| Vitamin E is one of the most important lipid-soluble antioxidant nutrient. Severe vitamin e deficiency (VED) can have a profound effect on the central nervous system. VED causes ataxia and peripheral neuropathy that resembles Friedreich's ataxia. We report here a patient presenting this syndrome, but also a prolactin and FSH adenoma. Both the neurological syndromes and the adenoma regressed after treatment with alpha-tocopherol. Although, the presence of the prolactinoma in this patient may not be related to his vitamin e deficiency, alpha-tocopherol treatment seems to be beneficial and might usefully be tested in patients with hypophyseal secreting other forms of adenoma. ( info) |
2/93. Electrophysiologic recovery after vitamin E-deficient neuropathy. A case report is presented of an electrophysiologic recovery from vitamin E-deficient neuropathy after treatment with water-soluble vitamin E in a patient with chronic hepatobiliary disease. The patient was a 64-year-old man who had experienced progressive difficulty in ambulation, with ataxia, over the previous 3 years. The symptoms were associated with pain, tingling sensation in the extremities, and reduced fine motor activity. The patient had chronic hepatobiliary disease, with recurrent cholangitis and external drainage of bile acid through a T-tube for more than 20 years. Vitamin E level was barely detectable (<0.5 mg/L). Sensory conduction was absent in both sural nerves. Other sensory and motor conduction studies in the upper and lower extremities showed decreased amplitude. The patient was treated with water-soluble vitamin E. After 4 months of therapy, his ambulation function improved, but pain and tingling sensation in both hands remained. Sensory nerve action potentials appeared in both sural nerves, and amplitudes of other sensory nerves were increased. In a second follow-up study after 9 months, all of the evaluated parameters in the nerve conduction studies, as well as the vitamin E level, were normal. The authors conclude that vitamin E-deficient neuropathy is reversible and electrophysiologic recovery can occur with water-soluble vitamin E therapy. ( info) |
| We report on 2 brothers (aged 19 and 12 years) with Marinesco-Sjogren syndrome who also had very low serum vitamin E concentrations with an absence of postprandial chylomicrons. The molecular study ruled out ataxia with isolated vitamin e deficiency, abetalipoproteinemia, and hypobetalipoproteinemia. The electron microscopy of the intestinal mucosa was consistent with a chylomicron retention disease. We speculate that both chylomicron retention disease and Marinesco-Sjogren syndrome are related to defects in a gene crucial for the assembly or secretion of the chylomicron particles, leading to very low serum levels of vitamin E. ( info) |
| ceroid (polymerised peroxidised polyunsaturated fatty acids) deposition in the intestine is a result of chronic malabsorption and vitamin e deficiency. This gives the bowel a striking brown colour. Three patients are described with this condition. The macroscopic and microscopic appearances were similar, but the cause of the malabsorption differed. In one patient with polyarteritis there was regression of the pigments with improvement of the malabsorption after treatment with prednisone. ( info) |
5/93. Ataxia caused by mutations in the alpha-tocopherol transfer protein gene. A 48 year old woman with ataxia with vitamin e deficiency is described. Gene analysis identified two point mutations in exon 1 of the alpha-tocopherol transfer protein (alpha-TTP) gene, one missense mutation and an upstream initiation codon mutation in the 5'-untranslated region (Kozak sequence). The latter mutation is the first one identified in the translation regulatory region. This mutation decreased the level of alpha-TTP protein expression. The clinical features included uncommon urinary disturbance and deafness and relatively rare retinitis pigmentosa. Supplementary therapy increased her serum vitamin E concentration to the normal range with mild improvement of the deep senses. ( info) |
6/93. Ataxia with isolated vitamin e deficiency: a clinical, biochemical and genetic diagnosis. A case of ataxia with isolated vitamin e deficiency, in conjunction with supportive genetic studies, is reported. This is a neurodegenerative condition that involves a mutation in the tocopherol (alpha) transfer protein gene (TTPA). Measurement of serum vitamin E concentration should be included as part of the investigations in children with progressive ataxia, even in the absence of fat malabsorption. Early treatment with vitamin E may protect such patients against further neurological damage. ( info) |
