Myotonic dystrophy type 1 presenting with stroke-like episodes: a case report.
Słowa kluczowe
Abstrakcyjny
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.
METHODS
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.
