Myotonic dystrophy type 1 presenting with stroke-like episodes: A case report

Abstract

Background: It is well known that myotonic dystrophy type 1 (DM1) - Curschmann-Steinert disease - is associated with white matter lesions in the brain. Further, DM1 patients may suffer from cardiac involvement and cardioembolic strokes. We report on the unique case of an adult-onset DM1 without cardiac or vascular abnormalities presenting with stroke-like episodes. Case presentation. A 40 y old white female was admitted twice to our stroke unit with apoplectic dizziness, nausea, headaches, and numbness in the right arm. She was suffering from type 2 diabetes, cataract, and endometriosis. Magnetic resonance imaging (MRI) revealed confluent white matter lesions in all cerebral lobes. There was no hyperintensity on diffusion-weighted imaging (DWI) and no gadolinium enhancement. Cerebrospinal fluid was normal. Surprisingly, myotonic discharges were detected in electromyography (EMG). Genetic testing revealed 200 ± 10 CTG repeats in the dystrophia myotonica protein kinase (DMPK) gene on chromosome 19 and DM1 was diagnosed. Conclusions: DM1 may be the cause of cerebral white matter lesions. This is the first case of DM1 presenting with stroke-like episodes. © 2013 Rollnik et al.; licensee BioMed Central Ltd.