Ornithine Transcarbamylase Deficiency Presenting as Acute Encephalopathy After Strabismus Surgery

Area of Science:

• Neurology
• Metabolic Disorders
• Genetics

Background:

• Acute encephalopathy presents a diagnostic challenge, often requiring a broad differential diagnosis.
• Ornithine transcarbamylase (OTC) deficiency is a rare genetic urea cycle disorder causing hyperammonemia.

Observation:

• A 50-year-old male presented with acute encephalopathy, including slurred speech and altered mental status, following strabismus surgery.
• The patient exhibited progressively elevated ammonia levels, indicating severe hyperammonemia.

Findings:

• Metabolic studies suggested hyperammonemia secondary to ornithine transcarbamylase (OTC) deficiency.
• OTC gene sequencing confirmed the diagnosis, revealing a deficiency triggered by pre-operative fasting.

Implications:

• This case underscores the importance of considering rare metabolic disorders like OTC deficiency in patients with unexplained encephalopathy, even after minor procedures.
• Prompt diagnosis and management of OTC deficiency are crucial to prevent severe neurological complications.
• Maintaining a broad differential diagnosis and continuous reassessment are vital for managing complex clinical presentations.