Cavernous transformation of the portal vein associated to multiorgan developmental abnormalities

Area of Science:

• Vascular Malformations
• Hepatology
• Pediatric Congenital Anomalies

Background:

• Cavernous transformation of the portal vein (portal cavernoma) is a rare condition, often diagnosed late in adulthood.
• Clinical presentation typically involves upper gastrointestinal hemorrhage from varices, or less commonly, obstructive jaundice.
• In pediatric cases, portal cavernoma frequently coexists with prehepatic portal hypertension and congenital anomalies.

Observation:

• A 23-year-old female presented with massive hematemesis due to esophageal and small intestinal varices.
• The patient exhibited portal cavernoma with prehepatic portal hypertension.
• Unreported associated congenital malformations included right pulmonary hypoplasia, cardiac dextroposition, and right renal ectopia.

Findings:

• The combination of portal cavernoma and multiple, diverse congenital anomalies presented a unique clinical challenge.
• Pathogenesis of these multiple defects remains unclear, with a unifying intrauterine vascular insult hypothesis deemed unlikely.
• No specific functional abnormalities were identified in the affected organs despite thorough testing.

Implications:

• This case underscores the rare association of portal cavernoma with a spectrum of congenital malformations beyond typical findings.
• Management involved a combination of sclerotherapy and beta-blockers to control variceal bleeding.
• Further research may elucidate the underlying mechanisms connecting portal vein malformations with broader congenital anomalies.