A Rare Case of Diffuse Intestinal Ganglioneuromatosis in a Child Presenting with Intussusception
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...
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doaj-ff5abe56dfe24cb6b8ea57087b05a89d2021-06-16T08:11:56ZengJCDR Research and Publications Private LimitedJournal of Clinical and Diagnostic Research2249-782X0973-709X2021-05-01155ED01ED0310.7860/JCDR/2021/48101.14848A Rare Case of Diffuse Intestinal Ganglioneuromatosis in a Child Presenting with IntussusceptionAnuradha Sekaran0Amruta Patil1Mahesh Shetty2Guduru Venkat Rao3Duvvur Nageshwar Reddy4Director and Chief Pathologist, Department of Pathology, AIG Hospitals, Hyderabad, Telangana, India.Pathologist, Department of Pathology, AIG Hospitals, Hyderabad, Telangana, India.Surgical Gastroenterologist, Department of Surgery, AIG Hospitals, Hyderabad, Telangana, India.Chief of Surgical Gastroenterology and Minimally Invasive Surgery, Department of Surgical Gastroent Erology, AIG Hospitals, Hyderabad, Telangana, India.Chairman and Chief of Gastroenterology, Department of Medical Gastroent Erology, AIG Hospitals, Hyderabad, Telangana, India.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.https://www.jcdr.net/articles/PDF/14848/48101_CE[Ra1]_F[SK]_PF1(MG_SL)_PFA(MG_KM)_PN(KM).pdfganglioneuromapaediatricssyndrome |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Anuradha Sekaran Amruta Patil Mahesh Shetty Guduru Venkat Rao Duvvur Nageshwar Reddy |
spellingShingle |
Anuradha Sekaran Amruta Patil Mahesh Shetty Guduru Venkat Rao Duvvur Nageshwar Reddy A Rare Case of Diffuse Intestinal Ganglioneuromatosis in a Child Presenting with Intussusception Journal of Clinical and Diagnostic Research ganglioneuroma paediatrics syndrome |
author_facet |
Anuradha Sekaran Amruta Patil Mahesh Shetty Guduru Venkat Rao Duvvur Nageshwar Reddy |
author_sort |
Anuradha Sekaran |
title |
A Rare Case of Diffuse Intestinal Ganglioneuromatosis in a Child Presenting with Intussusception |
title_short |
A Rare Case of Diffuse Intestinal Ganglioneuromatosis in a Child Presenting with Intussusception |
title_full |
A Rare Case of Diffuse Intestinal Ganglioneuromatosis in a Child Presenting with Intussusception |
title_fullStr |
A Rare Case of Diffuse Intestinal Ganglioneuromatosis in a Child Presenting with Intussusception |
title_full_unstemmed |
A Rare Case of Diffuse Intestinal Ganglioneuromatosis in a Child Presenting with Intussusception |
title_sort |
rare case of diffuse intestinal ganglioneuromatosis in a child presenting with intussusception |
publisher |
JCDR Research and Publications Private Limited |
series |
Journal of Clinical and Diagnostic Research |
issn |
2249-782X 0973-709X |
publishDate |
2021-05-01 |
description |
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. |
topic |
ganglioneuroma paediatrics syndrome |
url |
https://www.jcdr.net/articles/PDF/14848/48101_CE[Ra1]_F[SK]_PF1(MG_SL)_PFA(MG_KM)_PN(KM).pdf |
work_keys_str_mv |
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