Hurler syndrome with a tuft of hair.
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.
Behera
Binodini
B
Department of Skin, V. D. and Leprosy, SCB Medical College, Cuttack, Orissa, India. ctk_drmmsahu@sancharnet.in
Jena
D K
DK
Chhetia
R
R
Vijayashree
J
J
D002675:Child, Preschool; D005260:Female; D006197:Hair / Q000473:pathology*; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D008059:Mucopolysaccharidosis I / Q000175:diagnosis* / Q000473:pathology / Q000628:therapy