Skeletal dysplasia and myelopathy in congenital disorder of glycosylation type IA.
case_report · Level V
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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.
Medical subject headings
- Congenital Disorders of Glycosylation
- Musculoskeletal Abnormalities
- Spinal Cord Diseases