The improvement in diagnosis and epilepsy managing in children with progressive myoclonus epilepsy during the last decade — A tertiary center experience in cohort of 51 patients

Kravljanac, Ružica; Tadić, Biljana Vučetić; Djordjevic, Maja; Lalic, Tanja; Kravljanac, Djordje; Cerović, Ivana

doi:10.1016/j.yebeh.2020.107456

Cited by 5 publications

(1 citation statement)

References 22 publications

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“…PME usually appears in late childhood or adolescence with myoclonus, multiple seizure types, cerebellar symptoms, and a progressive degeneration of neurological function (5). The most common causes of PME are lysosomal storage disorders (e.g., neuronal ceroid-lipofuscinoses, Gaucher disease, and sialidosis), mitochondrial disorders (e.g., myoclonic epilepsy with ragged red fibers), spinocerebellar ataxia, Lafora disease, and Unverricht-Lundborg disease (6). Delays in diagnosis are common due to the lack of disease awareness, non-specific clinical presentation, and limited access to diagnostic testing resources in some areas.…”

Section: Discussionmentioning

confidence: 99%

Adult-onset Krabbe disease presenting with progressive myoclonic epilepsy and asymmetric occipital lesions: A case report

Wang

Wang²,

Li³

et al. 2022

Front. Neurol.

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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.

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Section: Discussionmentioning

confidence: 99%