I-cell Disease (Mucolipidosis II ) A Case Report

Abstract

I-cell disease is a lysosomal storage disease and is characterized by severe psychomotor retardation and by many of the clinical features that are seen in Hurler syndrome. However, the onset is earlier, and the signs and symptoms are more severe and rapidly progressive than seen in Hurler syndrome.
We describe a case of I-cell disease in a 6-year-old girl who has been effectively treated by bone marrow transplantation.