[MIM 256 600, 610 027, 600 329]

(Seitelberger disease, Neurodegeneration associated with phospholipase A2)

Very rare. Autosomal recessive transmission of a mutation in the PLA2G6 gene (22q12-q13). This gene codes for the group VI (Ca independent) phospholipase A2   that plays an important role in the homeostasis of the cell membrane and the dysfunction of which leads to accumulation of intracellular iron.

Clinical presentation:

-        regression of acquired skills that begins between 6 months and 3 years of age; death usually before adolescence

-        hypotonia of the trunk, progressing towards spastic tetraparesis  with contractures

-        pendular nystagmus, uncoordinated eye movements, optic atrophy

-        progressive dementia

Histological image: spheroid bodies at the axonal level

Anesthetic implications:

mental retardation, spasticity

References :

-        Sinskey JL, Holzman RS.
Perioperative considerations in infantile neuroaxonal dystrophy.
Pediatr Anesth 2017; 27: 322-4.

Updated: June 2017