Hurler syndrome with a tuft of hair.

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.

• Authors: Binodini Behera, D K Jena, R Chhetia, J Vijayashree
• Journal: Indian journal of dermatology, venereology and leprology (Indian J Dermatol Venereol Leprol) 2006 Mar-Apr Vol. 72 Issue 2 Pg. 147-9 ISSN: 0378-6323 [Print] United States
• PMID: 16707825 (Publication Type: Case Reports, Journal Article)

Topics

• Child, Preschool
• Female
• Hair (pathology)
• Hematopoietic Stem Cell Transplantation
• Humans
• Mucopolysaccharidosis I (diagnosis, pathology, therapy)