Cholestasis With Gallstone, Ataxia, And Visual Disturbance

Schubert et al. (1976) reported a case of congenital cholestasis, radiopaque gallstone and cerebellar ataxia. Tazawa and Konno (1982) reported the cases of infant son and daughter of first-cousin parents. The boy was first noted to be jaundiced at age 4 months and died at age 4 years. In the girl, jaundice was first noted at age 5 days. Liver biopsy at age 2 months showed giant cell hepatitis with marked cholestasis. A gallstone was removed surgically at age 3 years, the same age at which ataxia was first noted. Bilateral ptosis developed at age 10. Retinal lesions and optic atrophy started in infancy. Camptodactyly became prominent with age. Jaundice was intermittent but pruritus persisted during anicteric stages. The last observations were made at age 12. It is not clear that this is distinct from Byler disease (211600) or another form of intrahepatic cholestasis described elsewhere. The retinal and neurologic features may have been secondary to nutritional abnormalities.