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Saudi Variant of Multiple Sulfatase Deficiency

Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh Armed Forces Hospital, Riyadh, Saudi Arabia

P.T. Ozand, MD, PhD

Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Department of Biological and Medical Research, King Faisal Specialist Hospital and Research Centre

J. Brismar, MD, PhD

Department of Radiology, King Faisal Specialist Hospital and Research Centre

G.G. Gascon

Department of Pediatrics, King Faisal Specialist Hospital and Research Centre

G. Brismar, MD

Department of Ophthalmology, King Faisal Specialist Hospital and Research Centre

M. Nester, PhD

N. Sakati, MD

Department of Pediatrics, King Faisal Specialist Hospital and Research Centre

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. (J Child Neurol 1992;7(Suppl):S12-S21.)

Journal of Child Neurology, Vol. 7, No. 1 Suppl, S12-S21 (1992)
DOI: 10.1177/08830738920070010311


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				P. T. Ozand, E. B. Devol, and G. G. Gascon Neurometabolic Diseases at a National Referral Center: Five Years Experience at the King Faisal Specialist Hospital and Research Centre J Child Neurol, April 1, 1992; 7(1_suppl): S4 - S11. [Abstract] [PDF]