Osmotic demyelination syndrome as a consequence of treating hyperammonemia in a patient with ornithine transcarbamylase deficiency

J Child Neurol. 2009 Jul;24(7):884-6. doi: 10.1177/0883073808331349. Epub 2009 Feb 18.


A 7-year-old female patient with a new diagnosis of ornithine transcarbamylase deficiency was treated for hyperammonemia with a standard protocol. Several days later, she developed ataxia, dysmetria, and dysarthria. Magnetic resonance imaging of the brain demonstrated pontine and extrapontine white matter changes consistent with osmotic demyelination. Classically described as a consequence of hyponatremia treatment, osmotic demyelination syndrome has rarely been associated with other entities. This case suggests a potentially serious complication of the standard therapy for hyperammonemia in patients with ornithine transcarbamylase deficiency.

Publication types

  • Case Reports

MeSH terms

  • Brain / pathology
  • Child
  • Demyelinating Diseases / drug therapy
  • Demyelinating Diseases / etiology*
  • Demyelinating Diseases / pathology
  • Female
  • Humans
  • Hyperammonemia / drug therapy*
  • Hyperammonemia / etiology
  • Magnetic Resonance Imaging
  • Ornithine Carbamoyltransferase Deficiency Disease / drug therapy*
  • Steroids / therapeutic use
  • Syndrome
  • Treatment Outcome


  • Steroids