A Case of I‐Cell Disease

Abstract

A case of I‐cell disease is reported. The patient suffered from several episodes of pneumonia, and died of pneumonia at 12 months of age. Tissue specimens obtained at autopsy were stained with colloidal iron to demonstrate acid mucopolysaccharides. Characteristic foamy changes were observed in organs such as the heart, kidneys, liver, spleen and brain. An interesting finding in this case was that not only the interstitial cells but the alveolar epithelium in the lung showed the same foamy changes. The major causes of death of patients with I‐cell disease are congestive heart failure and recurrent respiratory infections. However, there have been few reports on the histological changes in the lungs, and none have described the changes in the alveolar epithelium. Further cases must be investigated to examine the pathological relation between the histological changes in the lungs and the cause of death, because recurrent respiratory infections are the major contributor to death in patients with I‐cell disease.

Improved morbidity with the use of nasal continuous positive airway pressure in I-cell disease

“…The major causes of death are congestive heart failure and recurrent respiratory tract infections. [5][6][7][8][9] Peters and colleagues 10 reported mucopolysaccharide deposit in the airways of patient with I-cell disease. Cells filled with acid mucopolysaccharide and mucolipids grossly thicken the epiglottis, larynx, trachea, and the base of the tongue.…”

“…Cardiac and respiratory problems (recurrent upper respiratory infections, bronchopneumonia and pulmonary atelectasis) lead to early death, usually between the fifth and seventh year of life. [5][6][7][8][9] Following is a report of our experience with the use of NCPAP in a child with I-cell disease resulting in lessened morbidity and improved quality of life.…”