{
  "abstract": "A 32-year-old woman with Alport syndrome and prior history of diffuse leiomyomatosis of the oesophagus and bronchial tree presented with severe constipation. MRI revealed extensive leiomyomatosis of the anorectum with obstructed defecation. Colonic manometry showed megacolon, and the patient underwent total colectomy. Surgical pathology confirmed leiomyomatosis and neuronal loss in the anorectum and reduced enteric ganglion cells in the colon. Prior literature suggests obstruction-induced enteric neuropathy as a potential mechanism for megacolon. This report shows that Alport syndrome with diffuse leiomyomatosis may have other gastrointestinal involvement including megacolon in affected patients presenting with constipation.",
  "authors": [
    {
      "affiliations": [
        "Gastroenterology and Hepatology, Mayo Clinic, Rochester, Minnesota, USA"
      ],
      "name": "John A Damianos"
    },
    {
      "affiliations": [
        "Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA"
      ],
      "name": "Kristina A Matkowskyj"
    },
    {
      "affiliations": [
        "Gastroenterology and Hepatology, Mayo Clinic, Rochester, Minnesota, USA"
      ],
      "name": "Michael Camilleri"
    }
  ],
  "title": "Chronic megacolon in a patient with Alport syndrome with diffuse leiomyomatosis",
  "uid": "42bfd39a-253f-5968-be85-6c1cecc8f30f"
}