[MIM 245 200, 611 722]

Prevalence: 1/150,000. Autosomal recessive transmission of the GALC gene (14q.31) coding for galactosyl-ceramidase (lysosomial enzyme). Some cases are due to mutation of the PSAP gene( 10q21-q22) coding for saposine A, a cofactor necessary for a normal activity of galactosyl-ceramidase. Leukodystrophy caused by  deficiency in galactosyl-ceramidase.

Two clinical forms:

-        classic infantile form (85-90 %): onset before 6 months of age, divided in 3 stages

*        first stage: hyperirritability, stiffness, deficient control of head posturing, feeding difficulties, intermittently flexed thumbs, hyperthermia episodes and failure to thrive

*         second stage: hypertonic episodes with opisthotonos and myoclonic crises, developmental regression, difficult clenching and vision disorders

*        third stage: hypotonia, blidness and deafness

-        late form: after 1 year, gait disorders, spastic paraplegia.

Anesthetic implications:

risk of pulmonary aspiration, profuse secretions, epilepsy.

References:

-        Bascou NA, Marcos MC, Beltran Quintero ML, Roosen-Marcos MC, Cladis FP, Poe MD, Escolar ML.
General anesthesia safety in progressive leukodystrophies: a retrospective study of patients with Krabbe disease and metachromatic leukodystrophy.
Pediatr Anesth 2019; 29: 1053-9

Updated: November 2019