Niemann-Pick Disease Type C: Case Report with Ultastructural Findings¹

Abstract

A 14-year-old boy died after a long neurological illness characterized mainly by dementia and spasticity. Hepatosplenomegaly was not observed. The autopsy revealed ballooning of scattered nerve cells in the neuraxis and nests of large clear or eosonophilic cells in the spleen and lymph nodes. The sphingomyelin content in the spleen was six times that of a normal control. Electron microscopy of the formalin-fixed frontal cortex showed numerous intraneuronal lamellated bodies resembling the membranous cyto-plasmic and zebra bodies seen in other storage diseases. Myelin sheaths exhibited various forms of extracellular disintegration. In the spleen, some cells contained bundles of roughly concentrical lamellae (myelin figures) occurring either severally in the cytoplasm or comprised in large lysosome-like bodies of variable composition. Heterogeneity and lack of specificity of the inclusions are emphasized. The possible artifactual nature of the myelin sheath changes is considered. The lack of particulate deposition of the cholesterol moiety is commented upon. Some explanations for the tissue cholesterolosis of NIEMANN-PICK disease are mentioned.