Successful management of refractory intracranial hypertension from acute hyperammonemic encephalopathy in a woman with ornithine transcarbamylase deficiency

Linda C. Wendell, Amir Khan, Jonathan Raser, Shih Shan Lang, Neil Malhotra, W. Andrew Kofke, Peter Leroux, Soojin Park, Joshua M. Levine

Research output: Contribution to journalArticlepeer-review

12 Scopus citations


Background: Ornithine transcarbamylase deficiency (OTCD) is the most common of the urea cycle disorders and results in an accumulation of ammonia and its metabolites. Excess ammonia in the brain is metabolized to glutamine, which increases intracellular osmolarity and contributes to cytotoxic edema. Methods: We report a case of a woman heterozygous for OTCD who developed acute hyperammonemic encephalopathy and increased intracranial pressure (ICP). Results: Despite hemodialysis, protein restriction, and administration of pharmacologic nitrogen scavengers, she developed progressive cerebral edema and increased ICP that was refractory to maximal medical management. She underwent a bifrontal decompressive craniectomy resulting in resolution of her intracranial hypertension. Conclusion: Aggressive multimodality management of the patient coupled with bifrontal decompressive hemicraniectomy was a life-saving measure, offering the patient a reasonable outcome. At 6 month follow-up she had moderate disability on the Glasgow Outcome Score associated with cognitive difficulties.

Original languageEnglish (US)
Pages (from-to)113-117
Number of pages5
JournalNeurocritical Care
Issue number1
StatePublished - Aug 2010

All Science Journal Classification (ASJC) codes

  • Clinical Neurology
  • Critical Care and Intensive Care Medicine

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