Small bowel resection with vitamin E deficiency and progressive spinocerebellar syndrome

John M. Bertoni, F. A. Abraham, Harold F. Falls, Hideo H. Itabashi

Research output: Contribution to journalArticle

32 Scopus citations

Abstract

A 27-year-old woman who had undergone extensive small bowel resection at age 14 months developed kyphoscoliosis, ocular palsies, constricted visual fields, retinitis pigmentosa, progressive ataxia, muscular weakness, nearly absent vibration and impaired position sense, areflexia, extensor plantar responses, and macrocytic anemia. Her condition closely resembled Bassen-Kornzweig disease, but lipoprotein electrophoresis was normal. Mild fat malabsorption, lactic acidosis, and severe deficiency of vitamins A and E and carotene were documented. Serum B12 and folic acid levels were normal. During vitamin A and E therapy sufficient to elevate serum levels to the normal range, there was improvement of visual fields and visual acuity in dim light, lactic acidosis, and red cell volume. Progression of symptoms was halted during vitamin replacement therapy, and her gait improved. This syndrome is the human counterpart to vitamin E deficiency in experimental animals.

Original languageEnglish (US)
Pages (from-to)1046-1052
Number of pages7
JournalNeurology
Volume34
Issue number8
DOIs
StatePublished - Aug 1984

ASJC Scopus subject areas

  • Clinical Neurology

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