I-CELL DISEASE - A CASE-REPORT AND REVIEW OF THE LITERATURE

A four-month-old female infant having developmental delay, coarse faci al features and dysostosis multiplex is reported with a special emphas is on the differential diagnosis among I-cell disease (ICD). Hurler sy ndrome and GM1 gangliosidosis. The lysosomal enzyme studies in culture d skin fibroblasts and serum sample of the patient certified the diagn osis of ICD. Foamy cell infiltration of some organs, including the lun gs, and microgyria formation were also noted. Genetic counselling was provided and prenatal diagnosis was offered to the couple to detect IC D in the next pregnancy.