Diffuse ganglioneuromatosis of cecum presenting as a rare cause of pediatric intestinal obstruction: a case report
Abstract Introduction Ganglioneuromas (GNs) are rare, benign tumors originating from undifferentiated neural crest cells, especially the autonomic nervous system (sympathetic). Ganglioneuromas, located in the gastrointestinal tract, are classified into three groups: single polypoid lesion, ganglione...
Saved in:
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
SpringerOpen
2025-08-01
|
| Series: | Egyptian Pediatric Association Gazette |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s43054-025-00385-4 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| Summary: | Abstract Introduction Ganglioneuromas (GNs) are rare, benign tumors originating from undifferentiated neural crest cells, especially the autonomic nervous system (sympathetic). Ganglioneuromas, located in the gastrointestinal tract, are classified into three groups: single polypoid lesion, ganglioneuromatous polyposis, and the rarest, diffuse intestinal ganglioneuromatosis. In this report, we present the case of an 11-year-old girl who presented with complete distal intestinal obstruction and was diagnosed with isolated diffuse ganglioneuromatosis. Case Presentation An 11-year-old girl was consulted by our emergency department with complaints of not passing stool for 4 days, abdominal distension, and vomiting. She previously underwent a laparotomy for an acute abdomen three years prior. Severe malnutrition, anemia, and growth retardation were observed. Due to significant abdominal distention and shortness of breath, the patient was taken to surgery with a preliminary diagnosis of ileus. The cecum had a mass-like appearance and was immobile, adhering to the upper right quadrant and the lower corner of the ascending colon. The colon appeared to be unused. Milking of the ileal loops showed no passage through the cecum. A resection was performed, including 2 cm of ileum and an ascending colon, and an ileo-colic anastomosis was performed. The pathology report highlights hyperplasia of ganglion cells and nerve fibers. NSE and S-100 immunohistochemical staining were positive. It is interpreted as consistent with diffuse ganglioneuromatosis. The patient exhibited improvement in malnutrition status and correction of anemia. Genetic analysis has not revealed any mutations. Patient is followed up without complications. Conclusions Since it is a very rare entity, we aimed to draw attention to the importance of the diagnosis. Ileus is a relatively common surgical pathology that needs intervention. The diagnosis is very important, as it can be both a differential diagnosis of surgical pathologies and the first sign of possible related genetic syndromes. |
|---|---|
| ISSN: | 2090-9942 |