Arthrogryposis associated with connatal Pelizaeus-Merzbacher disease: case report.
A newborn with multiple congenital contractures (MCC) or arthrogryposis multiplex congenita and a leukodystrophy is described. The clinical features and neurophysiological studies suggested a disorder primarily involving the central white matter. The diagnosis of connatal Pelizaeus-Merzbacher disease was made post mortem. This disorder of myelin formation should be considered in infants presenting with arthrogryposis.
Novotny
E J
EJ
Department of Neurology, Stanford University Medical School, CA 94305.
D001176:Arthrogryposis / Q000150:complications* / Q000473:pathology; D001921:Brain / Q000473:pathology*; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000150:complications* / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009132:Muscles / Q000473:pathology