Merosin-negative non-Fukuyama-type congenital muscular dystrophy: a case report.
We report a female infant with non-Fukuyama-type congenital muscular dystrophy with merosin deficiency. She manifested marked hypotonia and muscle weakness from the neonatal period, with an elevated creatine kinase concentration. Her motor developmental milestones were markedly delayed; however, her intellectual development was normal. Although cranial computed tomography (CT) at 3 months of age was normal, subsequent CT at 16 months of age demonstrated diffuse, abnormal white matter lucencies. Muscle biopsy findings at 16 months of age were compatible with those of congenital muscular dystrophy. In addition, no muscle fibers were immunostained by the merosin antibody. The patient died of pneumonia at 23 months of age. These clinical symptoms and CT findings are similar to those described in patients with merosin-negative congenital muscular dystrophy in European countries.
Yamashita
Y
Y
Department of Pediatrics and Child Health, Kurume University School of Medicine, Fukuoka, Japan.
Ohtaka
E
E
Matsuishi
T
T
Osari
S
S
Kobayashi
O
O
Nonaka
I
I
D001921:Brain / Q000000981:diagnostic imaging; D016189:Dystrophin / Q000378:metabolism; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D007797:Laminin / Q000172:deficiency*; D018482:Muscle, Skeletal / Q000473:pathology; D009136:Muscular Dystrophies / Q000000981:diagnostic imaging / Q000235:genetics / Q000378:metabolism*; D014057:Tomography, X-Ray Computed
D016189:Dystrophin; D007797:Laminin