A 1-year-old infant with McArdle disease associated with hyper-creatine kinase-emia during febrile episodes.
A 14-month-old girl was hospitalized due to repeated hyper-creatine kinase (CK)-emia during pyrexia. Mild hypotonia was observed, but other physical and neurological findings were unremarkable. The serum CK level was normal at rest or normothermia. Open muscle biopsy was performed on the rectus femoris, and showed glycogen storage and complete lack of phosphorylase activity histochemically and biochemically, establishing the diagnosis of McArdle disease. The diagnosis of McArdle disease in early infancy is uncommon. Until this study there have been no reports of clinical symptoms or muscle biopsy findings for McArdle disease in early childhood. This disease must be considered when transient hyper-CKemia is observed in infants, even if glycogen storage is unremarkable as compared with adult cases.
Ito
Yasushi
Y
Department of Pediatrics, Tokyo Women's Medical University, School of Medicine, 8-1 Kawada-cho, Shinjuku-ku, Tokyo 162-8666, Japan. ymitoh@cf6.so-net.ne.jp
Saito
Kayoko
K
Shishikura
Keiko
K
Suzuki
Haruko
H
Yazaki
Eriko
E
Hayashi
Kitami
K
Fukuda
Tokiko
T
Ito
Masataka
M
Sugie
Hideo
H
Osawa
Makiko
M
D001706:Biopsy; D003402:Creatine Kinase / Q000097:blood*; D005260:Female; D005334:Fever / Q000150:complications*; D006003:Glycogen / Q000378:metabolism; D024981:Glycogen Phosphorylase / Q000172:deficiency; D006012:Glycogen Storage Disease Type V / Q000097:blood / Q000150:complications* / Q000503:physiopathology*; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D008854:Microscopy, Electron; D018482:Muscle, Skeletal / Q000201:enzymology / Q000473:pathology / Q000648:ultrastructure
D006003:Glycogen; D024981:Glycogen Phosphorylase; D003402:Creatine Kinase