Neuronal intestinal dysplasia - literature review and case report

Introduction: Neuronal intestinal dysplasia (NID) is a rare congenital enteroneuropathic disorder affecting the enteric nervous system and leading to impaired intestinal motility, most often manifested by chronic constipation and megacolon. The condition is frequently underestimated due to its nonspecific symptoms and diagnostic challenges. Methods: The literature review was prepared by searching the PUBMED/Medline, Embase, and Cochrane Library databases using the keywords: neuronal intestinal dysplasia, megacolon, chronic constipation, and Hirschsprung's disease. In addition, we present a case of a patient with similar symptoms who was treated surgically. Results: Neuronal intestinal dysplasia is mainly classified into two types – type A (sympathetic dysplasia) and type B (ganglionic dysplasia), the latter being significantly more common. Diagnosis is based on biopsy and specialized histochemical methods (acetylcholinesterase staining, immunohistochemical markers), although there are no uniform histological criteria. The clinical picture includes chronic constipation, abdominal discomfort, and colonic dilatation. Treatment is individualized – conservative (diet, laxatives, enemas) or surgical in severe and drug-resistant cases. We present a clinical case of a 37-year-old patient with long-standing constipation and megacolon, who underwent surgery. Histologically, there are no direct morphological signs of agangliosis. Still, there is follicular hyperplasia and chronic functional intestinal obstruction, indicative of neuronal intestinal dysplasia type B. Postoperative follow-up has reported improvement in symptoms. Conclusion: NID remains a diagnostic and therapeutic challenge due to its similarity to Hirschsprung's disease and other enteroneuropathies. A multidisciplinary approach is required for correct diagnosis and optimal treatment.