# Hyperammonemia-Associated Stroke-Like Episodes and Acute Liver Failure in an 11-Month-Old Infant With Probable Ornithine Transcarbamylase Deficiency: Diagnostic and Therapeutic Challenges in a Resource-Limited Setting

## TL;DR

An 11-month-old girl with a rare metabolic disorder showed severe neurological and liver symptoms, and was managed with basic supportive care in a resource-limited setting.

## Contribution

This case highlights the challenges of diagnosing and managing ornithine transcarbamylase deficiency in females without access to advanced therapies.

## Key findings

- The patient exhibited stroke-like neurological changes and acute liver failure with hyperammonemia.
- Strict protein restriction and high-calorie hydration improved her condition despite limited resources.
- Early suspicion and supportive care were critical in preventing fatal outcomes.

## Abstract

Hyperammonemia outside the neonatal period is a time-critical emergency and may reveal a late-onset urea cycle disorder, including ornithine transcarbamylase deficiency (OTCD), which can be particularly challenging to recognize in females. We report the case of an 11-month-old female who presented with seizures and transient focal neurological deficits in the context of recurrent vomiting and acute hepatic dysfunction, with respiratory alkalosis and marked hyperammonemia accompanied by biochemical features compatible with a proximal urea cycle defect. Brain imaging showed stroke-like changes that were not consistent with a vascular territory, supporting a metabolic mechanism rather than primary ischemia. In a resource-limited setting where standard nitrogen-scavenging therapy and extracorporeal ammonia removal were not accessible, prompt catabolic control using strict protein restriction and high-calorie hydration was associated with biochemical recovery and clinical improvement, although mild residual weakness remained. This report highlights that early suspicion and immediate supportive management can be lifesaving when advanced diagnostics and targeted therapies are unavailable.