• Linda C Wendell, Amir Khan, Jonathan Raser, Shih-Shan Lang, Neil Malhotra, W Andrew Kofke, Peter LeRoux, Soojin Park, and Joshua M Levine.
• Department of Neurology, Hospital of the University of Pennsylvania, Philadelphia, PA 19104, USA. linda.wendell@uphs.upenn.edu
• Neurocrit Care. 2010 Aug 1;13(1):113-7.

BackgroundOrnithine 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.MethodsWe report a case of a woman heterozygous for OTCD who developed acute hyperammonemic encephalopathy and increased intracranial pressure (ICP).ResultsDespite 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.ConclusionAggressive 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.

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