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I-cell disease. A case report and review of the literature
N Güngör1, T Coşkun, Z Akçören
1Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara.
Insights
This report details a case of I-cell disease (ICD) in an infant, highlighting its distinction from similar lysosomal storage disorders. Diagnosis was confirmed via enzyme studies, with genetic counseling and prenatal diagnosis offered.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- I-cell disease (ICD) is a rare lysosomal storage disorder.
- Infants with ICD present with developmental delay, coarse facial features, and dysostosis multiplex.
- Differential diagnosis is crucial, often including Hurler syndrome and GM1 gangliosidosis.
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.