Calretinin-Immunoreactive Mucosal Innervation in Very Short-Segment Hirschsprung Disease: A Potentially Misleading Observation

2014 ◽  
Vol 17 (1) ◽  
pp. 28-35 ◽  
Author(s):  
Raj P. Kapur
2019 ◽  
Vol 23 (1) ◽  
pp. 60-71
Author(s):  
Raj P Kapur ◽  
Lusine Ambartsumyan ◽  
Caitlin Smith

Hirschsprung disease (HSCR) is conventionally defined as aganglionosis of the distal rectum and a variable length of proximal contiguous bowel with a transition zone of ganglionic, but neuroanatomically abnormal, bowel located immediately upstream. Recent improvement in our understanding of the pathology and genetics of HSCR and relevant animal models indicates highly variable expressivity. The spectrum of intestinal neuropathology includes patients with very short-segment aganglionosis, limited to the distal 1 to 2 cm of the rectum, and possibly patients with no true aganglionic segment, but nonphysiological transition zone pathology in their distal rectums. The presence or absence of submucosal ganglion cells in a rectal biopsy is not sufficient to exclude these patients, in whom submucosal nerve hypertrophy and/or abnormal cholinergic mucosal innervation may be the only diagnostic clues. In addition, diagnosis or exclusion of HSCR by rectal biopsy now relies in part on mucosal patterns of calretinin immunohistochemistry, with less emphasis on submucosal tissue adequacy and assessment of cholinergic innervation. These recent trends in the surgical pathology approach to rectal biopsies may miss patients at the phenotypically milder end of the malformation spectrum, with profound implications for subsequent management, prognosis, and genetic counseling.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Gunadi ◽  
Gabriele Ivana ◽  
Desyifa Annisa Mursalin ◽  
Ririd Tri Pitaka ◽  
Muhammad Wildan Zain ◽  
...  

Abstract Background Transanal endorectal pull-through (TEPT) is considered the most preferable treatment method for Hirschsprung disease (HSCR) since it is less invasive and has fewer morbidities than transabdominal pull-through. Here, functional outcomes in short-segment HSCR patients after TEPT were assessed and associated with the prognostic factors. Methods Krickenbeck classification was used to assess the functional outcomes in patients with HSCR after TEPT surgery at our institution from 2012 to 2020. Results Fifty patients were involved in this study. Voluntary bowel movement (VBM) was achieved in 82% of subjects. Nine (18%) subjects had soiling grade 1, while two (4%) and two (4%) patients suffered constipation that was manageable with diet and laxative agents, respectively. Patients who underwent TEPT at ≥ 4 years old tended to have soiling more than patients who underwent TEPT at < 4 years old (OR = 16.47 [95% CI 0.9–301.61]; p = 0.06), whereas patients with post-operative complications had 10.5-fold higher risk for constipation than patients without post-operative complications (p = 0.037; 95% CI 1.15–95.92). Multivariate analysis showed male sex was significantly associated with VBM (OR = 9.25 [95% CI 1.34–63.77]; p = 0.024), while post-operative complications were strongly correlated with constipation (OR = 10 [95% CI 1.09–91.44]; p = 0.04). Conclusions The functional outcomes of HSCR patients after TEPT in our institution are considered relatively good. Moreover, the VBM, soiling, and constipation risk after TEPT might be affected by sex, age at TEPT performed, and post-operative complications, respectively, while the age at TEPT performed might not be associated with functional outcomes. Further multicenter studies with a larger sample size are necessary to clarify and confirm our findings.


2014 ◽  
Vol 25 (05) ◽  
pp. 430-434
Author(s):  
Yaohao Wu ◽  
LeXiang Zeng ◽  
Jie Zhang ◽  
Jiajia Zhou ◽  
Ronglin Qiu ◽  
...  

1997 ◽  
Vol 9 (3) ◽  
pp. 243-249 ◽  
Author(s):  
Marco Seri ◽  
Luo Yin ◽  
Virginia Barone ◽  
Alessandra Bolino ◽  
Iacopo Celli ◽  
...  

2021 ◽  
pp. 109352662110593
Author(s):  
Raj P. Kapur ◽  
Jennifer Tisoncik-Go ◽  
Michael Gale

Background Innervation of aganglionic rectum in Hirschsprung disease derives from extrinsic nerves which project from cell bodies located outside the bowel wall and markers that distinguish extrinsic from intrinsic innervation are diagnostically useful. Myelin protein zero (MPZ) is a putative marker of extrinsic glial cells which could distinguish mucosal innervation in aganglionic vs ganglionic colon. Methods Sections and protein blots from ganglionic and aganglionic colon were immunolabeled with MPZ-specific antibodies. Results Immunolabeling of MPZ with a chicken polyclonal or mouse monoclonal antibody confirmed glial specificity and reliably labeled hypertrophic submucosal nerves in Hirschsprung disease. In contrast, a rabbit polyclonal antibody strongly labeled extrinsic and intrinsic nerves, including most mucosal branches. Immunoblots showed MPZ is expressed in mucosal glial cells, albeit at lower levels than in extrinsic nerves, and that the rabbit antibody is more sensitive that the other two probes. Unfortunately, none of these antibodies consistently distinguished mucosal innervation in aganglionic vs ganglionic rectum Conclusions The results suggest that (a) glial cell myelin protein zero expression is influenced more by location (mucosa vs submucosa) than the extrinsic vs intrinsic origin of the accompanied nerves and (b) myelin protein zero immunohistochemistry has limited value as a diagnostic adjunct for Hirschsprung disease.


2018 ◽  
Vol 150 (suppl_1) ◽  
pp. S55-S55
Author(s):  
Kavita Umrau ◽  
Sangtae Ahn ◽  
Saleh Najjar ◽  
Christine Sheehan ◽  
Israel Kasago ◽  
...  

2018 ◽  
Vol 34 (2) ◽  
pp. 255-259 ◽  
Author(s):  
Tianqi Zhu ◽  
Xiaoyi Sun ◽  
Mingfa Wei ◽  
Bin Yi ◽  
Xiang Zhao ◽  
...  

Sign in / Sign up

Export Citation Format

Share Document