A Progressive Neurologic Syndrome in Children with Chronic Liver Disease

Abstract

A progressive neurologic syndrome developed in six children with longstanding cholestatic liver disease. The neurologic abnormalities included areflexia, gait disturbance, decreased proprioceptive and vibratory sensation, and paresis of gaze. Serum vitamin E concentrations were uniformly low. Neuropathological studies carried out in two of the three fatal cases revealed degeneration of the posterior column, selective loss of large-caliber, myelinated axons in peripheral nerve, and spheroids in the gracile and cuneate nuclei. These lesions are similar to those found in animals with experimentally induced vitamin E deficiency. We therefore speculate that the neurologic syndrome in these children may be the result of chronic vitamin E malabsorption.

Cortical Gene Expression in the Vitamin E-Deficient Rat: Possible Mechanisms for the Electrophysiological Abnormalities of Visual and Neural Function

“…This is in line with the observed neuropathological changes found in vitamin E-deficient rats [5,44] , monkeys [4] and man [45,46] which are characterized by a primary axonopathy with secondary demyelination. Previous studies have revealed that vitamin E deficiency leads to enhanced oxidative stress in the cerebral cortex as shown by increased concentrations of malondialdehyde [47] .…”

Familial cholestasis with gallstone, ataxia and visual disturbance.

“…Recently a progressive neurological syndrome in children with chronic liver disease has been documented by Rosenblum et al (1981). The neurological syndrome is very similar to that of our case.…”

“…In the present case the serum vitamin E value was extremely low. In the view of the report by Rosenblum et al (1981) such a low serum level of vitamin E may play a role in the pathogenesis of neurological disorders.…”

Ultrastructural abnormalities in the skeletal muscle of children with chronic cholestasis and a long-term vitamin E replacement.

“…We discuss the relationship of these findings to vitamin E replacement in children with chronic cholestasis. vitamin E ; cholestasis ; muscle pathology ; ultrastructureThe relationship between prolonged vitamin E deficiency and neurologic complications in patients with cholestasis has been well documented (Rosenblum et al 1981;Guggenheim et al 1982a Guggenheim et al , b, 1983Alvarez et al 1983;Neville et al …”