Skip segment Hirschsprung’s disease: a case report and novel management technique

Raghunath, B. V.; Shankar, Gowri; Babu, M Narendra; Kini, Usha; Ramesh, S; Jadhav, Vinay; Aravind, K L

doi:10.1007/s00383-013-3367-8

Cited by 13 publications

(6 citation statements)

References 6 publications

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“…Such perplexing situations on frozen are overcome by a detailed examination of multiple cross sections of the entire appendix—the base examined separately from the rest. The skip segment aganglionosis involving the appendix (Figure 7(A)) in a TCA has been detailed elsewhere, 22 and earlier reports have involved different parts of the colon especially transverse colon (like the other case detailed here, Figure 7(B)), ascending colon, and cecum. 19…”

Section: Discussionsupporting

confidence: 58%

Appendicular Biopsy in Total Colonic Aganglionosis

et al. 2017

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Background The reliability of intraoperative evaluation of ganglion cells in the appendix as a guide to a diagnosis of total colonic aganglionosis is unclear. Objective To evaluate the diagnostic utility of appendicular innervation in colonic Hirschsprung disease (HD) and TCA. Methods Prospective, systematic study of ganglion cells and the neural plexii in appendices from cases (HD and TCA) and age matched controls with frozen and paraffin sections, rapid acetylcholinesterase (AChE) and immunohistochemistry. Results A total of 48 appendices (28 controls, 20 cases; 19 frozen) were evaluated. Of these 48, 30 were neonates. Ganglion cell clusters were smaller in controls (28) and HD (6) than those in the rectum, distorted at places and mimicked lymphocytes and endothelial cells, especially in neonates. Complete study of 13 appendices in TCA showed absence of ganglion cells, hypertrophic nerves, AChE activity, and calretinin staining. In 2/13 TCA, an erroneous frozen section identification of ganglia was later corrected based on AChE histochemistry and a panel of IHC stains. Ileal biopsies guided the placement of a ganglionic ileostomy in all. One case each of skip segment aganglionosis in a TCA and variable hypoganglionosis in long segment colonic HD is reported. Conclusion Intraoperative characterization of appendicular innervation as a guide to the diagnosis of TCA is unreliable, in part because of the possibility of skip segment disease/variable hypoganglionosis. We propose terminal ileal biopsies for diagnosis and leveling of aganglionosis. AChE on frozen/calretinin on paraffin tissue is the best approach to avoid diagnostic errors.

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Section: Discussionsupporting

confidence: 58%

Appendicular Biopsy in Total Colonic Aganglionosis

et al. 2017

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“…Three phenotypes are usually recognized, including (i) total colonic aganglionosis (TCA), which involves the entire colon which is aganglionic with a potential proximal extension into varying lengths of small bowel (usually no more than 50 cm of small bowel proximal to the ileocaecal valve), (ii) total colonic and small bowel aganglionosis, which may involve very long segments of small bowel aganglionosis, and (iii) the more frequent rectal or rectal/sigmoid colonic aganglionosis (RA or RSCA). A debate over the definition and occurrence of several phenotypical entities, including the ultrashort segment and the skip-segmental aganglionosis is ongoing (13,(16)(17)(18)(19)(20)(21)(22). The majority of treatment remains surgical, while intense efforts are exploring the use of ENS stem cells by means of transplantation (12,23).…”

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confidence: 99%

Hirschsprung’s disease: clinical dysmorphology, genes, micro-RNAs, and future perspectives

et al. 2016

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On the occasion of the 100th anniversary of Dr. Harald Hirschsprung's death, there is a worldwide significant research effort toward identifying and understanding the role of genes and biochemical pathways involved in the pathogenesis as well as the use of new therapies for the disease harboring his name (Hirschsprung disease, HSCR). HSCR (aganglionic megacolon) is a frequent diagnostic and clinical challenge in perinatology and pediatric surgery, and a major cause of neonatal intestinal obstruction. HSCR is characterized by the absence of ganglia of the enteric nervous system, mostly in the distal gastrointestinal tract. This review focuses on current understanding of genes and pathways associated with HSCR and summarizes recent knowledge related to micro RNAs (miRNAs) and HSCR pathogenesis. While commonly sporadic, Mendelian patterns of inheritance have been described in syndromic cases with HSCR. Although only half of the patients with HSCR have mutations in specific genes related to early embryonic development, recent pathway-based analysis suggests that gene modules with common functions may be associated with HSCR in different populations. This comprehensive profile of functional gene modules may serve as a useful resource for future developmental, biochemical, and genetic studies providing insights into the complex nature of HSCR.

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“…Neural hypertrophy is absent in cases of TCA and TCSA, further complicating the identification of a potential transition zone. We identified three case reports that describe an unusual form of HD where the patients presented with multiple skip segments of aganglionosis [8–10]. No reports have identified de novo or delayed appearance of ganglion cells on serial biopsies.…”

Section: Discussionmentioning

confidence: 99%

Delayed appearance of mature ganglia in an infant with an atypical presentation of total colonic and small bowel aganglionosis: a case report

et al. 2019

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Background Total colonic and small bowel aganglionosis (TCSA) occurs in less than 1% of all Hirschsprung’s disease patients. Currently, the mainstay of treatment is surgery. However, in patients with TCSA, functional outcomes are often poor. A characteristic transition zone in TCSA can be difficult to identify which may complicate surgery and may often require multiple operations. Case presentation We present the case of a male infant who was diagnosed with biopsy-proven total colonic aganglionosis with extensive small bowel involvement as a neonate. The patient was diverted at one month of age based on leveling biopsies at 10 cm from the Ligament of Treitz. At 7 months of age, during stoma revision for a prolapsed stoma, intra-operative peristalsis was observed in nearly the entire length of the previously aganglionic bowel, and subsequent biopsies demonstrated the appearance of mature ganglion cells in a previously aganglionic segment. Conclusions TCSA remains a major challenge for pediatric surgeons. Our case introduces new controversy to our understanding of aganglionosis. Our observations warrant further research into the possibility of post-natal ganglion maturation and encourage surgeons to consider a more conservative surgical approach.

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Skip segment Hirschsprung’s disease: a case report and novel management technique

Cited by 13 publications

References 6 publications

Appendicular Biopsy in Total Colonic Aganglionosis

Appendicular Biopsy in Total Colonic Aganglionosis

Hirschsprung’s disease: clinical dysmorphology, genes, micro-RNAs, and future perspectives

Delayed appearance of mature ganglia in an infant with an atypical presentation of total colonic and small bowel aganglionosis: a case report

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