Open AccessA Rare Case of Diffuse Intestinal Ganglioneuromatosis in a Child Presenting with Intussusception
Author(s) -
Anuradha Sekaran,
Amruta Patil,
Mahesh K. Shetty,
Guduru Venkat Rao,
Duvvur Nageshwar Reddy
Publication year - 2021
Publication title -
journal of clinical and diagnostic research
Language(s) - English
Resource type - Journals
eISSN - 2249-782X
pISSN - 0973-709X
DOI - 10.7860/jcdr/2021/48101.14848
Subject(s) - medicine , ganglioneuroma , pathology , neurofibromatosis , ganglion , hyperplasia , rare disease , anatomy , disease , neuroblastoma , biology , genetics , cell culture
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.