Successful management of refractory intracranial hypertension from acute hyperammonemic encephalopathy in a woman with ornithine transcarbamylase deficiency.
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.
Wendell
Linda C
LC
Department of Neurology, Hospital of the University of Pennsylvania, Philadelphia, PA 19104, USA. linda.wendell@uphs.upenn.edu
Khan
Amir
A
Raser
Jonathan
J
Lang
Shih-Shan
SS
Malhotra
Neil
N
Kofke
W Andrew
WA
LeRoux
Peter
P
Park
Soojin
S
Levine
Joshua M
JM
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
D009584:Nitrogen