Asymptomatic sporadic dysferlinopathy presenting with elevation of serum creatine kinase. Typical distribution of muscle involvement shown by MRI but not by CT.
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.
Okahashi
Satomi
S
Department of Neurology, Higashisaitama Hospital, National Hospital Organization, Hasuda, Japan.
Ogawa
Go
G
Suzuki
Mikiya
M
Ogata
Katsuhisa
K
Nishino
Ichizo
I
Kawai
Mitsuru
M
D000293:Adolescent; D003402:Creatine Kinase / Q000097:blood*; D000073939:Dysferlin; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008565:Membrane Proteins; D009124:Muscle Proteins; D049288:Muscular Dystrophies, Limb-Girdle / Q000097:blood* / Q000175:diagnosis*; D014057:Tomography, X-Ray Computed
C114839:DYSF protein, human; D000073939:Dysferlin; D008565:Membrane Proteins; D009124:Muscle Proteins; D003402:Creatine Kinase