A case of the Abernethy malformation: An exceptionally rare clinical entity

Area of Science:

• Medicine
• Clinical Case Report
• Vascular Malformations

Background:

• Congenital extrahepatic portosystemic shunts (CEPS), or Abernethy malformations, are rare vascular anomalies.
• These shunts bypass the liver, directly connecting the portal vein to the systemic circulation.
• First described in 1793, Abernethy malformations remain an exceptional clinical entity.

Observation:

• A 30-year-old woman presented with symptoms of acute gastroenteritis, including diarrhea, nausea, and vomiting.
• During the diagnostic workup for gastroenteritis, an incidental finding revealed a portosystemic shunt.
• The patient was diagnosed with a congenital extrahepatic portosystemic shunt (Abernethy malformation).

Findings:

• The primary diagnosis was acute gastroenteritis, a common gastrointestinal illness.
• The incidental finding of an Abernethy malformation was unexpected given the patient's presentation.
• This case underscores the potential for rare congenital anomalies to be discovered alongside more common conditions.

Implications:

• This case highlights the diagnostic challenge of rare diseases presenting with common symptoms.
• Increased awareness of Abernethy malformations is crucial for timely diagnosis and management.
• Further research into the clinical presentation and management of CEPS is warranted.