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Multiple sulphatase deficiency with early onset
- 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.
- Subjects :
- Male
Arylsulphatases
Abnormalities, Multiple/etiology
Pathology
medicine.medical_specialty
Hepatosplenomegaly
Bone and Bones
Conjunctival biopsy
Chondro-4-Sulfatase
Multiple sulfatase deficiency
Genetics
medicine
Humans
Coarse facies
Abnormalities, Multiple
Cerebroside-Sulfatase
Genetics (clinical)
Arylsulfatases
Mucopolysaccharidosis II
Early onset
Multiple sulphatase deficiency
Chemistry
Infant
medicine.disease
Bone and Bones/abnormalities
Steryl-Sulfatase
Iduronate sulphatase
Heparitin Sulfate
Sulfatases
medicine.symptom
Subjects
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