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Related Experiment Videos

[Biliary obstruction in von Recklinghausen disease].

G Hernández Alvarez1, R Ayala Landa, G Hernández Adrian

  • 1Servicio de Gastroenterología y Cirugía del Hospital Carlos J. Bello de la Cruz Roja Venezolana, Caracas.

G.E.N
|January 1, 1991
PubMed
Summary

Enchondromatosis with hereditary visceral neurofibromas (EVR) is a rare condition causing tumors along nerves. These can obstruct the bile duct, mimicking pancreatitis and requiring surgical intervention.

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Area of Science:

  • Genetics
  • Gastroenterology
  • Pathology

Background:

  • Hereditary Visceral Neurofibromas (EVR) is an uncommon autosomal dominant disorder.
  • It characteristically presents with neurofibromas along spinal, cranial, and autonomic nerves.

Observation:

  • Neurofibromas can occur in the gastrointestinal tract, primarily the jejunum, stomach, and ileum.
  • Rarely, duodenal neurofibromas may ulcerate, causing bleeding and severe pain, mimicking acute pancreatitis.

Findings:

  • Neurofibromas originating from the minor omentum's nerve network can affect the extrahepatic biliary system.
  • Enlarged neurofibromas can lead to biliary obstruction, necessitating surgical treatment.

Implications:

  • Accurate diagnosis requires excluding other causes of biliary obstruction like gallstones or neoplasms.

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  • Diagnostic procedures include ultrasonography, ERCP, and CT scans.