Familial cholestasis with gallstone, ataxia and visual disturbance.
Two siblings with progressive intrahepatic cholestasis were reported. The brother died at 4 years of age because of hepatic failure followed by persistent obstructive jaundice starting at 4 months of age. The sister had unique clinical features, including recurrent obstructive jaundice since early infancy, radiopaque gallstone and neurological abnormalities which were cerebellar ataxia, bilateral ptosis, hyporeflexia and visual disturbance involving retinal degeneration and optic atrophy. She had a coarse facial appearance, camptodactyly and sclerotic skin with many scratch marks. Persistent high levels of serum bile acids were found while the patient was icteric and even anicteric, though serum cholesterol levels were approximately within normal limits. The serum lipoprotein-X was negative whenever examined. Cholestyramine treatment gave incomplete relief from pruritus but resulted in no improvement in her clinical course.
D002524:Cerebellar Ataxia / Q000150:complications / Q000235:genetics*; D002769:Cholelithiasis / Q000150:complications / Q000235:genetics*; D002780:Cholestasis, Intrahepatic / Q000150:complications / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D014786:Vision Disorders / Q000150:complications / Q000235:genetics*