August 25, 2012

7 year old with mild icterus, moderate splenomegaly and hyperbilirubinemia

A 7 year old is noted to have mild icterus. On examination he is found to have moderate splenomegaly. Investigations reveal a conjugated hyperbilirubinemia. There are normal levels of AST, ALT, albumin, alkaline phosphatase. Tests on the urine reveal an elevated total coproporphyrin excretion of 5 times the normal with 25% being coproporphyrin I. A liver biopsy is normal.

A likely diagnosis is:

a) Pancreatic carcinoma
b) Hemochromatosis
c) Laennec's cirrhosis
d) Hepatitis A
e) Hepatocellular carcinoma
f) Rotor's Syndrome
g) Primary biliary cirrhosis
h) Gilbert's Syndrome
i) Hepatitis B
j) Hemolysis

The correct answer is F

Rotor's Syndrome is an inherited disorder characterized by a congenital defect in bilirubin uptake and storage resulting in chronic, benign jaundice. It is a rare autosomal recessive disorder characterized by various organic anions as well as bilirubin. The hyperbilirubinemia is conjugated and bile appears in the urine. Splenomegaly occurs in half of patients and jaundice may occur as early as age 5. It is usually intermittent in nature.

Rotor Syndrome and Dubin-Johnson Syndrome represent autosomal recessive disorders resulting in chronic, benign conjugated hyperbilirubinemia and jaundice. They are secondary to a genetic defect resulting in a deficiency of organic acid uptake and storage in the liver -> conjugated hyperbilirubinemia -> jaundice. Clinical features include mild icterus and jaundice with no pruritis. The jaundice can be exacerbated by intercurrent infections.

Investigations reveal a conjugated hyperbilirubinemia, normal AST, ALT, albumin, alkaline phosphatase, PT, bile salts, a delayed plasma sulfobromophthalen excretion after IV injection, elevated total coproporphyrin excretion (2.5-5x normal) in the urine with 25% being coproporphyrin I. Biposy of the liver is normal since this is a benign condition with a normal life span.

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