脂肪瘤病和视神经病变确诊为肌阵挛性癫痫伴破碎红纤维（MERRF）综合征。
Lipomatosis and optic neuropathy clinches the diagnosis of myoclonic epilepsy with ragged red fibres (MERRF) syndrome.
作者信息
Jeeva-Patel Trishal, Freund Paul, Margolin Edward A
机构信息
Ophthalmology and Vision Sciences, University of Toronto, Toronto, Ontario, Canada.
Ophthalmology and Vision Sciences, University of Toronto, Toronto, Ontario, Canada
出版信息
BMJ Case Rep. 2021 Mar 25;14(3):e240463. doi: 10.1136/bcr-2020-240463.
Abstract
We present a rare case of myoclonic epilepsy with ragged red fibres with high level of heteroplasmy presenting with optic neuropathy and a rare phenotype of lipomatosis. Cutaneous lipomas are typically thought of as a benign/isolated entity and this case emphasises importance of considering mitochondrial disease in all patients with lipomatosis especially in the presence of other systemic abnormalities.
摘要
我们报告了一例罕见的伴有破碎红纤维的肌阵挛性癫痫，其异质性水平较高，表现为视神经病变和一种罕见的脂肪瘤病表型。皮肤脂肪瘤通常被认为是一种良性/孤立性病变，该病例强调了在所有脂肪瘤病患者中，尤其是存在其他全身异常的情况下，考虑线粒体疾病的重要性。
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