Isolated vitamin E deficiency and progressive ataxia.

Abstract

A case of progressive spinocerebellar syndrome due to isolated vitamin E deficiency is reported. Measurement of the vitamin E concentration in serum should be included when investigating all children with unexplained, progressive ataxia, even in the absence of malabsorption. Replacement treatment in patients with a vitamin E deficiency can arrest or improve the associated neurological disorder. (Arch Dis Child 1993; 69: 602-603)

Ataxia with isolated vitamin E deficiency: A clinical, biochemical and genetic diagnosis

“…The present case highlights many of the clinical features described previously in reported cases of AVED, such as progressive ataxia, dysarthria, areflexia and decreased proprioception 5–8 . Ataxia with isolated vitamin E deficiency and Friedreich’s ataxia may resemble each other closely with regard to their initial clinical presentation.…”

“…However, in AVED patients, outcomes are difficult to evaluate in view of the limited number of recognized cases so far. Previous case reports suggest that treatment may arrest deterioration and may improve clinical findings marginally 6–8 . With increasing awareness of this clinical entity and improved diagnostic tools, earlier recognition and treatment may lead to a better outcome.…”

Effect of vitamin E supplementation in patients with ataxia with vitamin E deficiency

“…In our patients, the most frequent clinical presentation was FA phenotype and in all of them the age of onset was under 25 years. These data are similar to those reported in the literature (Laplante et al ., 1984; Harding et al ., 1985; Krendel et al ., 1987; Stumpf et al ., 1987; Yokota et al ., 1987; Sokol et al ., 1988; Rayner et al ., 1993; Belal et al ., 1995; Jackson et al ., 1996; Tamaru et al ., 1997; Cavalier et al ., 1998; Labauge et al ., 1998; Martinello et al ., 1998; Hoshino et al ., 1999). Patients reported from Japan (Shimohata et al ., 1997; Yokota et al ., 1997) have later age of onset and milder clinical presentation.…”

“…Vitamin E daily intake was 800 mg as recommended by most authors (Harding et al ., 1985; Krendel et al ., 1987; Stumpf et al ., 1987; Yokota et al ., 1987; Sokol et al ., 1988; Rayner et al ., 1993; Jackson et al ., 1996; Martinello et al ., 1998). With this dosage, serum Vit E levels reached the normal range since the first biological control in all patients except one (who needed 1200 mg of Vit E daily).…”

“…Few previous studies reported results of Vit E supplementation in AVED patients. The majority of these studies mentioned a stabilization of the course of the disease (Krendel et al ., 1987; Rayner et al ., 1993; Jackson et al ., 1996; Tamaru et al ., 1997; Labauge et al ., 1998). Another study reported improvement of deep sensory disturbances after 15‐months treatment in a 23‐year‐old woman (Harding et al ., 1985) and in another, improvement of ataxia, head and action tremor after 18 months of treatment in a 23‐year‐old man (Sokol et al ., 1988).…”