A case of recurrent stroke associated with myotonic dystrophy.

Abstract

Background and Significance: Myotonic dystrophy is an autosomal dominant inherited multiorgan disorder with face and limb weakness, chest and cardiac involvement, hormonal imbalance, cataract, and insulin resistance. Recently, CNS involvement of myotonic dystrophy was reported in several studies. Emotional and cognitive impairments are thought to be associated with white matter involvement and atrophy on MRI. We report a patient of myotonic dystrophy presented with recurrent stroke.

Case: A 48-old man presented with suddenly developed dysarthria and right hemiparesis. On history examination, he experienced cataract operation and left MCA territory infarction 5 years ago. He has suffered from type 2 diabetes mellitus and hyperlipidemia for 2 years. There is no definite abnormality in his family. Baldness and bilateral ptosis were observed. Physical and neurological examinations revealed percussion myotonia, napkin-ring sign, limb muscle wasting and atrophy, and bitemporal atrophy. Diffusion-weighted MRI showed focal subacute infarction in left temporo-occipital trigone. T2-weigned MRI showed hyperintensities in bilateral temporal lobes, and periventricular and frontotemporal subcortical regions. When needle was insertion and muscle contraction was performed, EMG showed frequently bursts of dense fasciculations or positive sharp waves of the wax and waning pattern. On cognitive and psychological examinations, he had depressed mood and dyscalculation. His myopathic symptoms are slowly progressive pattern during 5 years. In the laboratory findings, He had high levels of muscle enzymes(LDH, CPK, CK-MB, Myoglobin), 2 hours-postprandial serum glucose, and serum triglyceride.

Conclusion and Comment: The CNS manifestations associated with myotonic dystrophy is mainly cognitive dysfunction and mood change. But, recurrent stroke with diffuse white matter involvement in myotonic dystrophy is rare, and not reported in Korea. We report a case of myotonic dystrophy associated with recurrent stroke.