Unusual clinical presentation in two cases of multiple sulfatase deficiency

M. E. Blanco-Aguirre, S. H. Kofman-Alfaro, M. R. Rivera-Vega, C. Medina, M. Valdes-Flores, W. B. Rizzo, S. A. Cuevas-Covarrubias

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Abstract

Multiple sulfatase deficiency (MSD) is an inborn error of metabolism that combines the clinical features of late infantile metachromatic leukodystrophy and mucopolysaccharidosis. The characteristic biochemical abnormality is a reduction in the activities of several sulfatases, with consequent tissue accumulation of sulfatides, sulfated glycosaminoglycans, sphingolipids, and steroid sulfates. In this study we present two unusual cases of MSD with variable enzymatic deficiency of arylsulfatases A, B, and C. Both patients had ichthyosis, broad thumbs and index fingers, an unusually slow progression of the neurologic symptoms, and lacked the hepatosplenomegaly that is typical of MSD. Olivopontocerebellar atrophy was present and one patient had a large retrocerebellar cyst. Mucopolysaccharides were not detected in the urine from either subject. Leukocyte arylsulfatase A activity in patient 1 was 0.46 nmol/mg protein/hr and in patient 2 was 0.0 nmol/ mg protein/hr (normal 0.7-5.0 nmol/mg protein/hr). Leukocyte arylsulfatase B activity in patient 1 was 24 nmol/mg protein/hr and in patient 2 was 22 nmol/mg protein/hr (normal 115-226 nmol/mg protein/hr). Leukocyte arylsulfatase C in patient 1 was 0.30 pmol/mg protein/hr and in patient 2 was 0.28 pmol/mg protein/hr (normal 0.84 pmol/mg protein/ hr). In conclusion, these two patients with MSD had mild clinical presentations not previously reported and variable enzymatic deficiency of arylsulfatases A, B, and C.

Original languageEnglish (US)
Pages (from-to)388-392
Number of pages5
JournalPediatric dermatology
Volume18
Issue number5
DOIs
Publication statusPublished - Nov 29 2001

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ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Dermatology

Cite this

Blanco-Aguirre, M. E., Kofman-Alfaro, S. H., Rivera-Vega, M. R., Medina, C., Valdes-Flores, M., Rizzo, W. B., & Cuevas-Covarrubias, S. A. (2001). Unusual clinical presentation in two cases of multiple sulfatase deficiency. Pediatric dermatology, 18(5), 388-392. https://doi.org/10.1046/j.1525-1470.2001.01959.x