The Value of Calretinin in the Diagnosis of Hirschsprung&amp;apos;s Disease in Dakar

Abdou Magib Gaye,Ibou Thiam,Sophia Raafa,Gabriel Nougnignon Comlan Deguenonvo,Cherif Mouhamed Moustapha Dial,Marie Joseph Dieme-Ahouidi

doi:10.11648/j.ajp.20210703.27

The Value of Calretinin in the Diagnosis of Hirschsprung&apos;s Disease in Dakar

Abdou Magib Gaye, Ibou Thiam + Show 4 more

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https://doi.org/10.11648/j.ajp.20210703.27

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Abstract

Introduction: Hirschsprung's disease is a congenital anomaly characterised by a rarefaction or absence of ganglion cells associated with schwannian hyperplasia or hypertrophy involving the colon or a segment of the colon. Its diagnosis is based on clinical, radiological and histological evidence. Haematoxylin-eosin examination is used in cases of suspected Hirschsprung's disease. However, in some situations it is insufficient to confirm or refute the diagnosis. Immunohistochemical and histo-enzymatic techniques can be used to demonstrate aganglionosis. The aim of our study is to evaluate the interest of calretinin in the diagnosis of Hirschsprung's disease in Dakar. Materials and methods: This was a retrospective and descriptive study from 1 January 2018 to 31 August 2019. It was conducted at the pathology laboratory of Idrissa Pouye General Hospital where 51 paraffin blocks from suspected Hirschsprung's Disease cases were included. All blocks were immunohistochemically studied with anti-calretinin antibody. The diagnosis of Hirschsprung's disease on standard histological examination was based on the absence of lymph node cells in the submucosal and myenteric plexuses. Calretinin immunoreactivity was shown by nuclear and cytoplasmic labelling of ganglion cells and nerve nets. In Hirschsprung's disease, there is an absence of labelling of the nerve plexuses. Results: The majority of patients (73.5%) were aged 2 years or older with a mean age of 3.4 years. The sex ratio was 2. Biopsies constituted 56.86% of the specimens and surgical specimens 43.14%. Concordance between haematoxylin-eosin examination and calretinin immunohistochemistry was observed in 47 cases (92.15%) and discordance in 4 cases (7.15%). The sensitivity of calretinin was 93.75% and the specificity 89.47%. The kappa index was 0.92. The recto-sigmoid form was the most frequent topographic form observed in 83.3% of patients. Conclusion: Morphological examination with haematoxylin-eosin remains a good diagnostic method for Hirschsprung's disease. Calretinin immunohistochemistry is necessary in equivocal cases, in neonates and infants and in case of superficial biopsies.

Highlights

Hirschsprung's disease is a congenital anomaly characterised by a rarefaction or absence of ganglion cells associated with schwannian hyperplasia or hypertrophy involving the colon or a segment of the colon
Hirschsprung's disease (HD) is a congenital anomaly of the enteric nervous system responsible for colonic motility disorders usually leading to neonatal intestinal obstruction [1]
The absence of calretinin immunostaining was observed in 30 of the 32 samples taken from the diseased area, confirming the diagnosis made at haematoxylin- eosin, and calretinin immunoreactivity was noted in 17 of the 19 samples from the presumed healthy zone, i.e. a concordance of 92.15%

Summary

Introduction

Hirschsprung's disease is a congenital anomaly characterised by a rarefaction or absence of ganglion cells associated with schwannian hyperplasia or hypertrophy involving the colon or a segment of the colon. Haematoxylin-eosin examination is used in cases of suspected Hirschsprung's disease. The aim of our study is to evaluate the interest of calretinin in the diagnosis of Hirschsprung's disease in Dakar. Materials and methods: This was a retrospective and descriptive study from 1 January 2018 to 31 August 2019 It was conducted at the pathology laboratory of Idrissa Pouye General Hospital where 51 paraffin blocks from suspected Hirschsprung's Disease cases were included. The diagnosis of Hirschsprung's disease on standard histological examination was based on the absence of lymph node cells in the submucosal and myenteric plexuses. In the majority of patients, HD manifests as delayed meconium output in the first few hours of life [3] It is diagnosed in the neonatal period in 91% of cases. It can be seen in later life in children, adolescents and exceptionally in adults [4].

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