Saturday, May 20, 2017

Tay-Sachs disease notes and mnemonic

Hello!

Tay-Sachs disease is an autosomal recessive, neurodegenerative disease.

It is caused by excess storage of the cell membrane glycolipid, Gm2 ganglioside, within cell lysosomes.

This Gm2 gangliosidosis is caused by a deficiency in beta-Hexosaminidase A (Hex A).
At two to six months of age, infants develop progressive weakness and loss of motor skills with hypotonia, hyperreflexia, and characteristic cherry red macula.

On histologic examination, neurons are ballooned with cytoplasmic vacuoles, each of which constitutes a markedly distended lysosome filled with gangliosides. With the electron microscope, several types of cytoplasmic inclusions can be visualized, the most prominent being whorled configurations with lysosomes composed of onion-skin layers of membranes.

No hepatosplenomegaly and hyperreflexia is highlighted in my mnemonic because it helps differentiate from Niemann-Pick disease - in which hepatosplenomegaly and areflexia is seen.

Mnemonic: Sachs has a sexy and skinny gang.

Tay-Sachs disease mnemonic 

That's all!

-IkaN

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