期刊
FRONTIERS IN NEUROLOGY
卷 13, 期 -, 页码 -出版社
FRONTIERS MEDIA SA
DOI: 10.3389/fneur.2022.1010150
关键词
adult-onset Krabbe disease; brain MRI; GALC gene; MELAS syndrome; progressive myoclonic epilepsy
Krabbe disease (KD), a rare autosomal recessive condition, usually occurs in infants and young children but can also manifest in adults. This case report describes an adult-onset KD with progressive myoclonic epilepsy and cortical lesions, caused by a homozygous missense mutation in the GALC gene. Brain MRI revealed cortical ribbon sign. This case expands the clinical phenotypes of adult-onset KD.
Krabbe disease (KD), also known as globoid cell leukodystrophy, is a rare autosomal recessive condition caused by mutations in the galactocerebrosidase (GALC) gene. KD is more common in infants and young children than in adults. We reported the case of an adult-onset KD presenting with progressive myoclonic epilepsy (PME) and cortical lesions mimicking mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome. The whole-exome sequencing (WES) identified a pathogenic homozygous missense mutation of the GALC gene. Parents of the patient were heterozygous for the mutation. The clinical, electrophysiological, and radiological data of the patient were retrospectively analyzed. The patient was a 24-year-old woman presenting with generalized seizures, progressive cognitive decline, psychiatric symptoms, gait ataxia, and action-induced myoclonus. The brain magnetic resonance imaging (MRI) revealed a right occipital cortical ribbon sign without any other damage. This single case expands the clinical phenotypes of adult-onset KD.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据