title: Congenital muscular dystrophy: report of one case.
abstract: A case is reported of a newborn who presented with generalized hypotonia shortly after delivery. Creatine kinase (CK) was highly elevated. Muscle biopsy of the rectus femoris muscle revealed varying sized muscle fibers, displacement by fat and connective tissues, necrosis and regeneration of the muscle fibers. Magnetic resonance imaging (M.R.I.) of the brain showed normal development, compatible with the patient's age. Congenital muscular dystrophy was diagnosed from clinical manifestations, laboratory findings, and the results of muscle biopsy.
authors.affiliation: Department of Pediatrics, Taipei Medical College Hospital, Taiwan, R.O.C.
authors.forename: W H
authors.initials: WH
authors.lastname: Liang
authors.forename: J T
authors.initials: JT
authors.lastname: Lin
authors.forename: L C
authors.initials: LC
authors.lastname: Hsiao
authors.forename: S T
authors.initials: ST
authors.lastname: Lin
mesh_terms: D001921:Brain / Q000473:pathology; D003238:Connective Tissue / Q000473:pathology; D003402:Creatine Kinase / Q000097:blood; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D018482:Muscle, Skeletal / Q000473:pathology; D009136:Muscular Dystrophies / Q000151:congenital* / Q000175:diagnosis; D009336:Necrosis
chemical_list: D003402:Creatine Kinase