A Rare Case of Diffuse Intestinal Ganglioneuromatosis in a Child Presenting with Intussusception
Published: May 1, 2021 | DOI: https://doi.org/10.7860/JCDR/2021/48101.14848
Anuradha Sekaran, Amruta Patil, Mahesh Shetty, Guduru Venkat Rao, Duvvur Nageshwar Reddy
1. Director and Chief Pathologist, Department of Pathology, AIG Hospitals, Hyderabad, Telangana, India.
2. Pathologist, Department of Pathology, AIG Hospitals, Hyderabad, Telangana, India.
3. Surgical Gastroenterologist, Department of Surgery, AIG Hospitals, Hyderabad, Telangana, India.
4. Chief of Surgical Gastroenterology and Minimally Invasive Surgery, Department of Surgical Gastroenterology, AIG Hospitals, Hyderabad, Telangana, India.
5. Chairman and Chief of Gastroenterology, Department of Medical Gastroenterology, AIG Hospitals, Hyderabad, Telangana, India.
Correspondence
Anuradha Sekaran,
Mindspace Road, Gachibowli, Hyderabad, Telangana, India.
E-mail: dr.sanuradha@aighospitals.com
Ganglioneuromas are benign neurogenic neoplasms commonly seen in children which are originating from neural crest cells of sympathetic ganglia or adrenal medulla. Rarely, they may arise from the visceral organs like intestine. Diffuse intestinal ganglioneuromatosis is a rare disease, caused due to abnormal proliferation of ganglion cells, nerve fibres and schwann cells in the wall of intestine. Author hereby present a case of diffuse intestinal ganglioneuromatosis in an 18-month-old male child who presented with symptoms of small bowel obstruction. Resected segment of ileocecal junction revealed ulcero-nodular areas which on microscopy showed diffuse hyperplasia of nerve bundles and ganglion cells with immunohistochemistry confirmation. Intestinal ganglioneuromatosis is a rare condition having syndromic association with MEN-2B, Neurofibromatosis-1 and Cowden syndrome. As this disease has a low clinical suspicion, very nonspecific symptoms and radiological findings, histopathological examination becomes mainstay in diagnosis. Further workup is essential to rule out presence of associated syndromes. Surgical excision is the ultimate treatment with screening for genetic abnormalities.
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