Walsh & Hoyt: Encephalomyopathy with Ophthalmoplegia from Vitamin E Deficiency

In 1950, Bassen and Kornzweig described a condition characterized by acanthocytosis, pigmentary retinopathy, progressive ataxia, and neuropathy. The disorder results from the lack of apolipoprotein B, which is essential to the transport of fat-soluble vitamins, and is called abetalipoproteinemia or the Bassen-Kornzweig syndrome. The syndrome is caused by lack of vitamin E because of impaired intestinal absorption of lipids and lipid-soluble vitamins. In fact, the neurologic disorder of abetalipoproteinemia is identical to that observed in other forms of human vitamin E deficiency, whether caused by malabsorption, cholestatic liver disease with impaired secretion of bile salts, bowel resection, or cystic fibrosis. The neurologic signs in patients with vitamin E deficiency include ataxia, areflexia, and loss of vibratory sensation due both to demyelinating neuropathy and neuronal degeneration of the cerebellum. The ocular motor abnormalities in patients with this disorder include abnormally slow voluntary saccades, slow or absent fast components of vestibular and optokinetic nystagmus, strabismus, pseudointernuclear ophthalmoplegia with dissociated nystagmus in the adducting eye on attempted horizontal gaze, and moderate to severe progressive external ophthalmoplegia. Kommerell described an ""internuclear ophthalmoplegia of abduction"" (e.g., posterior internuclear ophthalmoplegia of Lutz) in a 5-year-old girl with severe cholestatic liver disease. He postulated that the patient had some type of ""hepatotoxic encephalopathy,"" and in fact it seems likely that the patient had a vitamin E deficiency syndrome. Cremer and Halmagyi reported a similar case.