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I-cell disease: report of a case
1Department of Pediatrics, National Cheng Kung University Hospital, Tainan; Republic of China.
The Kaohsiung Journal of Medical Sciences
|May 1, 1996
Summary
I-cell disease (mucolipidosis type II) is a severe genetic disorder presenting at birth. Diagnosis in a 9-month-old infant confirmed characteristic inclusions and enzyme deficiencies.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- I-cell disease (mucolipidosis type II) is a rare lysosomal storage disorder.
- It shares features with Hurler syndrome but lacks mucopolysacchariduria.
- The condition is characterized by progressive symptoms and childhood mortality.
Observation:
- A 9-month-old male infant presented with clinical manifestations typical of I-cell disease.
- Cytoplasmic inclusions were identified in cultured skin fibroblasts.
- Ultrastructural analysis of skin revealed inclusions in fibroblasts and Schwann cells.
Findings:
- The patient exhibited characteristic coarse facial features, skeletal abnormalities, and severe psychomotor retardation.
- Lysosomal enzyme assays in serum and fibroblasts confirmed the diagnosis.
- Inclusions contained pleomorphic material, indicating defective lysosomal enzyme transport.
Implications:
- This case highlights the diagnostic criteria for I-cell disease.
- Understanding the cellular pathology is crucial for potential therapeutic strategies.
- Early diagnosis impacts patient management and genetic counseling.