title: Cervical cord compression and severe hydrocephalus in a child with Saudi variant of multiple sulfatase deficiency. Report of case.
abstract: We report a 2.5-year-old boy with Saudi variant of multiple sulfatase deficiency (MSD or Austin's disease). He presented with the features of cervical cord compression and a severe form of hydrocephalus. The former was due to a thickened posterior arch of the atlas and the latter from a narrow foramen magnum and meningeal thickening. Decompression of the cord was achieved by removal of the posterior margin of the foramen magnum and posterior arch of the atlas, and followed by a duroplasty. At a later date, ventricular decompression was achieved by insertion of a ventricular-peritoneal shunt. NMR did not demonstrate white matter changes in the brain. In this regard the reported case differs from the earlier description of the Saudi Variant of MSD.
authors.affiliation: Department of Neurosurgery, Riyadh Armed Forces Hospital, Kingdom of Saudi Arabia.
authors.forename: K R
authors.initials: KR
authors.lastname: al-Moutaery
authors.forename: A R
authors.initials: AR
authors.lastname: Choudhury
authors.forename: M O
authors.initials: MO
authors.lastname: Hassanen
mesh_terms: D001921:Brain / Q000473:pathology; D001928:Brain Diseases, Metabolic / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D002675:Child, Preschool; D006801:Humans; D006849:Hydrocephalus / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D008279:Magnetic Resonance Imaging; D008297:Male; D011183:Postoperative Complications; D013116:Spinal Cord / Q000473:pathology; D013117:Spinal Cord Compression / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D013429:Sulfatases / Q000172:deficiency*; D017287:Ventriculoperitoneal Shunt
chemical_list: D013429:Sulfatases