Tohoku J Exp Med 1982 Jun;137(2):137-44

Familial cholestasis with gallstone, ataxia and visual disturbance

Tazawa Y, Konno T

Abstract
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 pruritis but resulted in no improvement in her
clinical course