Hyperammonemic coma in a post-partum patient with undiagnosed urea cycle defect

Sananta Kumar Dash, Munish Chauhan, Vishakh Varma, Rakesh Sharma, Sudha Kansal, Rajesh ChawlaIndian Journal of Critical Care Medicine 2013 17(2):107-110Urea cycle disorders (UCD) are common during neonatal period, and it is rarely reported in adults. We are reporting a patient presenting with post-partum neuropsychiatric symptoms rapidly progressing to coma. Markedly raised serum ammonia level on presentation with an initial normal magnetic resonance imaging (MRI) of brain and normal liver function tests led to the suspicion of UCD, which was confirmed on the basis of urine orotic acid and elevated serum amino acid levels. We had to resort to hemodialysis to correct the hyperammonemic coma, which was unresponsive to conventional anti-ammonia measures. She exhibited remarkable improvement with a progressive decline in serum ammonia with repeated hemodialysis and made a full recovery. Timely diagnosis and early institution of hemodialysis in the setting of a poor neurological status maybe considered a suitable treatment option.

Source: Indian Journal of Critical Care Medicine - July 9, 2013 Category: Intensive Care Authors: Sananta Kumar DashMunish ChauhanVishakh VarmaRakesh SharmaSudha KansalRajesh Chawla Source Type: research