Hurler syndrome with a tuft of hair.
Indian J Dermatol Venereol Leprol
;
2006 Mar-Apr; 72(2): 147-9
Artículo
en Inglés
| IMSEAR
| ID: sea-52602
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.
Texto completo:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Femenino
/
Humanos
/
Preescolar
/
Mucopolisacaridosis I
/
Trasplante de Células Madre Hematopoyéticas
/
Cabello
Idioma:
Inglés
Revista:
Indian J Dermatol Venereol Leprol
Año:
2006
Tipo del documento:
Artículo
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