched back lying down)
4) Severe irritability
5) Seizures and coma

Question 3

Complications of Kernictus?

Answer 3

Infants who survive - may develop choreoathetoid cerebral palsy (due to basal ganglia damage), learning difficulties and sensorineural deafness.

Question 4

What is biliary atresia?

Answer 4

• Rare disease in which there is destruction or absence of the extra hepatic biliary tree.
• Leads to obstructive conjugated jaundice and liver failure.
• RARE (1 in 17,000)
• Extrahepatic ducts are obliterated by inflamed and subsequent fibrosis leading to biliary obstruction and jaundice.

Question 5

Clinical presentation of biliary atresia?

Answer 5

• Healthy term babies with normal weight at birth.
• Persistant jaundice and dark urine + pale stools
• Failure to thrive
• Splenomegaly and hepatomegaly (late feature)

Question 6

Differential diagnosis of biliary atresia?

Answer 6

• Choledochal cyst

Question 7

Diagnosis of biliary atresia?

Answer 7

1) LFT’s abnormal with conjugated hyperbillirubinaemia

2) Liver histology DIAGNOSTIC

Question 8

Treatment of biliary atresia?

Answer 8

Surgery:
1) Kasai procedure (bypass of fibrotic ducts)
2) Success rate better earlier (before 60 days) - achieve bile drainage
Complications of surgery - Malabsorption of fat and fat-soluble vitamins.

Even if surgery is successful - frequent progression to cirrhosis and PHTN - biliary atresia singe most COMMON REASON for liver transplant in children.

Question 9

What are Choledochal cysts?

Answer 9

Cystic dilations in the extra hepatic biliary system.

Question 10

Clinical presentation of Choledochal cysts?

Answer 10

1) 25% present in infancy with cholestasis (bile not moving = fever, conjugated jaundice = pale stools and dark urine)
2) Older children - abdominal pain, palpable mass, jaundice, cholangitis

Question 11

Diagnosis of Choledochal cysts?

Answer 11

1) Ultrasound

2) Radionuclide scanning

Question 12

Treatment of Choledochal cysts? Complications?

Answer 12

1) Surgical excision of cysts

Complications: Cholangitis, 2% risk of malignancy.

Question 13

Aetiology of Neonatal Hepatitis syndrome?

Answer 13

1) Often no cause
2) Congenital infection
3) Alpha-1 antitrypsin deficiency
4) Galactosaemia
5) Cystic fibrosis

Question 14

Presentation of neonatal hepatitis syndrome?

Answer 14

• Prolonged neonatal jaundice
• Hepatic inflammation
• May have IUGR and hepatosplenoegaly at birth (in contrast to biliary atresia)

Question 15

Diagnosis and treatment of neonatal hepatitis syndrome?

Answer 15

1) Liver biopsy is non-specific, and shows giant cell hepatitis
2) Treat the cause