Extrapontine myelinolysis resulting in transient cortical blindness

Pediatr Neurol. 2010 Feb;42(2):154-6. doi: 10.1016/j.pediatrneurol.2009.08.012.

Abstract

Central pontine myelinolysis and extrapontine myelinolysis are characterized by symmetric demyelination subsequent to rapid shifts in serum osmolality. Described here is a novel case of transient cortical blindness in association with imaging features of extrapontine myelinolysis, which occurred in a child with carbamoyl phosphate synthetase deficiency after rapid correction of hyperammonemia. Serum sodium levels were within normal limits at presentation and throughout the period of ammonia correction. A potential pathogenic mechanism of osmotic demyelination in the setting of acute treatment for hyperammonemia in a patient with a urea cycle abnormality includes disruption of the blood-brain barrier and re-equilibration of organic osmolytes, particularly glutamine.

Publication types

  • Case Reports

MeSH terms

  • Blindness, Cortical / diagnosis*
  • Blindness, Cortical / etiology*
  • Child, Preschool
  • Humans
  • Male
  • Myelinolysis, Central Pontine / complications*
  • Myelinolysis, Central Pontine / diagnosis*