Neuromuscular dysfunction and ultrastructural pathology in children with chronic cholestasis and vitamin E deficiency

The ultrastructural pathology of nerve and muscle and the neurological dysfunction in children with cholestatic liver disease and vitamin E deficiency have not been previously correlated. We studied two children with this syndrome. One child, 11 years of age, had severe hyporeflexia and decreased vibratory sense. Nerve conduction was delayed. The second child, 2 years of age, was neurologically normal. Both children showed ultrastructural evidence of damage to the sural nerve and accumulation of electron-dense deposits in the muscle fibers. Abnormalities of the nerves included disruption of the myelin sheath and separation and degeneration of the inner and outer components of the Schmidt-Lanterman incisure.