Archives of neurology · 2012
Adult-onset cerebral folate deficiency.
Клинический случайСтатьяНазвание и аннотация: Перевод пока не подготовлен
Обработка статьи · этапы, ошибки и управление
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История · было → стало
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Sadighi Zsila, Butler Ian J, Koenig Mary Kay
Аннотация
OBJECTIVE: To report new manifestations of cerebral folate deficiency, a rare metabolic autoimmune syndrome,in an adult.
DESIGN: Case report.
SETTING: University teaching hospital.
PATIENT: A 58-year-old woman with progressive memory loss and myoclonus presented for medical attention. Results of cerebral spinal fluid analysis showed low levels of tetrahydrobiopterin and 5-methyltetrahydrofolate. The patient's serum folate level was normal. Serum contained folate receptor 1 blocking and binding antibodies.
RESULTS: The patient was treated successfully with folinic acid supplementation, and after 6 months of treatment,clinical symptoms had resolved.
CONCLUSIONS: To our knowledge, we report the first case of adult-onset cerebral folate deficiency. Furthermore, this condition could represent a treatable form of early-onset dementia.
DESIGN: Case report.
SETTING: University teaching hospital.
PATIENT: A 58-year-old woman with progressive memory loss and myoclonus presented for medical attention. Results of cerebral spinal fluid analysis showed low levels of tetrahydrobiopterin and 5-methyltetrahydrofolate. The patient's serum folate level was normal. Serum contained folate receptor 1 blocking and binding antibodies.
RESULTS: The patient was treated successfully with folinic acid supplementation, and after 6 months of treatment,clinical symptoms had resolved.
CONCLUSIONS: To our knowledge, we report the first case of adult-onset cerebral folate deficiency. Furthermore, this condition could represent a treatable form of early-onset dementia.