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Introduction <p>Intestinal ganglioneuromatosis (GNM) is a rare disorder of the enteric nervous system. Symptoms can range from abdominal pain and changes in bowel habits to intestinal obstruction, although it may also be asymptomatic and discovered incidentally. GNM is classified into three types: polypoid ganglioneuromatosis, ganglioneuromatous polyposis and diffuse ganglioneuromatosis.&#xa0;The latter two forms are often linked to systemic disorders such as Multiple Endocrine Neoplasia 2b, Neurofibromatosis 1 and Cowden syndrome.</p> <p>Ganglioneuromatosis, however, can affect other areas of the body besides the intestine. Examples include involvement of the urinary bladder, respiratory tract, skin, and central nervous system, where it may cause a variety of symptoms depending on the location and extent of nerve and ganglion cell proliferation.</p> Case report <p>We report the case of a&#xa0;77-year-old woman with chronic anemia and changes in bowel habits. A CT scan revealed thickening of a jejunal segment. Further tests showed multiple ulcers in the jejunum and ileum. The patient underwent a laparoscopic segmental enterectomy, with resection of 60&#xa0;cm of the small intestine. Histology confirmed diffuse ganglioneuromatosis. Genetic testing did not identify any syndromic associations.</p> Discussion/conclusion <p>GNM is extremely rare in adults, making diagnosis and treatment particularly challenging. A definitive diagnosis is only made through histopathological examination. In this case, diffuse GNM caused ileum stenosis, which could easily be mistaken for other conditions, such as Crohn’s disease, based on imaging alone. Differential diagnoses should include intestinal tumors, tuberculosis and other conditions. Further research on GNM is needed to establish guidelines, as there is no standardized approach for treatment or follow-up.</p>

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Intestinal diffuse ganglioneuromatosis as a rare cause of chronic anemia in adulthood: a case report

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年11月18日

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  • Diogo Cruz,
  • Rita Ribeiro Dias,
  • Vitorino Garrido,
  • Carolina Leal,
  • Silvestre Carneiro

摘要

Introduction

Intestinal ganglioneuromatosis (GNM) is a rare disorder of the enteric nervous system. Symptoms can range from abdominal pain and changes in bowel habits to intestinal obstruction, although it may also be asymptomatic and discovered incidentally. GNM is classified into three types: polypoid ganglioneuromatosis, ganglioneuromatous polyposis and diffuse ganglioneuromatosis. The latter two forms are often linked to systemic disorders such as Multiple Endocrine Neoplasia 2b, Neurofibromatosis 1 and Cowden syndrome.

Ganglioneuromatosis, however, can affect other areas of the body besides the intestine. Examples include involvement of the urinary bladder, respiratory tract, skin, and central nervous system, where it may cause a variety of symptoms depending on the location and extent of nerve and ganglion cell proliferation.

Case report

We report the case of a 77-year-old woman with chronic anemia and changes in bowel habits. A CT scan revealed thickening of a jejunal segment. Further tests showed multiple ulcers in the jejunum and ileum. The patient underwent a laparoscopic segmental enterectomy, with resection of 60 cm of the small intestine. Histology confirmed diffuse ganglioneuromatosis. Genetic testing did not identify any syndromic associations.

Discussion/conclusion

GNM is extremely rare in adults, making diagnosis and treatment particularly challenging. A definitive diagnosis is only made through histopathological examination. In this case, diffuse GNM caused ileum stenosis, which could easily be mistaken for other conditions, such as Crohn’s disease, based on imaging alone. Differential diagnoses should include intestinal tumors, tuberculosis and other conditions. Further research on GNM is needed to establish guidelines, as there is no standardized approach for treatment or follow-up.