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Pathology of chronic vitamin E deficiency in fatal familial intrahepatic cholestasis (Byler disease)

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A case of fatal familial intrahepatic cholestasis (Byler disease) developed a neuromuscular syndrome similar to that in experimental vitamin E deficiency and abetalipoproteinemia, and died of hepatic and cardiac failure. Serum vitamin E level was extremely low. Autopsy revealed intrahepatic cholestatic cirrhosis without obliterative lesions in the bile duct system and marked splenomegaly with splenoma-like nodules. The other pathological lesions were considered to be due to chronic vitamin E deficiency caused by fat-malabsorption. They included almost all of the lesions previously described in the studies of experimental vitamin E deficiency as follows: 1. Mitochondrial changes especially of the hepatocyte and cardiac muscle. 2. Cardiomyopathy. 3. Myopathy. 4. Vasculopathy. 5. Systemic lipofuscinosis. 6. Lesions of the reproductive and endocrine organs. 7. Kyphoscoliosis and pes cavus. 8. Systemic neuroaxonal dystrophy with peripheral neuropathy.

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Saito, K., Matsumoto, S., Yokoyama, T. et al. Pathology of chronic vitamin E deficiency in fatal familial intrahepatic cholestasis (Byler disease). Virchows Arch. A Path. Anat. and Histol. 396, 319–330 (1982).

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Key words

  • Intrahepatic cholestasis
  • Vitamin E deficiency
  • Mitochondria
  • Cardiomyopathy
  • Lipofuscin