Objective:

To report an uncommon case for Ornithine Transcarbamylase Deficiency in a 72 year old Patient

Background:

Hyperammonemia is a known cause of altered mental status in both pediatric and adult populations. In adults, hepatic failure and toxic ingestion are common causes of hyperammonemia, while urea cycle disorders are most common pediatric population. We present a case of Ornithine Transcarbamylase Deficiency in a 72-year-old male presenting with altered mental status which has not been reported in the literature in this age group before

Design/Methods:

Case Report

Results:

We present a 72-year-old man who was initially noted to be slightly confused by family 24 hours prior to presentation. His confusion gradually worsened so he was brought to the emergency room. On initial assessment patient was agitated, not following commands and had incomprehensible speech. Neurologic work up including CT Head, CT Angiogram of Head and Neck and lumbar puncture were unremarkable. MRI brain showed symmetric T2 signal abnormalities in bilateral insular cortices and thalami, suggestive of hyperammonemia. Serum ammonia was 443 µ/dL. Patient was started on Continuous Renal Replacement Therapy and within 24 hours ammonia levels were reduced to 84 µ/dL. Overnight patient had clinical worsening with loss of brainstem reflexes. Repeat CT Head showed global cerebral edema, loss of gray-white differentiation, pseudo-subarachnoid sign and tonsillar herniation. Patient passed away 3 days after admission. Urine Organic Acid studies supported a diagnosis of Ornithine Transcarbamylase Deficiency, genetic studies were unable to be obtained. Patient’s hepatic function, urine toxicology and INR were unremarkable

Conclusions: