Case of the Week
Section Editors: Matylda Machnowska1 and Anvita Pauranik2
1University of Toronto, Toronto, Ontario, Canada
2BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada
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August 19, 2013
Acute Hyperammonemic Encephalopathy
- Hyperammonemia is a well-recognized cause of encephalopathy and coma.
- Hyperammonemia can result from hereditary defects in the urea cycle enzyme function or can be seen with fulminant hepatic failure, organic acidemias, carinitine deficiency, or adverse drug effects from Valproate, carbamazepine, and high-dose 5-fluorouracil.
- Key Diagnostic Features: Symmetric involvement of the cingulate gyrus and insular cortex bilaterally. Involvement of the deep gray nuclei is more variable. Sparing of the perirolandic and occipital regions has also been reported to be a characteristic feature of acute hyperammonemic encephalopathy.
- DDx: Hypoxic-ischemic encephalopathy, mitochondrial disorders, CJD, limbic encephalitis
- Rx: Hemodialysis, lactulose
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