Internal Medicine
Online ISSN : 1349-7235
Print ISSN : 0918-2918
ISSN-L : 0918-2918
CASE REPORTS
Asymptomatic Sporadic Dysferlinopathy Presenting with Elevation of Serum Creatine Kinase. Typical Distribution of Muscle Involvement Shown by MRI but not by CT
Satomi OkahashiGo OgawaMikiya SuzukiKatsuhisa OgataIchizo NishinoMitsuru Kawai
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JOURNALS OPEN ACCESS

2008 Volume 47 Issue 4 Pages 305-307

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Abstract

We report an 18-year-old man with elevation of the creatine kinase (CK) level to 11,068 IU/L. There was no muscle atrophy or fat replacement on CT while muscles in the posterior compartment of lower legs showed high T2 signal intensity on MRI. We performed muscle biopsy from the gastrocnemius muscle. Immunohistochemical analysis demonstrated an absence of dysferlin leading to a diagnosis of preclinical dysferlinopathy. Typical distribution of muscle involvement was demonstrated not by CT but by MRI which may have contributed to facilitating diagnosing the earliest stage of preclinical dysferlinopathy, presenting with asymptomatic elevation of serum creatine kinase.

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© 2008 by The Japanese Society of Internal Medicine
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