title: Successful management of refractory intracranial hypertension from acute hyperammonemic encephalopathy in a woman with ornithine transcarbamylase deficiency.
abstract: 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Neurology, Hospital of the University of Pennsylvania, Philadelphia, PA 19104, USA. linda.wendell@uphs.upenn.edu
authors.forename: Linda C
authors.initials: LC
authors.lastname: Wendell
authors.forename: Amir
authors.initials: A
authors.lastname: Khan
authors.forename: Jonathan
authors.initials: J
authors.lastname: Raser
authors.forename: Shih-Shan
authors.initials: SS
authors.lastname: Lang
authors.forename: Neil
authors.initials: N
authors.lastname: Malhotra
authors.forename: W Andrew
authors.initials: WA
authors.lastname: Kofke
authors.forename: Peter
authors.initials: P
authors.lastname: LeRoux
authors.forename: Soojin
authors.initials: S
authors.lastname: Park
authors.forename: Joshua M
authors.initials: JM
authors.lastname: Levine
mesh_terms: D000208:Acute Disease; D000328:Adult; D001927:Brain Diseases / Q000000981:diagnostic imaging / Q000209:etiology*; D001929:Brain Edema / Q000209:etiology; D056424:Decompressive Craniectomy / Q000379:methods*; D018753:Diet, Protein-Restricted; D005260:Female; D005500:Follow-Up Studies; D015920:Gas Scavengers; D006579:Heterozygote; D006801:Humans; D022124:Hyperammonemia / Q000150:complications* / Q000209:etiology*; D019586:Intracranial Hypertension / Q000000981:diagnostic imaging / Q000209:etiology* / Q000503:physiopathology / Q000628:therapy; D009584:Nitrogen / Q000037:antagonists & inhibitors; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000150:complications* / Q000235:genetics; D006435:Renal Dialysis; D019233:Retreatment; D014057:Tomography, X-Ray Computed
chemical_list: D009584:Nitrogen