Hirschsprung’s Disease in Neonates with Special Reference to Calretinin Immunohistochemistry

Mukhopadhyay, Biswanath; Mukhopadhyay, Madhumita; Mondal, Kartic Chandra; Sengupta, Moumita; Paul, Antara

doi:10.7860/jcdr/2015/12470.6180

Cited by 8 publications

(10 citation statements)

References 14 publications

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“…Keeping in mind the importance of histopathological diagnosis of HD and the fact that HD is a potentially treatable surgical disease, it will reduce the interobserver and intraobserver variability in diagnosis. 7 In the present study the patient age ranges from two months to 10 years with male: female ratio of 3.2:1 and the major presenting complaint was constipation (94.5%). RM Jankovic conducted a study in Serbia and also quoted a male predominance of the disease and similar distribution of presenting complaints.…”

Section: Discussionmentioning

confidence: 72%

Is nerve bundle hypertrophy a reliable criteria for diagnosing Hirschsprung disease? A case control study using Calretinin as an adjunct tool for confirming Hirschsprung disease.

Sarwar

Qaiser

Mumtaz

et al. 2022

TPMJ

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Objective: To determine the frequency of nerve bundle hypertrophy in aganglionic segments in relation to the site of biopsy, along with the assessment of value of Calretinin immunostaining in the diagnosis of suspected cases of Hirschsprung disease. Study Design: Cross Sectional study. Setting: Department of Pathology, Pakistan Institute of Medical Sciences (PIMS) Islamabad. Period: September 2018 to March 2019. Material & Methods: After routine tissue processing colonic biopsies were examined for presence of ganglion cells and hypertrophic nerve presence or absence. Diagnosis of Hirschsprung disease was based on the absence of ganglion cells in submucosal and myenteric plexus, the presence or absence of hypertrophic nerves (more than 4 nerves >30 µm thick/×200 field or more than 2 nerves >40 µm thick/×200 field) was also noted in all cases of Hirschsprung disease (aganglionic segments). Calretinin immunostaining was applied to all the cases and controls and findings were recorded as positive or negative staining. Statistical Analysis: Data was analyzed using SPSS version 23. Qualitative data was calculated as frequencies and percentages. Pearson Chi square test was used to establish the association of nerve bundle hypertrophy with the site of biopsy. Results: Total biopsies were 60; 30 each from ganglionic and aganglionic segments. Calretinin sensitivity in our study was 90%, specificity 83.3%. In 30 cases of aganglionosis hypertrophic nerves were present in 13(21.7%) and they were absent in 17 (28.3%). No significant association (p value= 0.447) was seen in nerve bundle hypertrophy and site of biopsy. Conclusion: Calretinin immunohistochemistry can be used as a reliable ancillary technique in the diagnosis of HD. Aganglionosis may not always be associated with submucosal nerve hypertrophy which alone should not be used as a criteria for HD diagnosis but instead adjunct methods like Calretinin immunostaining must be utilized to confirm presence or absence of ganglion cells. There is no association of nerve hypertrophy with site of biopsy.

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Section: Discussionmentioning

confidence: 72%

Is nerve bundle hypertrophy a reliable criteria for diagnosing Hirschsprung disease? A case control study using Calretinin as an adjunct tool for confirming Hirschsprung disease.

Sarwar

Qaiser

Mumtaz

et al. 2022

TPMJ

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“…Immunohistochemistry, particularly calretinin and acetylcholinesterase staining, is crucial in the diagnosis of Hirschsprung disease in children and neonates, as it aids in identifying immature ganglionic cells within the submucosal and myenteric plexuses [13,14]. Due to the lack of facilities, anal manometry was not conducted at our tertiary care center.…”

Section: Discussionmentioning

confidence: 99%

Chronic Constipation Unmasking as Hirschsprung Disease in a Preadolescent: Delayed Presentation or Delayed Diagnosis?

Bhargava,

Khedkar

2024

Cureus

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Hirschsprung disease, a rare genetic disorder affecting the enteric nervous system, is characterized by the absence of ganglion cells in the myenteric plexus. Typically identified in neonates due to the failure to pass meconium, diagnosis beyond the first year of life is considered delayed. Common clinical manifestations in children with late-onset Hirschsprung disease include abdominal distension, abdominal pain, vomiting, fever, and abnormal bowel sounds. Sigmoid volvulus, though uncommon, can complicate Hirschsprung disease, potentially leading to misdiagnosis and severe complications such as intestinal perforation, hemorrhage, sepsis, and even mortality. Non-surgical interventions such as antibiotic therapy, intestinal decompression, and fluid resuscitation are preferred initial treatments to stabilize the patient. This case involves a 9-year-old boy who has presented with abdominal distension since birth and a lengthy history of irregular bowel habits. The diagnosis of Hirschsprung disease was confirmed at our institution, and the patient underwent a two-stage repair procedure, which was completed without any intraoperative or postoperative complications. The patient experienced an uneventful recovery, was discharged with stable vital signs, and regained normal bowel function. This case highlights the challenges of delayed diagnosis at nine years and underscores the importance of prompt management.

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“…In our study sensitivity of calretinin positivity for ganglion cells was 100%, specificity was 68.75%, while positive and negative predictive values were 85.33% and 100%, respectively. Mukhopadhyay et al [ 18 ] stated that sensitivity of calretinin positivity for ganglion cells was 100%, specificity was 97.44%, while positive and negative predictive values were 84.62% and 100%, respectively.…”

Section: Discussionmentioning

confidence: 99%

Diagnostic Role of Calretinin in Suspicious Cases of Hirschsprung’s Disease

Singh

Gupta

Aggarwal

et al. 2021

Cureus

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Hirschsprung’s Disease in Neonates with Special Reference to Calretinin Immunohistochemistry

Cited by 8 publications

References 14 publications

Is nerve bundle hypertrophy a reliable criteria for diagnosing Hirschsprung disease? A case control study using Calretinin as an adjunct tool for confirming Hirschsprung disease.

Is nerve bundle hypertrophy a reliable criteria for diagnosing Hirschsprung disease? A case control study using Calretinin as an adjunct tool for confirming Hirschsprung disease.

Chronic Constipation Unmasking as Hirschsprung Disease in a Preadolescent: Delayed Presentation or Delayed Diagnosis?

Diagnostic Role of Calretinin in Suspicious Cases of Hirschsprung’s Disease

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