title: Skeletal dysplasia and myelopathy in congenital disorder of glycosylation type IA.
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.
authors.affiliation: Division of Pediatric Neurology, Department of Pediatrics, University of Amsterdam, Academic Medical Center, Amsterdam, The Netherlands.
authors.forename: Steven M
authors.initials: SM
authors.lastname: Schade van Westrum
authors.forename: Paul J
authors.initials: PJ
authors.lastname: Nederkoorn
authors.forename: P Richard
authors.initials: PR
authors.lastname: Schuurman
authors.forename: Tom
authors.initials: T
authors.lastname: Vulsma
authors.forename: Marinus
authors.initials: M
authors.lastname: Duran
authors.forename: Bwee Tien
authors.initials: BT
authors.lastname: Poll-The
mesh_terms: D018981:Congenital Disorders of Glycosylation / Q000150:complications*; D019299:Decompression, Surgical; D002658:Developmental Disabilities / Q000209:etiology; D020820:Dyskinesias / Q000209:etiology; D006801:Humans; D007223:Infant; D008297:Male; D009139:Musculoskeletal Abnormalities / Q000150:complications* / Q000000981:diagnostic imaging; D010291:Paresis / Q000209:etiology / Q000601:surgery; D011859:Radiography; D013117:Spinal Cord Compression / Q000150:complications / Q000000981:diagnostic imaging / Q000601:surgery; D013118:Spinal Cord Diseases / Q000150:complications* / Q000601:surgery; D016896:Treatment Outcome