syndromes

Question 1

what is Gilberts syndrome?

Answer 1

-benign inherited cause of unconjugated hyperbilirubinemia

Question 2

what is Wernicke- Korsakoff syndrome?

Answer 2

• organic brain disorder resulting indirectly from chronic alcohol misuse
• presents as encelapothy

Question 3

what is Wilsons disease?

Answer 3

a rare autosomal recessive disorder due to loss of function/mutation in caeruplasmin that causes copper accumulation in the liver and brain

Question 4

what are symptoms of Wilsons disease?

Answer 4

Kayser-Fleischer rins (green/brown discolouration of corneal margin)

Neurological disease

Hepatic manifestations (recurrent hepatitis or chronic liver failure/cirrhosis with unknown cause)

Question 5

treatment for Wilsons disease?

Answer 5

copper binding drugs- penicillamine

liver transplantation for fulminant liver failure or advanced cirrhosis with liver failure

Screen first degree family members

Question 6

what is Zollinger-Ellison syndrome?

Answer 6

-a gastrin secreting adenoma most commonly found in the pancreas that leads to ulcers in the duodenum and stomach

Question 7

what is the treatment for Zollinger-Ellison syndrome?

Answer 7

-resection of the tumour