Intestinal Neuronal Dysplasia presenting at adulthood: A Case Report

Abstract

Intestinal Neuronal Dysplasia (IND) is a rare and complex gastrointestinal disorder that affects the enteric nervous system. It is described as a congenital malformation of gastrointestinal innervation and is caused by dysplastic embryonal development of the enteric nervous system. IND is potentially associated with mild and chronic gastrointestinal motility disturbances and is rarely reported in adults. We present the case of a 31-year-old female, who presented with gross distension of abdomen along with abdominal pain, constipation and difficulty in breathing. The initial management of the patient included immediately intubation and needle decompression as the increased intra-abdominal pressure was severely restricting lung expansion on Chest X-ray. A CT done subsequently revealed an extensive dilatation of small and large bowel loops proximal to the distal sigmoid colon with partial rotation of mesentery seen in distal sigmoid. A total colectomy with Hartmann’s procedure was performed with an ileostomy in the RIF. Microscopic examination revealed features that were consistent with Intestinal Neuronal Dysplasia: completely ganglionated plexuses with very subtle alterations in morphology, size and number of ganglia. A few crowded miniatured ganglia were seen along with “giant ganglia”; a characteristic microscopic finding for IND. Hence, a diagnosis of Intestinal Neuronal Dysplasia was established. This case highlights the challenges in the diagnosis and management of IND, and the need for further research to better understand the pathophysiology of this disorder and to develop evidence-based guidelines for its diagnosis and management.