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. 2023 Feb 7;85(2):219-224.
doi: 10.1097/MS9.0000000000000195. eCollection 2023 Feb.

Isolated diffuse intestinal ganglioneuromatosis presented as a redundant sigmoid colon: a case report

Fadi Al Samaan  1 , Maryam Alhimyar  2   3 , Mohammad Alhalbouni  2 , Alaa Aldirani  2 , Lina Assad  1
Affiliations

Isolated diffuse intestinal ganglioneuromatosis presented as a redundant sigmoid colon: a case report

Fadi Al Samaan et al. Ann Med Surg (Lond). .

Abstract

Diffuse intestinal ganglioneuromtosis is a benign tumor of the enteric nervous system, that almost always occurs in children with systemic syndromes. Whereas isolated cases in adults are exceedingly rare.

Case presentation: A 38-year-old man presented with refractory chronic constipation. An abdominal computed tomography scan revealed a redundant sigmoid colon, then he underwent a sigmoid colectomy. Histopathologic examination showed diffuse ganglioneuromatosis. However, the patient was in good health 18 months after surgery.

Clinical discussion: Intestinal ganglioneuromas commonly occur in children with systemic syndromes such as multiple endocrine neoplasia type 2B and neurofibromatosis type 1. The most frequent symptoms are abdominal discomfort, constipation, ileus, weight loss, appendicitis, and obstruction in more severe cases. surgical resection is the standard management in diffuse ganglioneuromatosis.

Conclusion: Although diffuse ganglioneuromatosis is uncommon, it should be considered in patients with refractory constipation.

Keywords: adults; constipation; dolichocolon; ganglioneuromaintestinal; ganglioneuromatosis.

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Conflict of interest statement

The authors declare that they have no financial conflict of interest with regard to the content of this report.

Figures

Figure 1
Figure 1
Computed tomography A, B, C, and D reveal the sigmoid colon loop rising over the line between iliac crests. White arrows showed the elongation of the sigmoid colon.
Figure 2
Figure 2
(A) Exuberant plexiform myenteric hyperplasia (hematoxylin and eosin) (×100). (B) Prominent ganglion cells admixed with spindle cells (hematoxylin and eosin) (×400). (C) Mucosal proliferation of ganglion and spindle cells expanding the lamina propria (hematoxylin and eosin) (×200). (D) Mucosal proliferation of ganglion and spindle cells expanding the lamina propria (hematoxylin and eosin) (×400). Starred ones are immunohistochemical staining: (E) Synaptophysin immunostain highlights the ganglion cells (×400). (F) S-100 immunolabeling shows extensive myenteric plexus hyperplasia (×100). (G) Neuron-specific enolase immunostaining highlights ganglion cells even when they are scarce (×400).
Figure 3
Figure 3
Second colonoscopy: (A and B) Revealed no lesions. (C) Previous anastomosis. (D–F) Polyps in the cecum. Biopsies from cecum: (G) Mucosal ganglioneuromatosis (hematoxylin and eosin, ×200). (H) Mature ganglion cells admixed with bland spindle cells (hematoxylin and eosin, ×400). (I) Rectal biopsies showing mucosal ganglioneuromatosis (hematoxylin and eosin, ×200). (J) Cluster of ganglioneuromatous proliferation (hematoxylin and eosin, ×400).
See this image and copyright information in PMC

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