title: Congenital muscular dystrophy.
abstract: Congenital muscular dystrophy (CMD) is a rare heterogeneous disease found in the oriental population, especially the occidental type of CMD. We report a case of a one-year-old infant who presented with early onset hypotonia, muscular weakness, delayed motor development and normal intelligence. A muscle biopsy revealed dystrophic muscle fibers. A high creatine kinase (CK) level, mostly of the MM type, was also noted. Further study of brain images showed hyperintense lesions in the white matter area. The patient showed the clinical and laboratory findings characteristic of CMD, more likely to be of the occidental type. Further genetic or histopathologic studies, especially merosin investigation, are suggested for improved classification and prognosis prediction.
authors.affiliation: Department of Pediatrics, Taichung Veterans General Hospital, Taiwan, ROC.
authors.forename: F L
authors.initials: FL
authors.lastname: Huang
authors.forename: S C
authors.initials: SC
authors.lastname: Mak
authors.forename: C S
authors.initials: CS
authors.lastname: Chi
mesh_terms: D006801:Humans; D007223:Infant; D008297:Male; D009132:Muscles / Q000473:pathology; D009136:Muscular Dystrophies / Q000151:congenital* / Q000175:diagnosis / Q000473:pathology