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Multiple sulphatase deficiency with early onset

Authors :
J. Libert
N. Bousard
N. Perlmutter
Eszter Vamos
Ingeborg Liebaers
Department of Embryology and Genetics
Source :
Journal of Inherited Metabolic Disease. 4:103-104
Publication Year :
1981
Publisher :
Wiley, 1981.

Abstract

This male infant was first brought to attention in the neonatal period because he presented clinical and radiological evidence of multiple bone deformities. He was readmitted at 2 1/2 months for hydrocephaly, hepatosplenomegaly and poor somatic and psychomotor development. In addition, coarse facies, corneal opacities and stiff joints were noticed. Bone X-ray anomalies and vacuolized lymphocytes supported the clinical presumption of lysosomal storage disorder. The diagnosis of multiple sulphatase deficiency rests on the presence of MPS and sulphatides in the urine, the finding of a mixed storage process in conjunctival biopsy and the demonstration of deficiencies in arylsulphatases A, B, C, iduronate sulphatase and heparan sulphatase in serum, leukocytes and cultured fibroblasts.

Details

ISSN :
15732665 and 01418955
Volume :
4
Database :
OpenAIRE
Journal :
Journal of Inherited Metabolic Disease
Accession number :
edsair.doi.dedup.....d00bbcfe3c290cb6dfe6d35789ff8040
Full Text :
https://doi.org/10.1007/bf02263612