title: A 1-year-old infant with McArdle disease associated with hyper-creatine kinase-emia during febrile episodes.
abstract: 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.
authors.affiliation: 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
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Ito
authors.forename: Kayoko
authors.initials: K
authors.lastname: Saito
authors.forename: Keiko
authors.initials: K
authors.lastname: Shishikura
authors.forename: Haruko
authors.initials: H
authors.lastname: Suzuki
authors.forename: Eriko
authors.initials: E
authors.lastname: Yazaki
authors.forename: Kitami
authors.initials: K
authors.lastname: Hayashi
authors.forename: Tokiko
authors.initials: T
authors.lastname: Fukuda
authors.forename: Masataka
authors.initials: M
authors.lastname: Ito
authors.forename: Hideo
authors.initials: H
authors.lastname: Sugie
authors.forename: Makiko
authors.initials: M
authors.lastname: Osawa
mesh_terms: 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
chemical_list: D006003:Glycogen; D024981:Glycogen Phosphorylase; D003402:Creatine Kinase