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PubMed · 16366193

Hurler's disease.

Gautam Bhaduri·Soumya Chatterjee·Ajay De Sarkar·Shyama Prosad Mukherjee·Amit Todani
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Abstract

Hurler's disease, also known as mucopolysaccharidoses 1H, an autosomal recessive disease due to enzyme alpha-iduronidase deficiency has generally a spectrum of findings involving the eye, skeletal abnormality, organomegaly, joint stiffness, hernia, mental retardation and cardiovascular abnormalities. The two cases presented here are related to each other as brother of 9 years age and sister of 7 years of age with their parents had consanguineous marriage. On ocular examination in both the cases there was dense bilateral corneal opacities. Glycosaminoglycan's level was found to be 4 mg/mmol cr in the first case and 5 mg/mmol cr in the second case. In the first case no ocular treatment was planned and in the second case penetrating keratoplasty was the choice of management.

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ChildDiagnosis, DifferentialFemaleHumansKeratoplasty, PenetratingMaleMucopolysaccharidosis ICase ReportsJournal Article

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Gautam Bhaduri, Soumya Chatterjee, Ajay De Sarkar, Shyama Prosad Mukherjee, Amit Todani. 2005. Hurler's disease.. https://pubmed.ncbi.nlm.nih.gov/16366193/

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