Hirschsprung’s Disease: Diagnosis and Management

- Md Benzamin Md Benzamin,- Md Rukunuzzaman Md Rukunuzzaman,Asm Bazlul Karim,Md Wahiduzzaman Mazumder

doi:10.3329/jemc.v10i2.53536

- Md Benzamin Md Benzamin, - Md Rukunuzzaman Md Rukunuzzaman + Show 2 more

Open Access

https://doi.org/10.3329/jemc.v10i2.53536

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Abstract

Hirschsprung’s disease (HD) is a rare genetic congenital defect of intestine causing failure of migration of parasympathetic ganglionic cells in some definite part of intestine, resulting in functional intestinal obstruction. It commonly involves rectosigmoid region of colon but other parts of colon or total colon, even small intestine may be affected. Incidence is 1/5000 live births. It is one of the common pediatric surgical problems and 2nd most organic cause of constipation. Symptoms may be evident from 1st day of life. About 90% infants with Hirschprung’s disease fail to pass meconium in 1st 24 hours of life. About 80% HD cases are diagnosed in early few months of life and present with abdominal distention, constipation, poor feeding, vomiting etc. HD enterocolitis is a devastating condition related to mortality. HD may be associated with some congenital anomalies and syndrome. High index of suspicion is the main key to diagnosis. Radiological investigation supports the diagnosis and rectal biopsy for histopathology is confirmatory. Although it is a surgical problem, physician can play a key role in early diagnosis and thus help to prevent HD enterocolitis-related mortality and restore near-normal life. J Enam Med Col 2020; 10(2): 104-113

Highlights

Hirschsprung’s disease (HD) or congenital intestinal aganglionosis is a birth defect characterized by complete absence of neuronal ganglion cells in the myenteric Auerbach’s plexus, the deep submucosal Henle’s plexus, and the submucosal Meissner’s plexus from a portion of the intestinal tract
Symptoms range from neonatal intestinal obstruction to chronic progressive constipation in older children (Table I).[20,21,31]
There may be urinary incontinence, In a newborn infant differential diagnoses are: 1) meconium ileus resulting from cystic fibrosis, (2) intestinal malformations such as lower ileal and colonic atresia, isolated or occasionally associated with HSCR, intestinal malrotation, or duplication, (3) enteric nervous system (ENS) anomalies grouped together as chronic intestinal pseudo-obstruction syndromes, and (4) functional intestinal obstruction resulting from maternal infection, maternal intoxication, or congenital hypothyroidism.[1,31]

Summary

Introduction

Hirschsprung’s disease (HD) or congenital intestinal aganglionosis is a birth defect characterized by complete absence of neuronal ganglion cells in the myenteric Auerbach’s plexus, the deep submucosal Henle’s plexus, and the submucosal Meissner’s plexus from a portion of the intestinal tract. Due to absence of parasympathetic ganglion cells in the distal colon there is lack of coordinated peristalsis and loss of involuntary relaxation of the internal anal sphincter, which leads to functional bowel obstruction.

Results

Conclusion