Skeletal Dysplasia and Myelopathy in Congenital Disorder of Glycosylation Type IA - 10/08/11
Doi : 10.1016/j.jpeds.2005.08.048
Steven M. Schade van Westrum, MD, Paul J. Nederkoorn, MD, PhD, P. Richard Schuurman, MD, PhD, Tom Vulsma, MD, PhD, Marinus Duran, PhD, Bwee Tien Poll-The, MD, PhD ⁎ 
From the Division of Pediatric Neurology, Department of Pediatrics, Department of Neurosurgery, and Laboratory Genetic Metabolic Diseases, University of Amsterdam, Academic Medical Center, Amsterdam, The Netherlands
Reprint requests: Prof. dr. Bwee Tien Poll-The, Division of Pediatric Neurology, Department of Pediatrics, University of Amsterdam, Academic Medical Center, PO Box 22660, 1100 DD Amsterdam, The Netherlands.Abstract |
We report on a boy with a congenital disorder of glycosylation (CDG) Ia and a severe narrowing of the spinal canal caused by atlantoaxial subluxation with anterior displacement of C1. C1-laminectomy improved the progressive paresis. Progressive paresis caused by spinal cord compression is a hitherto unrecognized complication in patients with CDG-Ia.
Le texte complet de cet article est disponible en PDF.Mots-clés : CDG, Congenital disorders of glycosylation
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© 2006
Elsevier Inc. Tous droits réservés.
Vol 148 - N° 1
P. 115-117 - janvier 2006 Retour au numéro
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