Merlin Deficiency

Neurofibromatosis has two types; medical students are taught to think of it whenever they see cafe au lait spots, literally 'coffee with milk' according to those crazy French people who, as Steve Martin says, 'have a different word for everything'.

A couple interesting things. We associate these with all sorts of syndromes in children, but it turns out that something like 1% of caucasians and up to 27% of african-americans have 1 to 2 spots (as found and presented well by a classmate). Like unequal pupils, most of the time this doesn't mean disease.

Still, neurofibromatosis sydnromes are associated; these people deal with a variety of tumor types that grow out of Schwann cells, normally responsible for covering peripheral nerves in myelin, a sort of insulation that speeds transmission and makes life possible. Depending on the type these can be on the skin or, commonly, in the eye or ear.

But the real reason to post is that the alternative name for the gene in type 2 is 'merlin'. As in, the wizard. So, it's correct to say that the little girl receiving chemo down the hall right now for a resistant optic glioma has a shortage of magic in her life; specifically, a shortage of tall, long-bearded wizardry.

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