Monday, January 23, 2017

Niemann-Pick disease notes and mnemonic


Niemann-Pick disease (NPD; also called sphingomyelin-cholesterol lipidosis) is a group of autosomal recessive disorders associated with splenomegaly, variable neurologic deficits, and the storage of sphingomyelin.

Affected patients present with hepatosplenomegaly, feeding difficulties and loss of early motor skills in the first few months of life.

Additional manifestations include peripheral neuropathy, hypotonia, loss of reflexes, and interstitial lung disease. Macular cherry red spots are eventually present in all affected individuals.

Sphingomyelin is a component of cell membrane including the organellar membrane, so the enzyme deficiency blocks degradation of lipid, resulting in the accumulation of sphingomyelin within lysosomes in the macrophage-monocyte phagocyte lineage.

Histology shows lipid-laden macrophages in the marrow and "sea-blue histiocytes" on pathology. Numerous small vacuoles of relatively uniform size are created, giving the cytoplasm a foamy appearance.

Niemann-Pick cells contain numerous engorged secondary lysosomes, with myelin figures and zebra bodies. Gangliosides stored in nerve cells take the form of concentric membranes (membranous cytoplasmic bodies) or stacks of membranes (zebra bodies).

Mnemonic: No man picks cherries while singing about his foamy neurons.
No man has a zebra.

Niemann-Pick disease mnemonic

This was my old mnemonic illustration:
Niemann-Pick disease mnemonic
That's all!
More to come up soon :)

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