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Alexander, disease (1)
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Prevalence: < 1.106. De novo mutations but familial cases of autosomal dominant transmission exist producing a gain of function 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, dysphagia, ataxia and convulsions, scoliosis, dysautonomia (thermal regulation disorders, bradycardia/tachycardia); 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.
Experimental treatment: intrathecal injections of a nucleotide that reduces GFAP protein production.
Anesthetic implications:
Risk of airway obstruction, abundant oral secretions, gastroesophageal reflux, convulsions, risk of hypo- or hyperthermia, instability of the cardiac rhythm. The use of EEG depth monitoring enables propofol doses to be adapted to the patient's needs: in one case, a dose reduction of > 50 % was observed.
References:
- Berger JA, Simpao AF, Dubow SR, et al.
A retrospective observational cohort study of the anesthetic management and outcomes of pediatric patients with Alexander disease undergoing lumbar puncture or magnetic resonance imaging.
Pediatr Anesth. 2024; 34: 810-7.
- Zhang M, Mather RV, Chung AR, Leung CFA, Ramamurthi RJ, Purdon PL.
Electroencephalogram-guided general anesthesia in a pediatric patient with Alexander’s disease: a case report.
A & A Practice 2025 ; 19: e01910, DOI: 10.1213/XAA.0000000000001910
Updated: February 2025