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Neuropediatrics 1988; 19(4): 221-223
DOI: 10.1055/s-2008-1052451
DOI: 10.1055/s-2008-1052451
Case report
© Georg Thieme Verlag KG Stuttgart · New York
Arthrogryposis Associated with Connatal Pelizaeus-Merzbacher Disease: Case Report
Weitere Informationen
Publikationsverlauf
Publikationsdatum:
19. März 2008 (online)
Abstract
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.
Key words
Arthrogryposis - Congenital contractures - Leukodystrophy