title: Saudi variant of multiple sulfatase deficiency.
abstract: We describe eight patients with multiple sulfatase deficiency (MSD, or Austin's disease) who differ phenotypically from classic neonatal-, childhood-, or juvenile-onset MSD. The age of onset was in childhood. The patients presented with somatic and facial features of mucopolysaccharidosis reminiscent of Maroteaux-Lamy and Morquio syndromes. They differed from classic MSD by the presence of corneal cloudiness, macrocephaly, severe dysostosis multiplex, and gibbus and the absence of ichthyosis, retinal degeneration, severe deafness, severe mental retardation, and dementia. The main neurologic presentation was cervical cord compression due to axis abnormalities. Despite neuroradiologic evidence of white-matter changes, neurologic presentation was not like metachromatic leukodystrophy. The sulfatase deficiencies were more marked than in the classic juvenile form of MSD, but less marked than in the classic childhood-onset form of MSD. Steroid sulfatase activity was spared except in one patient. This Saudi variant of MSD accounts for 5% of all lysosomal storage diseases in the Cell Repository Registry of our Inborn Errors of Metabolism Laboratory.
authors.affiliation: Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
authors.forename: A
authors.initials: A
authors.lastname: al Aqeel
authors.forename: P T
authors.initials: PT
authors.lastname: Ozand
authors.forename: J
authors.initials: J
authors.lastname: Brismar
authors.forename: G G
authors.initials: GG
authors.lastname: Gascon
authors.forename: G
authors.initials: G
authors.lastname: Brismar
authors.forename: M
authors.initials: M
authors.lastname: Nester
authors.forename: N
authors.initials: N
authors.lastname: Sakati
mesh_terms: D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D003241:Consanguinity; D003431:Cross-Cultural Comparison; D003906:Developing Countries; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D007223:Infant; D007966:Leukodystrophy, Metachromatic / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009460:Neurologic Examination; D012529:Saudi Arabia; D013429:Sulfatases / Q000172:deficiency*
chemical_list: D013429:Sulfatases