Spectrum of Clinicopathological Deviations in Long-Segment Hirschsprung Disease Compared With Short-Segment Hirschsprung Disease: A Single-Institution Study

Abstract

Hirschsprung disease (HSCR) is a congenital disorder characterized by intestinal aganglionosis leading to pseudoobstruction. The majority of cases are limited to the rectum or rectosigmoid (S-HSCR). A variably longer segment can be affected (L-HSCR), which may show many deviations from S-HSCR. We retrospectively reviewed 48 clinicopathologically confirmed total cases of HSCR at a single institution in a 21-year period to identify L-HSCR cases and determine their deviations from known features of S-HSCR. Eight L-HSCR cases were found where aganglionosis extended to the terminal ileum (7/8) or to the splenic flexure (1/8). L-HSCR lacked male preponderance and was in contrast more common in females (6/8). Associated anomalies included congenital heart disease (2) and neonatal hypothyroidism (1), previously underreported associations. The clinical diagnosis of L-HSCR was often delayed (average age at diagnosis 13 days) and the diagnosis was more often made operatively (5/8) rather than on rectal suction biopsy (3/8). Histologically, apart from aganglionosis, neural hyperplasia was either absent or focal, compounding the diagnostic difficulty. Although the number of cases in our study was limited due to the rarity of L-HSCR, this study still highlights the spectrum of deviations of L-HSCR from known clinicopathological features of S-HSCR.

Transition Zone in Total Colonic Aganglionosis and Colorectal Hirschsprung’s Disease Shows a Similar Trend of Mucosal Innervation: Image Processing and Analysis Study

“…In addition, 2 of the 8 cases had submucosal nerve hypertrophy limited to the rectum, and it was absent in 3 of the 8 cases. 10 This study and our observation suggest that although there are some differences in histopathology and clinical presentation between TCA and rectosigmoid HD, the length of TZ in TCA may not be significantly longer than short-segment HD.…”

Thyroid Hormone in the Pathogenesis of Congenital Intestinal Dysganglionosis

“…Furthermore, concomitant occurrence of HG/ HSCR and CH have been reported in children, suggesting a possible role of CH in the pathogenesis of ID. [8][9][10][11][12][13] In this study, PTU decreased T4 content in a dosedependent manner. PTU (25 mg/L) decreased T4 level without affecting the body length and weight at 9 dpf.…”

“…However, a series of cases with concomitant occurrence of ID and CH have been reported, connecting TH alterations with ID. [8][9][10][11][12][13] Zebrafish harbor both excitatory and inhibitory neurons in the ENS, similar to that observed in mammals. 14 Owing to their optical clarity, zebrafish are well suited for in vivo imaging of enteric neurons and studying intestinal motility.…”

Hirschsprung disease: Insights on genes, penetrance, and prenatal diagnosis

“…Short‐segment Hirschsprung disease is defined by the presence of aganglionosis in the rectum, typically with a transition at the rectosigmoid junction, although this form can extend into the rectosigmoid region. Short‐segment Hirschsprung disease is the most common presentation of Hirschsprung disease, comprising 60%‐85% of cases . The diagnosis of ultra‐short segment Hirschsprung disease is controversial, but generally, it is defined by documentation of an aganglionic rectal segment less than 1‐2 cm in length.…”

“…Prior studies of long‐segment colonic aganglionosis have suggested milder presentations with a longer time to acute intestinal obstruction and also the time to diagnosis compared with short‐segment Hirschsprung disease (11‐14 days vs 2‐3 days for short‐segment Hirschsprung disease) . While short‐segment Hirschsprung disease patients have evidence of diffuse neural hyperplasia, biopsy samples from long‐segment Hirschsprung disease patients typically show absent or limited neural hyperplasia limited to the rectum and distal colon . In patients with total colonic aganglionosis, biopsies have shown hypoplasia or absence of myenteric interstitial cells of Cajal depending on the colonic segment affected, in addition to significant reduction in NADPH‐positive nerve trunks …”