Appendicular Biopsy in Total Colonic Aganglionosis: A Histologically Challenging and Inadvisable Practice.

Mohanty, Sriloy; Kini, Usha; Das, Kanishka; Puttegowda, Divya; Yadav, Lokendra; Babu, M. K.; Mahadevappa, Kiran; Kumar, Prasanna; Mahadevaiah, Shubha Attibele; Deb, Mainak

doi:10.2350/15-08-1698-oa.1

Cited by 3 publications

(3 citation statements)

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Section: Discussionmentioning

confidence: 99%

“…A recent case report highlighted a rare instance of total colonic aganglionosis in a Caucasian infant, diagnosed retroactively [ 8 ]. Diagnosis based on histological findings from intestinal sections, ileum, and appendix biopsy samples remains a topic of debate among researchers [ 8 , 9 ]. Some researchers advocate for caution in the diagnosis, expressing reservations about Hirschsprung's disease, emphasizing the importance of consistent clinical presentations irrespective of radiological and biopsy findings [ 3 ].…”

Section: Discussionmentioning

confidence: 99%

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A Rare Case Presentation on Total Colonic Aganglionosis in a Female Infant of Indian Origin

Nayak,

Khedkar,

Gattani

et al. 2023

Cureus

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Total colonic aganglionosis, also called total colonic Hirschsprung's disease, is a known congenital disorder caused by the migration of abnormal embryonic neuroblasts. RET, NRG1, and L1CAM genes are reported as pathological gene variants associated with the incidence of different variants of Hirschsprung's disease. Major clinical presentations are well documented as inefficiency to pass stools, vomiting, fever, persistent crying, and other features of intestinal obstruction. We present here the case of a two-day-old female infant of Indian origin and its diagnostic, clinical, and case management data.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

A Rare Case Presentation on Total Colonic Aganglionosis in a Female Infant of Indian Origin

Nayak,

Khedkar,

Gattani

et al. 2023

Cureus

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“…Different points of view have been expressed in research papers of the past. While some researchers felt that the appendix was an unreliable tool in the diagnosis of TCA, [6][7][8][9] others concluded that the appendix was indeed useful in the diagnosis of TCA. [10][11][12][13] Diagnosis of TCA is challenging.…”

Section: Discussionmentioning

confidence: 99%

Pitfalls in the histological diagnosis of total colonic aganglionosis on appendicectomy specimens

O.H

Srinivas

et al. 2022

Asian J Med Sci

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Background: Hirschsprung’s disease is the most important cause of functional intestinal obstruction in children. It is characterized by the absence of ganglion cells in the submucosal and myenteric plexuses on histology. In 10% of Hirschsprungs disease patients, involvement of the entire colon is seen in a condition called total colonic aganglionosis (TCA). The absence of ganglion cells in the appendix on histology has been considered diagnostic of TCA. The validity of this histological finding being taken as criteria for diagnosis is not clear. Aims and Objectives: This study examines the presence and the number of myenteric and submucosal ganglion cells in the appendices of suspected cases of TCA and compares these findings with controls, specimens of acute appendicitis, and histologically normal appendix in pediatric cases. Materials and Methods: Thirty-six appendix specimens of suspected TCA cases and controls, that is, ten each of acute appendicitis and histologically normal appendix in pediatric age group were included in this study taken up in the pathology department of a tertiary pediatric referral hospital. The presence or absence and the number of ganglion cells in each specimen was semiquantitatively evaluated in a blinded manner. These findings were descriptively compared and analyzed. The difficulties faced by the pathologist in reporting the pediatric appendix specimens were also documented. Results: The cases and controls showed that aganglionosis and no significant difference were noted in the number of ganglion cells per high power field between the cases and controls. The reporting pathologists enumerated quite a few pitfalls and problems encountered by them in the process of interpreting ganglion cell status of pediatric, particularly neonatal appendicectomy specimens. Conclusion: Aganglionosis of the appendix on histology may not be an ideal tool for the diagnosis of TCA. Difficulties in histological characterization of ganglion cells, technical errors in tissue embedding and the presence aganglionic skip areas might cause errors in the interpretation of ganglion cell status of appendix specimens, particularly infants, and neonates.

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Hirschsprung Disease — Current Diagnosis and Management

Das

Mohanty

2017

Indian J Pediatr

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Hirschsprung disease is a common cause of neonatal and infantile large gut obstruction. It is characterised by varying extent of contiguous aganglionosis extending from the anorectum proximally. Since its recognition, the diagnosis and management has continuously evolved with advances in histological evaluation and surgical techniques. This article summarizes the current modalities of investigation and optimal surgical management of Hirschsprung disease and concludes with a reference to the Indian scenario.

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Appendicular Biopsy in Total Colonic Aganglionosis: A Histologically Challenging and Inadvisable Practice.

Cited by 3 publications

References 0 publications

A Rare Case Presentation on Total Colonic Aganglionosis in a Female Infant of Indian Origin

A Rare Case Presentation on Total Colonic Aganglionosis in a Female Infant of Indian Origin

Pitfalls in the histological diagnosis of total colonic aganglionosis on appendicectomy specimens

Hirschsprung Disease — Current Diagnosis and Management

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