7/93. vitamin e deficiency and platelet functional defect in a jaundiced infant. A 16-month-old infant with hepatic fibrosis, cholestasis, and chronic jaundice had signs of vitamin e deficiency, including mild acanthocytosis, thrombocytosis, increased peroxide haemolysis, and absent serum vitamin E. Abormal prothrombin consumption and platelet restocetin aggregation suggested the presence of defective platelet function, and correction studies indicated that this was due to a plasma defect. The abnormality was corrected by treatment with vitamin E, and the findings suggest a possible role of this vitamin in platelet reactions. ( info) |
| PURPOSE: To discuss the clinicopathological findings in a patient with retinitis pigmentosa (RP) accompanied by a vitamin e deficiency caused by an H101Q mutation in the alpha-tocopherol transfer protein (alpha-TTP) gene. CASE: The clinical course of this patient was followed by conventional ophthalmological examinations over a 3-year period. After the patient died from pancreatic cancer, the eyes were obtained, and examined by light and electron microscopy. OBSERVATIONS: The patient complained of night blindness subsequent to adult-onset ataxia, although the ataxia was very mild. His visual acuity was 0.6 OU, and ophthalmoscopy revealed RP sine pigmento. Ring scotomas were detected, and the electroretinography, electro-oculography, and dark-adaptation were altered. fluorescein angiography showed granular hyperfluorescence around the macula. No progression of the visual and neurological symptoms was observed during the 10 years he was taking oral vitamin E. Histopathological examination revealed the loss of the outer and inner segments of the photoreceptors in the area corresponding to the ring scotoma, as well as a disorganization and shortening of the outer segments in the peripheral retina. CONCLUSIONS: We conclude that the clinical and pathological findings in the eyes of this patient having RP with vitamin e deficiency caused by an H101Q mutation are similar to those of common autosomal recessive RP. However, special attention is required in making a diagnosis of RP with vitamin e deficiency because RP with vitamin e deficiency is medically treatable. The mild Friedreich-type ataxia accompanying the RP may be helpful in identifying this disease. ( info) |
9/93. Myoclonic dystonia as unique presentation of isolated vitamin e deficiency in a young patient. We describe a young patient affected by vitamin e deficiency with mutation in the tocopherol transfer protein alleles and the unique presentation as myoclonic dystonia, which was practically the only symptom for 6 years before ataxia became evident. Vitamin E supplementation markedly improved both symptoms. This unusual clinical phenotype must be considered, because isolated vitamin e deficiency is eminently treatable. ( info) |
10/93. A family with spinocerebellar ataxia type 8 expansion and vitamin e deficiency ataxia. BACKGROUND: Ataxia with vitamin e deficiency is a recessive autosomal neurodegenerative disorder resembling the friedreich ataxia phenotype but is due to mutations in the alpha-tocopherol transfer protein (TTPA) gene. In a recent article, we described a patient with ataxia carrying reduced serum vitamin E levels and showing CTA/CTG expansions of 320 triplet repeats in the SCA8 gene. OBJECTIVES: To perform a screening of the TTPA gene in the patient and to evaluate the effects of treatment with vitamin E on the patient's neurologic disturbances. PATIENT AND methods: We performed a single-strand conformation polymorphism and nucleotide sequence analysis of the 5 exons of the TTPA gene in the patient's family members. RESULTS: The results indicated the patient to be a compound heterozygote for 2 mutations (in exon 3), each transmitted by one of the 2 parents, yielding a nonfunctional protein. CONCLUSIONS: We describe for the first time, to our knowledge, a mutated form of the TTPA gene in a patient also carrying an expansion in the SCA8 gene. The lack of improvement in the patient's symptoms on supplementation with alpha-tocopherol suggests that the SCA8 mutations may act in the neurodegeneration process, worsening the neurologic signs caused by the vitamin E deficit, and it could be speculated that the co-occurrence of mutant alleles for 2 distinct loci may influence the clinical course of the disease. ( info) |