Hirschsprung's disease associated enterocolitis: A comprehensive review

Abstract

Hirschsprung’s disease (HSCR) is a congenital disorder characterized by failure of the neural crest cells to migrate and populate the distal bowel during gestation affecting different lengths of intestine leading to a distal functional obstruction. Surgical treatment is needed to correct HSCR once the diagnosis is confirmed by demonstrating the absence of ganglion cells or aganglionosis of the affected bowel segment. Hirschsprung’s disease associated enterocolitis (HAEC) is an inflammatory complication associated with HSCR that can present either in the pre- or postoperative period and associated with increased morbidity and mortality. The pathogenesis of HAEC remains poorly understood, but intestinal dysmotility, dysbiosis and impaired mucosal defense and intestinal barrier function appear to play a significant role. There is no clear definition for HAEC, but the diagnosis is primarily clinical, and treatment is guided based on severity. Here, we aim to provide a comprehensive review of the clinical presentation, etiology, pathophysiology, and current therapeutic options for HAEC.

Clinical features of the course of Hirschsprung’s disease in newborns and infants with consideration of the extent of colonic aganglionosis

“…Our research correlates with the data of review publications by E.M. Gershon et al [6] and P.K. Frykman & S.S. Short [4], that there is a predominance of male patients over female patients with HD in newborns and infants with the ratio of 4:1.…”

“…The extent of CA varies from the lesion of a short segment involving the rectum and sigmoid colon in 75-80% of cases, total aganglionosis of the colon in 5-7%. From 10 to 15% we had aganglionosis extending proximal to the sigmoid colon, or subtotal aganglionosis which is also called «long segment disease» [6]. In our study the extent of CA was as follows: rectal form -in 11.18%, rectosigmoid form -in 17.80%, subtotal formin 30.23%, total form -in 8.49%.…”

Considering Hirschsprung‐associated enterocolitis in infants dehydration: Misdiagnosis risk and management of an underestimated lethal disease

“…It can occur as an exacerbation in patients with known Hirschprung Disease (HD) or as the onset of previously undetected HD, in patients with history of delayed passage of meconium at birth or of chronic constipation. Recently, the debate concerning HAEC has become particularly intense because it remains a relatively frequent cause of morbidity, often due to delayed diagnosis and has a relevant mortality rate, historically up to 50%, but recently constantly declining due to improved surgical and medical treatment 1 …”

“…In conclusion, considering the high lethality of this disease and the need of specific and radically different treatments from those generally used for gastroenteritis, despite the relative low prevalence of HD among children, the diagnosis of HAEC should always be taken into consideration while evaluating healthy infants with suspected enterocolitis or with diarrhoea following intestinal obstruction, and it must always be suspected in patients with known HD associated with gastrointestinal symptoms and a rapid clinical deterioration 1 …”

Comparison of Long-term Outcomes between Hirschsprung's Disease Patients after Soave Procedure and Duhamel Procedure Based on the Paediatric Incontinence and Constipation Scoring System: A Retrospective Cohort Study

“…The advantage of this procedure is that it has a lower risk of pelvic dissection of intra-abdominal organs, such as bleeding, injury to other organs and the formation of adhesions. However, this procedure can cause functional obstruction due to the remaining seromuscular layer in the ganglionic segment [28,29,30,24,31] Although currently, the Duhamel procedure is one of the most is widely used to treat Hirschsprung's disease, but there is still some debate regarding which technique offers the best results [32,33,34]. The absence of incontinence and constipation after the procedure is the most important indicator in determining which procedure is better.2, 30 This study aims to determine the long-term outcomes of Hirschprung patients after Duhamel and Soave surgery at Dr. Moewardi General Hospital in Surakarta, Central Java, Indonesia.f…”