Congenital Segmental Intestinal Dilatation: A 25-Year Review with Long-Term Follow-up at the Medical University of Innsbruck, Austria

Abstract

Background and Aim Congenital segmental intestinal dilatation (CSID) is a neonatal condition with unclear etiology and pathogenesis. Typically, the newborn with CSID presents with a limited (circumscribed) bowel dilatation, an abrupt transition between normal and dilated segments, neither intrinsic nor extrinsic perilesional obstruction, and no aganglionosis or neuronal intestinal dysplasia. We aimed to review this disease and the long-term follow-up at the Children's Hospital of the Medical University of Innsbruck, Tyrol, Austria. Study Design Retrospective 25-year review of medical charts, electronic files, and histopathology of neonates with CSID. Results We identified four infants (three girls and one boy) with CSID. The affected areas included duodenum, ileum, ascending colon, and sigmoid colon. Noteworthy, all patients presented with a cardiovascular defect, of which two required multiple cardiac surgical interventions. Three out of the four patients recovered completely. To date, the three infants are alive. Conclusion This is the first report of patients with CSID and cardiovascular defects. The clinical and surgical intervention for CSID also requires a thorough cardiologic evaluation in these patients. CSID remains an enigmatic entity pointing to the need for joint forces in identifying common loci for genetic investigations.

Keywords: Hirschsprung's disease; aganglionosis; dilatation; heart defect; intestine; obstruction.

Fig. 1

(a) Patient 1: Scheme of the operation site with the malformations of the lower gastrointestinal tract (dilatation of the ascending colon, atresia of the descending colon, blindly closed rest of the sigmoid colon and the rectum, as well as anal atresia) after a double-barreled colostomy at the transverse colon. (b) Patient 1: Operative site of the CSID of the ascending colon. (c) Patient 2: Plain abdominal X-ray showing a sizeable gas-filled bowel loop in right upper abdominal quadrant. (d) Patient 2: Operative site of the mobile dilated duodenum. (e) Patient 3: Scheme of the circumscribed dilatation of the lowest part of the sigmoid colon. (f) Patient 3: Operative site of the dilated segment of the sigmoid colon (diameter of 10 cm), the oral colon with standard configuration. (g) Patient 4: Upper gastrointestinal X-ray series showing pooling of the contrast media in a dilated loop of the ileum in the right hemiabdomen. (h) Patient 4: Intraoperative photograph of an 18-cm-long segmental dilatation of the middle ileum. The arrow in (h) points to the segmental dilatation of the portion of the intestine. The transition of normal bowel on both ends did not show any sign of mechanical obstruction. CSID, congenital segmental intestinal dilatation.

Fig. 2

(a, b) Microphotograph of CSID (Patient 4) with thin external muscle layer (hematoxylin and eosin ×40) and dilated lymphatic vessels of the submucosa (hematoxylin and eosin staining, ×40 original magnification); (c) microphotograph of CSID (Patient 3) showing sclerosis of the submucosa (hematoxylin and eosin staining, ×20 original magnification); and (d) microphotograph of the “pyloric tumor” showing hypertrophic muscle layers with some scattered glandular proliferations corresponding to a gastric adenomyoma of the pyloric region (hematoxylin and eosin staining, ×100 original magnification). The yellow arrows in (a) and (b) point to the very thin muscularis propria, while the yellow arrows in (c) and (d) point to the sclerosis of the submucosa and to the gastric adenomyoma of the pylorus, respectively. The gastric adenomyoma of the pylorus is characterized by glandular structures lined by cuboidal to columnar epithelium surrounded by hypertrophic smooth muscle bundles by histological examination. CSID, congenital segmental intestinal dilatation.