Chemical studies on postmortem tissues from an infant with a sphingomyelin storage disorder

Abstract

Investigations of formalin-stored tissues from a female child 3 weeks old showed that the concentrations of sphingomyelin, cholesterol and other lipids were increased in spleen and other tissues. Although the disorder could not be confirmed enzymatically, the findings are most consistent with the patient having a sphingomyelin storage disorder. Tissue lipid data for a series of subjects without storage disorders are presented and may provide useful information for interpretation of results from autopsy samples.