Niemann-Pick disease (Crocker's type C): A histological study of the distribution and qualitative differences fo the storage process.

Abstract

A histochemical study is reported of regional differences of the lipid storage in a case of Niemann-Pick disease (NPD) type C. Besides tissues known to be affected (reticulo-endothelium, hepatocytes, nervous system), storage was demonstrated in adrenal cortical spongiocytes, sweat glands, renal glomerular and tubular cells, smooth muslce, excretory tubules of some salivary glands, ependyma and in choroid plexus. In most tissues were stored sphingomyelin, cholesterol and a small amount of a glycosphingolipid. In the endothelium of cerebral and spinal vessels the main stored lipid was a glycosphingolipid. The significance of these regional differences are discussed and their study is recommended as a useful counterpart to the biochemical investigation.

• Authors: M Elleder, A Jirásek, F Smíd
• Journal: Acta neuropathologica (Acta Neuropathol) Vol. 33 Issue 3 Pg. 191-200 (Dec 19 1975) ISSN: 0001-6322 [Print] Germany
• PMID: 1211110 (Publication Type: Journal Article)

Chemical References

• Glycosphingolipids
• Lipofuscin
• Sphingomyelins
• Cholesterol

Topics

• Adrenal Cortex (analysis)
• Brain (pathology)
• Brain Chemistry
• Child
• Child, Preschool
• Cholesterol (analysis)
• Choroid Plexus (analysis)
• Ependyma (analysis)
• Frontal Lobe (ultrastructure)
• Glycosphingolipids (analysis)
• Histocytochemistry
• Humans
• Lipofuscin (analysis)
• Male
• Niemann-Pick Diseases (metabolism, pathology)
• Peripheral Nerves (analysis)
• Sphingomyelins (analysis)
• Sweat Glands (analysis)