[RENDU-OSLER DISEASE: A RARE CAUSE OF AMMONIA ENCEPHALOPATHY].

Area of Science:

• Medical Genetics
• Hepatology
• Vascular Medicine

Background:

• Hereditary Hemorrhagic Telangiectasia (HHT), also known as Rendu-Osler disease, is an autosomal dominant disorder.
• It is characterized by the formation of arteriovenous malformations (AVMs) in various organs, including the liver.
• Liver involvement in HHT occurs in an estimated 8-31% of cases.

Observation:

• Clinical manifestations of liver involvement in HHT include ascites, edema, abdominal pain, and dyspnea.
• Rarely, hepatic encephalopathy and gastrointestinal bleeding due to portal hypertension can occur.
• This case report focuses on a patient presenting with ammonia encephalopathy as a key sign of liver damage.

Findings:

• The patient exhibited iconographic anomalies on ultrasonography and magnetic resonance imaging (MRI) of the liver.
• These imaging findings were crucial in identifying and characterizing the liver damage associated with HHT.
• Ammonia encephalopathy served as a critical clinical indicator of the severity of hepatic dysfunction.

Implications:

• This case underscores the importance of considering HHT in patients presenting with unexplained liver dysfunction and neurological symptoms.
• Diagnostic imaging plays a vital role in the early detection and management of hepatic AVMs in HHT patients.
• Recognizing these specific clinical and radiological signs can improve patient outcomes and guide therapeutic strategies for HHT-related liver disease.