Summary
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.
Similar content being viewed by others
References
Al-Aqeel A, Ozand PT, Brismar J, Gascon GG, Brismar G, Nester M, Sakati N (1992) Saudi variant of multiple sulfatase deficiency. J Child Neurol 7 [Suppl]: S 12-S 21
Austin J, Armstrong D, Shearer L (1965) Metachromatic form of diffuse cerebral sclerosis. V. The nature and significance of low sulfatase activity: a controlled study of brain, liver and kidney in four patients with metachromatic leukodystrophy (MLD). Arch Neurol 13: 593–614
Austin JH (1972) Studies in metachromatic leukodystrophy. XII. Multiple sulfatase deficiency. Arch Neurol 28: 258–264
Bateman JB, Philippart M, Eisenberg SJ (1984) Ocular features of multiple sulfatase deficiency and a new variant of metachromatic leukodystrophy. J Pediatr Ophthalmol Strabismus 21: 133–139
Burch M, Fensom AH, Jackson M, Pitts-Tucker T, Congdon PJ (1986). Multiple sulfatase deficiency presenting at birth. Clint Genet 30: 409–415
Burk RD, Valle D, Thomas GH, Miller C, Moser A, Moser H, Rosenbaum KN (1984) Early manifestations of multiple sulfatase deficiency. J Pediatr 104: 574–578
Kolodny EH (1989) In metabolic basis of inherited disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) McGrow-Hill, New York, pp 1721–1750
Soong BW, Casamassima AC, Fink JK, Constantopoulos G, Horwitz AL (1988) Multiple sulfatase deficiency. Neurology 38: 1273–1275
Tanaka A, Hirabayashi M, Ishii M, Yamaoka S, Kawamura M, Nishida M, Isshiki G (1987) Complementation studies with clinical and biochemical characterizations of a new variant of multiple sulfatase deficiency. J Inherited Metab Dis 10: 103–110
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Al-Moutaery, K.R., Choudhury, A.R. & Hassanen, M.O. Cervical cord compression and severe hydrocephalus in a child with Saudi variant of multiple sulfatase deficiency. Acta neurochir 131, 160–163 (1994). https://doi.org/10.1007/BF01401468
Issue Date:
DOI: https://doi.org/10.1007/BF01401468