Neurologic disorder of vitamin E deficiency in acquired intestinal malabsorption

Abstract

Fifteen years after onset of a malabsorption syndrome, a 49-year-old man had sensory and oculomotor disorder with marked vitamin E deficiency. After 6 months of treatment with high parenteral doses of vitamin E, the neurologic signs slowly receded, but the patient died of gastrointestinal hemorrhage. Autopsy and sural nerve biopsy showed the changes in both central and peripheral nerves; these changes are considered characteristic of vitamin E deficiency.

Neuropathy secondary to vitamin E deficiency in acquired intestinal malabsorption

“…This is difficult 9 to explain: an occasional modification of the diet has been suggested [1], but we failed to confirm it in our patient. The beneficial effect of vitamin E supplementation, already reported in malabsorption syndromes [3,4,8,6,16,19], is suggested in our case by the relationship between the patient's improvement and the normalization of serum vitamin E concentration. Only axonal swellings and related "dystrophic" alterations [7] were not observed; on the other hand they have been usually reported in vitamin E deprived animals [7,10,17] and in children with vitamin E deficiency [8,12,14,15,16] but they are not mentioned in the peripheral nerve of affected aduls [2,19].…”

“…It is interesting that the other reported case of peripheral neuropathy due to vitamin E deficiency secondary to acquired malabsorpfion also showed spontaneous partial improvement and recurrence one year later [2]. Only axonal swellings and related "dystrophic" alterations [7] were not observed; on the other hand they have been usually reported in vitamin E deprived animals [7,10,17] and in children with vitamin E deficiency [8,12,14,15,16] but they are not mentioned in the peripheral nerve of affected aduls [2,19]. Morphological findings in the nerve biopsy of our patient correspond to the lesions described in experimental vitamin E deficiency [10,17].…”

Isolated vitamin E deficiency with demyelinating neuropathy

“…Vitamin E is a highly hydrophobic compound that depends for its solubilization and absorption on adequate concentration of bile salts. Deficiency may result from (1) fat malabsorption (cystic fibrosis, chronic cholestasis, short‐bowel syndrome, intestinal lymphangiectasia),18, 38 (2) deficient fat transport (abetalipoproteinemia, hypobetalipoproteinemia, normotriglyceridemic abetalipoproteinemia, and chylomicron retention disease), and (3) isolated deficiency of vitamin E, not associated with generalized fat malabsorption 1, 10, 37. The defect is caused by an autosomal‐recessive mutation in the alpha‐tocopherol transfer protein gene1, 26, 37 ( TTP 1 ) located on 8q13.…”

Isolierter Vitamin-E-Mangel

“…I) klinisch ähnliche progrediente neurologische Syndrome beschrieben, die man mit einem Vitamin-E-Mangel assoziierte (4, 10-12, 14,20,33-35,39-41). In manchen Fällen konnten eindrucksvolle Besserungen nach zum Teil hochdosierter oraler oder parenteraler Vitamin-E-Substitution festgestellt werden (4,12,14,33,39,40).…”

“…Weitere humanpathologischen Studien (29,31,38,40) ergaben Ähnlichkeiten zu den bekannten tierexperimentellen AutTälligkeiten, die bei einem Vitamin-E-Mangel beschrieben waren: Neben der genannten Hinterstrangdegeneration wurden an der Skelettmuskulatur regelmäßig Gewebsveränderungen gesehen, die zwar nicht spezifisch sind, aber als charakteristisch für einen Vitamin-E-Mangel gelten (31). Während beim experimentellen Vitamin-E-Mangel im Tierversuch überwiegend das Bild einer nekrotisierenden Myopathie besteht (16,30), wurden beim menschlichen Vitamin-E-Mangel-Syndrom weniger stark ausgeprägte Muskelfaserdegenerationen gesehen.…”