Skeletal dysplasia and myelopathy in congenital disorder of glycosylation type IA

Steven M Schade van Westrum; Paul J Nederkoorn; P Richard Schuurman; Tom Vulsma; Marinus Duran; Bwee Tien Poll-The

doi:10.1016/j.jpeds.2005.08.048

Skeletal dysplasia and myelopathy in congenital disorder of glycosylation type IA

J Pediatr. 2006 Jan;148(1):115-7. doi: 10.1016/j.jpeds.2005.08.048.

Authors

Steven M Schade van Westrum¹, Paul J Nederkoorn, P Richard Schuurman, Tom Vulsma, Marinus Duran, Bwee Tien Poll-The

Affiliation

¹ Division of Pediatric Neurology, Department of Pediatrics, University of Amsterdam, Academic Medical Center, Amsterdam, The Netherlands.

PMID: 16423609
DOI: 10.1016/j.jpeds.2005.08.048

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.

Publication types

Case Reports

MeSH terms

Congenital Disorders of Glycosylation / complications*
Decompression, Surgical
Developmental Disabilities / etiology
Dyskinesias / etiology
Humans
Infant
Male
Musculoskeletal Abnormalities / complications*
Musculoskeletal Abnormalities / diagnostic imaging
Paresis / etiology
Paresis / surgery
Radiography
Spinal Cord Compression / complications
Spinal Cord Compression / diagnostic imaging
Spinal Cord Compression / surgery
Spinal Cord Diseases / complications*
Spinal Cord Diseases / surgery
Treatment Outcome