TITLE

Hurler syndrome with a tuft of hair

AUTHOR(S)
Behera, Binodini; Jena, D. K.; Chhetia, R.; Vijayashree, J.
PUB. DATE
March 2006
SOURCE
Indian Journal of Dermatology, Venereology & Leprology;Mar/Apr2006, Vol. 72 Issue 2, p147
SOURCE TYPE
Academic Journal
DOC. TYPE
Report
ABSTRACT
A 2-year-old girl presented with coarse, thick hairy skin all over the body, a tuft of hair in the parietal region, coarse facial features and a prominent forehead with a large tongue, hepatosplenomegaly and skeletal deformities. Mucopolysaccharides excretion spot test of the urine was positive; and an assay for glycosaminoglycans in the urine was also high, which confirmed the clinical diagnosis of Hurler syndrome. We present this rare case to discuss the possibility of the association of mental retardation with a tuft of hair in this syndrome.
ACCESSION #
20934717

Tags: ABNORMALITIES, Human;  PEOPLE with mental disabilities;  MUCOPOLYSACCHARIDES;  MEDICAL care;  DEVELOPMENTAL disabilities;  DISEASES

 

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