Acta neurologica Belgica · 2010
Mitochondrial disorder mimicking ocular myasthenia.
Клинический случайСтатьяНазвание и аннотация: Перевод пока не подготовлен
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Finsterer Josef
Аннотация
OBJECTIVES: Ocular myasthenia (OM) and mitochondrial disorder (MID) may be easily mixed up, if the MID presents with similar manifestations as OM and if MID manifestations progress only slowly.
CASE REPORT: In a 69yo Caucasian female OM was diagnosed at age 54y. Six years after onset the diagnosis was challenged, because the response to cholinergic medication was weak, acetyl-cholin-receptor antibodies were only marginally elevated, creatine-kinase was slightly elevated, and because the patient's mother had developed dementia. Resting lactate was normal but the lactate-stress-test was highly abnormal. Muscle biopsy was indicative of a MID and biochemical investigations revealed a complex I defect.
CONCLUSIONS: MID may be easily mixed up with OM, particularly at onset of a MID with only mild manifestations. The diagnosis of OM should be challenged if untypical clinical features develop or clinical manifestations do not respond to cholinergic medication.
CASE REPORT: In a 69yo Caucasian female OM was diagnosed at age 54y. Six years after onset the diagnosis was challenged, because the response to cholinergic medication was weak, acetyl-cholin-receptor antibodies were only marginally elevated, creatine-kinase was slightly elevated, and because the patient's mother had developed dementia. Resting lactate was normal but the lactate-stress-test was highly abnormal. Muscle biopsy was indicative of a MID and biochemical investigations revealed a complex I defect.
CONCLUSIONS: MID may be easily mixed up with OM, particularly at onset of a MID with only mild manifestations. The diagnosis of OM should be challenged if untypical clinical features develop or clinical manifestations do not respond to cholinergic medication.