I-cell disease. A case report and review of the literature

Abstract

A four-month-old female infant having developmental delay, coarse facial features and dysostosis multiplex is reported with a special emphasis on the differential diagnosis among I-cell disease (ICD). Hurler syndrome and GM1 gangliosidosis. The lysosomal enzyme studies in cultured skin fibroblasts and serum sample of the patient certified the diagnosis of ICD. Foamy cell infiltration of some organs, including the lungs, and microgyria formation were also noted. Genetic counselling was provided and prenatal diagnosis was offered to the couple to detect ICD in the next pregnancy.