A case of limb-girdle muscular dystrophy with serum anti-nuclear antibody which led to a mistaken diagnosis of polymyositis.
A 45-year-old woman had first been diagnosed with polymyositis because of the presence of focal necrosis, regeneration and inflammatory infiltration in the muscle fibers, and elevated creatinine phosphokinase levels. However, a pathological re-evaluation and family history led to the definite diagnosis of limb-girdle muscular dystrophy (MD). This case suggests that MD should be taken into consideration in the differential diagnosis of the inflammatory myopathies and genetic surveys including dystrophin molecule may be necessary if the condition manifests during or after adolescence, or when the family history is uninformative. In this case, the serum anti-nuclear antibody was positive, and it may represent the first time that ANA positivity has been found in limb-girdle MD.
Funauchi
M
M
Division of Hematology, Nephrology and Rheumatology, Kinki University School of Medicine, 377-2 Ohno-Higashi, Osaka-Sayama 589-8511, Osaka, Japan.
Nozaki
Y
Y
Yoo
B S
BS
Kinoshita
K
K
Kanamaru
A
A
D000974:Antibodies, Antinuclear / Q000097:blood*; D003951:Diagnostic Errors; D005260:Female; D006801:Humans; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis*; D017285:Polymyositis / Q000175:diagnosis*
D000974:Antibodies, Antinuclear