J Pediatr Gastroenterol Nutr 1984 Jun;3(3):385-9

Familial intrahepatic cholestasis associated with progressive neuromuscular
disease and vitamin E deficiency

Nakagawa M, Tazawa Y, Kobayashi Y, Yamada M, Suzuki H, Konno T, Tada K

Abstract
Three Japanese patients with familial progressive intrahepatic cholestasis
developed complications involving neurologic abnormalities characterized by
ataxia and pigmentary retinopathy. Serum vitamin E concentrations were extremely
low in all patients, suggesting a long-term vitamin E deficiency. High dose oral
supplementation of alpha-tocopherol produced normal serum vitamin E levels in
two patients. Parenteral administration of vitamin E resulted in no clinical
improvement in one patient who first received the treatment at 14 years of age.
In the other two patients, the progression of neurological abnormalities was
slowed by vitamin E supplementation. Cholestyramine treatment resulted in an
apparent decrease in serum vitamin E levels despite oral alpha-tocopherol
supplementation