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...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
JCDR Research and Publications Private Limited
2021-05-01
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| Series: | Journal of Clinical and Diagnostic Research |
| Subjects: | |
| Online Access: | https://www.jcdr.net/articles/PDF/14848/48101_CE[Ra1]_F[SK]_PF1(MG_SL)_PFA(MG_KM)_PN(KM).pdf |
| Summary: | 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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| ISSN: | 2249-782X 0973-709X |