Abstract

To assess the diagnostic accuracy of haematoxylin-eosin staining in clinically suspected Hirschsprung disease, and to compare the findings with calretinin and S100 immunohistochemistry. The retrospective study was conducted at the AL-Khansaa Teaching Hospital, Nineveh, Iraq, and comprised data from January 2017 to October 2020 of rectal suction biopsies of patients with clinically and radiologically suspected Hirschsprung disease. Histopathology and immunohistochemistry were performed. Data was analysed using SPSS 16. Of the 114 patients, 74(64.9%) were males and 40(35.1%) were females. Based on histology, 28(24.6%) cases were negative for ganglion cells, and, of them 25(89.2%) revealed nerve bundle hypertrophy. The diagnostic accuracy for the detection of ganglion cell and nerve hypertrophy using haematoxylin-eosin stain was 99.1% and 94.4%, respectively. Correlation of haematoxylin-eosin staining with calretinin and S100 was statistically near perfection (κ= 0.976 and κ = 0.923), respectively. The mainstay to confirm or exclude Hirschsprung disease remains an accurate histopathological evaluation of the haematoxylin-eosin-stained sections of an adequate colorectal biopsy.

Highlights

  • Hirschsprung disease (HD) is a congenital disorder with complex patterns of inheritance[1, 2]

  • Correlation of haematoxylin-eosin staining with calretinin and

  • If HD is clinically suspected, an adequate rectal biopsy is recommended for establishing the diagnosis, followed by surgical resection of the affected segment pulled through the healthy intestine[1, 2]

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Summary

Introduction

Hirschsprung disease (HD) is a congenital disorder with complex patterns of inheritance[1, 2]. The estimated prevalence of the disease is at the level of 1/5000 newborns with 4:1 male-to-female predominance [2]. If HD is clinically suspected, an adequate rectal biopsy is recommended for establishing the diagnosis, followed by surgical resection of the affected segment pulled through the healthy intestine[1, 2]. Haematoxylin-eosin (HE) remains the gold standard, and is a universally utilised approach for the evaluation of clinically suspected intestinal aganglionosis in rectal biopsies[3]. HE has some challenges in that a precise diagnosis depends on the pathologist’s experience of analysing multiple serial sections for the presence or absence of ganglion cells[4, 5]. The surgeon's skill to obtain an adequate rectal biopsy sample the mucosa and submucosa is critical[7]

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