Abstract Details

Title Ornithine Transcarbamylase Deficiency in a 72-year-old Man Causing Hyperammonemia and Cerebral Edema

Topic General Neurology

Presentation(s) P3 - Poster Session 3 (5:30 PM-6:30 PM)

Poster/Presentation
Number 4-006

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

This case demonstrates a rare case of OTC deficiency in a 72-year-old man who presented with acute altered mental status which rapidly progressed to diffuse cerebral edema, herniation and death within 4 days of symptom onset. We recommend considering Ornithine Transcarbamylase Deficiency in all patients with hyperammonemia of unclear origin regardless of age.

Authors/Disclosures
Sukhraj Gill, MD PRESENTER	Dr. Gill has nothing to disclose.
Matthew Hart, MD	Dr. Hart has nothing to disclose.
Neil R. Holland, MBBS, FAAN (Geisinger)	Dr. Holland has nothing to disclose.

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