Abstract

Objective: To assess the clinical and morphologic features of Hirschsprung disease and to correlate them with the anatomic types of disease.
Methodology: This cross-sectional study was conducted in the Pathology department of Pakistan Institute of Medical Sciences from September 2018 to September 2019. Colonic biopsies suspicious for Hirschsprung disease were subject to routine tissue processing. Age, gender and presenting complaints were noted. The Hemotoxylin & Eosin sections were studied and only those cases were included which showed aganglionosis. Diagnosis was confirmed with calretinin immunostaining in doubtful cases. The anatomic type of Hirschsprung disease was determined by the clinical history and site of biopsy. Data were analysed using SPSS 23.
Results: Total number of biopsies with aganglionosis were 53. Male to female ratio was 4:1. Most common presenting complaint was constipation (51%). Nerve hypertrophy was present in 23(43.3%), inflammation was present in all cases. Most common was moderate inflammation in 20 (37.7%) and arterial fibromuscular dysplasia in 39(73.5%) cases. Short segment type was the most common anatomic type in all age groups with male predominance in all types.
Conclusion: Most common clinical feature was constipation. Along with absence of ganglion cells, inflammation and arterial fibromuscular dysplasia are commonly present but submucosal nerve hypertrophy may not be present in all cases. The most common anatomical type of Hirschsprung disease was short segment type in all age groups with male predominance.

Key words: Hirschsprung disease, calretinin, hypertrophy, fibromuscular dysplasia.