Acronym for Retinal dystrophy, Optic nerve edema, Splenomegaly, Anhidrosis, and migraine Headache

Very rare: described in a few families. Dominant autosomal transmission of a mutation in the ALPK1 gene (4q25) coding for kinase.

Clinical signs:

-            retinal dystrophy with optic nerve edema: progressive loss of vision

-           splenomegaly

-         anhidrosis with a riskfor hyperthermia

-           migraines.

In addition, pancytopenia, frequent infections or moderate renal failure can be associated.

Anesthetic implications:

check total blood count and renal function

References : 

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Updated: November 2019