Introduction/Objectives:
Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystemic disorder that affects skeletal and smooth muscle as well as the eye, heart, endocrine system, and central nervous system (CNS), caused by CTG repeat expansion on the chromosome 19q. In some patients CNS white matter abnormalities are very extensive, with clinical symptoms including mental changes, hypersomnia, stroke-like episodes and seizures.
Participants, Materials/Methods:
We report two unrelated patients with DM1.
Results:
One patient, 50-year-old woman, at the time of clinical examination manifested mild temporal and bulbar muscle weakness, slight flexor neck, distal limb weakness, mild intermittent myotonia. She have bilateral cataract, sterility, without cardiac pathology. Elevated CK (274 U/l). Generalized myotonia and myopathic changes in EMG. Skeletal muscle biopsy compatible with myotonic dystrophy. Cerebrospinal fluid (CSF) was normal without immunological activity. The other patient was 37-year-old man. Clinical examination revealed severe temporal, ocular and bulbar muscle weakness, anterior neck and distal limb muscle weakness, mild myotonia as well as the frontal balding, sterility, bilateral cataract, severe myocardiopathy, elevated CK (280 U/l), generalized myotonia and myopathic changes in EMG, muscle biopsy compatible with DM1. CSF was normal. MRI of the brain in two patients: bilateral, multifocal, subcortical white matter changes, paraventricular and in brain steam, hyperin-tense on T2-weighted and proton density-weighted images. MRI of cervical spinal cord and MRI cerebral angiography were normal.
Conclusions:
We found definite MRI abnormalities in 2 patients with DM1. The morphology underlying this leucoencephalopathy is unknown. Examination of the CSF gave no evidence of an inflammatory process, excluding multiple sclerosis. These changes are probably with vascular etiology, and they are part from wide spectrum of musltisystemic disorders in DM1.
