Retraction nystagmus indicates the presence of a lesion in the rostra1 periaqueductal-midbrain region [31. It may occur spontaneously or on deviation of gaze from the midposition, most commonly on attempts to look upward. In the patient described here, retraction nystagmus occurred only on bilateral
Vitamin E deficiency in Werdnig-Hoffmann disease
β Scribed by Dr. Yehuda Shapira; Rami Amit; Eliezer Rachmilewitz
- Publisher
- John Wiley and Sons
- Year
- 1981
- Tongue
- English
- Weight
- 285 KB
- Volume
- 10
- Category
- Article
- ISSN
- 0364-5134
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β¦ Synopsis
Abstract
Vitamin E levels were measured in the plasma of infants and children with various neuromuscular disorders. Seven of 8 infants with WerdnigβHoffmann disease (WHD) had a singificantly lower plasma vitmin E level (p < 0.01) than ageβmatched normal controls, children with congenital myopathies, or children with muscular dystrophy. Vitamin E deficiency in WHD is not caused by malabsorption. A therapeutic trial of vtamin course of the disease. Vitamin E deficiency may play a role in the pathologenesis of WHD.
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## Abstract We report a patient with lateβonset celiac disease and neurological manifestations including myopathy, polyneuropathy, and ataxia. Laboratory investigations showed antiβgliadin antibodies and severe vitamin E deficiency. Muscle biopsy revealed inflammatory infiltrates and rimmed vacuole
Spinal muscular atrophy (SMA) or Werdnig-Hoffmann disease is the second most common neuromuscular disease, with 25% of cases presenting in infancy. Deletions in the survival motor neuron gene are believed responsible for autosomal-recessive SMA. SMA affects about 1 in 10,000 births. Symptomatic newb