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A case of I-cell disease
Y Yuasa1, M Yoshinaga, T Kitahara
1Department of Pediatrics, Faculty of Medicine, Kagoshima University, Japan.
Acta Paediatrica Japonica : Overseas Edition
|December 1, 1990
Summary
This case report details I-cell disease, where a 12-month-old patient died from pneumonia. Autopsy revealed characteristic foamy changes in multiple organs, including novel alveolar epithelium changes in the lungs, highlighting their potential role in disease progression.
Area of Science:
- Cell Biology
- Pathology
- Genetics
Background:
- I-cell disease is a rare lysosomal storage disorder.
- It is caused by a deficiency in the enzyme N-acetylglucosamine-1-phosphotransferase, leading to impaired lysosomal enzyme targeting.
- Major causes of mortality include congestive heart failure and recurrent respiratory infections.
Observation:
- A case of I-cell disease in a 12-month-old infant is presented.
- The patient experienced recurrent pneumonia and ultimately died from the condition.
- Autopsy revealed characteristic foamy cytoplasmic changes in various organs, including the heart, kidneys, liver, spleen, and brain.
Findings:
- Histological examination of lung tissue demonstrated foamy changes not only in interstitial cells but also in the alveolar epithelium.
- This observation is novel, as previous reports have not detailed alveolar epithelium involvement.
- Acid mucopolysaccharides were identified in the affected tissues via colloidal iron staining.
Implications:
- The observed alveolar epithelium changes in the lungs may be pathologically significant.
- Further investigation into lung histology in I-cell disease is warranted.
- Understanding these changes could provide insights into the recurrent respiratory infections that contribute to mortality in I-cell disease patients.