Download PDF
Neuropediatrics 1988; 19(4): 221-223
DOI: 10.1055/s-2008-1052451
Case report

© Georg Thieme Verlag KG Stuttgart · New York

Arthrogryposis Associated with Connatal Pelizaeus-Merzbacher Disease: Case Report

E. J. Novotny, Jr.
  • Department of Neurology, Division of Pediatric Neurology, Stanford University Medical School, Stanford, CA 94305, USA.
    Current address: Department of Neurology, Magnetic Resonance Center, Rm 133, Yale University Medical School, 333 Cedar Street, New Haven, CT 06510, USA
Further Information

Publication History

Publication Date:
19 March 2008 (online)

Also available at
  PDF Download  Permissions and Reprints

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