[MIM 203 450]

Prevalence: <1.106. De novo mutations but familial cases of autosomal dominant inheritance producing a gain of function gain of the gene expressing GFAP (Glial Fibrillary Acid Protein) (17q21.31). GFAP is a protein of the astrocytic cytoskeleton. Leukodystrophy characterized by progressive demyelination and the presence of Rosenthal fibers (eosinophilic deposits). 

There are two major clinical forms:

-         type I: the most frequent; onset betwen 1 and 2 years of age: progressive megalencephaly (sometimes hydrocephaly), psychomotor delay or regression, epilepsy, pyramidal signs, ataxia and convulsions; severe prognosis; death usually occur during adolescence

-         type II: onset early in adolescence or in the young adult; : gradual onset of spastic paraplegia with bulbar signs (dysarthria, dyphagia, ataxia); cognitive involvement can be mild or absent.

Anesthetic implications: 

Risk of airway obstruction, abundant oral secretions, gastroesophageal reflux.

References:

Updated: February 2019