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[Familial idiopathic vitamin E deficiency associated with cerebellar atrophy]
K Aoki1, Y Washimi, N Fujimori
1Department of Neurology, Iida City Hospital.
Insights
Familial vitamin E deficiency caused ataxia and neurological issues in siblings. Supplementation with alpha-tocopherol acetate significantly improved ataxia, suggesting a selective absorption impairment.
Area of Science:
- Neurology
- Genetics
- Biochemistry
Background:
- Familial cases of vitamin E deficiency present with neurological symptoms like ataxia and polyneuropathy.
- Understanding the genetic basis and specific mechanisms of vitamin E deficiency is crucial for effective treatment.
Observation:
- A 37-year-old male presented with progressive gait disturbance, mental retardation, and sensory deficits since childhood.
- Clinical examination revealed cataracts, facial and limb muscular atrophy, absent reflexes, and severe gait ataxia.
- Laboratory tests showed markedly low serum vitamin E levels, cerebellar atrophy on CT, and neurogenic changes in muscle and nerve biopsies.
Findings:
- The patient exhibited symptoms consistent with severe vitamin E deficiency, including sensory and cerebellar ataxia.
- Oral alpha-tocopherol acetate administration led to significant improvement in ataxia.
- Exclusion of other metabolic disorders and normal vitamin E loading response indicated a selective impairment of vitamin E absorption.
Implications:
- Selective vitamin E absorption impairment can cause significant neurological dysfunction.
- Early diagnosis and alpha-tocopherol acetate supplementation are vital for managing this condition.
- Further research into the specific genetic or molecular mechanisms of this selective absorption defect is warranted.
Abstract:
Sibling cases of familial vitamin E deficiency accompanied by ataxia, polyneuropathy and mental retardation were reported. Case 1 was a 37-year-old male who developed progressive gait disturbance, deformity of the feet and head tremor from childhood, after normal delivery and development of early childhood. On physical examination, he had cataract, high arched palate and pes cavus. Neurological examination revealed mental retardation (WAIS 68), scanning speech, muscular atrophy of the face and extremities with predominance in the lower limbs, absent Achilles tendon reflex, disturbance of superficial and deep sensation predominant in distal limbs, and marked gait ataxia. Ataxia was both cerebellar and sensory in nature. Laboratory data of the blood showed no significant abnormalities including blood glucose and vitamin B12 except a markedly low level of serum vitamin E. The brain CT scan revealed severe cerebellar atrophy and marked dilatation of the cisterna magna and the subarachnoid space around the cerebellum. Motor nerve conduction velocity in the leg was decreased. Biopsy specimen from the quadriceps muscle showed neurogenic atrophy. Sural nerve biopsy revealed decrease in large myelinated fibers with axonal degeneration and regeneration. Oral administration of alpha-tocopherol acetate, 600 mg per day, diminished ataxia significantly. Based on lysosomal enzyme activity in leukocytes, clinical and laboratory examination, lipidosis or spinocerebellar degeneration was excluded. Chronic lipid malabsorption or beta lipoprotein deficiency which can cause decrease in vitamin E absorption, was not recognized. On oral loading with 2 g of alpha-tocopherol acetate, the decrease rate of serum vitamin E was normal. Consequently the low vitamin E was considered to have resulted from selective impairment of vitamin E absorption.(ABSTRACT TRUNCATED AT 250 WORDS)