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Congenital muscular dystrophy: report of one case
W H Liang1, J T Lin, L C Hsiao
1Department of Pediatrics, Taipei Medical College Hospital, Taiwan, R.O.C.
Zhonghua Minguo Xiao Er Ke Yi Xue Hui Za Zhi [Journal]. Zhonghua Minguo Xiao Er Ke Yi Xue Hui
|November 1, 1995
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.