Journal of the Indian Medical Association · 2005
Hurler's disease.
Клинический случайСтатьяНазвание и аннотация: Перевод пока не подготовлен
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Bhaduri Gautam, Chatterjee Soumya, Sarkar Ajay De, Mukherjee Shyama Prosad, Todani Amit
Аннотация
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.