[Hepatic encephalopathy from cholangitis in a young patient with ornithine transcarbamylase mutation]

Hepatic encephalopathy (HE) is a serious neurological complication of chronic liver failure characterized by alterations of consciousness ranging from mild confusion to coma; and although it is classically associated with hyperammonemia secondary to hepatic dysfunction, in some patients genetic or metabolic susceptibilities may coexist.

This report presents a 37-year-old male patient who was admitted to the emergency department due to altered mental status, severe hyperbilirubinemia, acute renal dysfunction, and signs of decompensated liver failure; therefore, the diagnosis of hepatic encephalopathy triggered by cholangitis was established. During hospitalization, the patient exhibited disproportionate hyperammonemia relative to the degree of hepatic dysfunction, and genetic analysis revealed a heterozygous variant in the ornithine transcarbamylase (OTC) gene and multidisciplinary treatment was initiated to reduce ammonia.

This case allows us to reflect on the diagnostic and therapeutic challenges of HE, as well as the importance of a comprehensive approach in patients with advanced liver disease. Furthermore, it demonstrates how genetic defects of the urea cycle, such as partial OTC deficiency, can aggravate hyperammonemia and encephalopathy.