Byline: Binodini. Behera, D. Jena, R. Chhetia, J. Vijayashree
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.
Hurler syndrome is an autosomal recessive disorder of mucopolysaccharide metabolism caused by a deficiency of the enzyme a-L-iduronidase. The inability to degrade these macromolecules, which are ubiquitous, results in their storage in a variety of tissues including the liver, spleen, heart, connective tissue and others, resulting in premature death, usually by 10 years of age. These disorders display extensive genetic heterogeneity. In addition to somatic features, there may be severe mental retardation. Hurler syndrome represents the classical prototype of a mucopolysaccharide disorder, with a very low prevalence: 1:150,000 births. The diagnosis is usually made between the age of 6 and 24 months with evidence of coarse facial features, prominent forehead with large tongue, hepatosplenomegaly, corneal cloudiness, skeletal deformities, joint stiffness, short stature, acquired cardiomyopathy and progressive lenticular enlargement with increased intracranial pressure caused by communicating hydrocephalus. We present a case, which has not been reported so far, of mucopolysaccharidosis I (MPS-I) with a tuft of hair, in which the diagnosis was made on the basis of the clinical features and confirmed by enzymatic assays.