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Case Reports
. 2019 Jul;98(27):e16305.
doi: 10.1097/MD.0000000000016305.

Diffuse ileal ganglioneuromatosis mimicking a gastrointestinal stromal tumor: A case report

Xiaonan Yin  1 , Xin Chen  1 , Renjia Shu  2 , Chaoyong Shen  1 , Yuan Yin  1 , Zhaolun Cai  1 , Jian Wang  1 , Zhou Zhao  1 , Huijiao Chen  3 , Bo Zhang  1
Affiliations
Case Reports

Diffuse ileal ganglioneuromatosis mimicking a gastrointestinal stromal tumor: A case report

Xiaonan Yin et al. Medicine (Baltimore). 2019 Jul.

Abstract

Rationale: Intestinal ganglioneuromatosis (IGNM) is a rare disease, defined by an abnormal proliferation of ganglion cells, nerve fibers and Schwann cells in the enteric nerve system.

Patient concerns: A 54-year-old woman presented with a one-year history of recurrent episodes of hypogastric pain, with vomiting, nausea, melena, and weight loss of 10 kg in recent 5 months.

Diagnoses: The patient was diagnosed as a diffuse IGNM by pathological examination.

Interventions: A complete excision of the tumor was performed.

Outcomes: On follow-up after 26 months, the patient was asymptomatic without complications.

Lessons: This report showed a rare case of diffuse IGNM not associated with NF1 or MEN2b. Preoperative radiological examination suggested an intestinal GIST, yet the final diagnosis of diffuse IGNM was made according to the pathological examination of the resected specimen. Although the prevalence of ganglioneuromatosis is low, this condition should be considered in the differential diagnosis of intestinal mass in adults.

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Conflict of interest statement

The authors have no conflicts of interest to disclose.

Figures

Figure 1
Figure 1
Abdominal enhanced computed tomography showed a soft tissue mass shadow with mild delayed enhancement extended into the distal ileal lumen (A, B, C, D). The narrow indicates the tumor.
Figure 2
Figure 2
A. Proliferation of spindle cells mixed with mature ganglion cells (HE, ×200); B. Intense and diffuse expression with immunohistochemical stain S-100 protein (×200); C. Strong immunoreactivity for synaptophysin (×200); D. Strong positivity with immunohistochemical stain NeuN protein (×200).
Figure 3
Figure 3
Immunohistochemical analysis demonstrated that the tumor cells were negative for CD117 (×200), and DOG-1 (×200).
See this image and copyright information in PMC

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