Hirschsprung disease: current perspectives

Abstract

Hirschsprung disease is a complex congenital condition of the intestine, which is recognized as being of genetic origin and results from a disturbance of the normal development of the enteric nervous system. As a result, aganglionosis of the distal bowel occurs. It is the most common cause of a low intestinal obstruction in the neonate as well as older children. Occurring as an isolated condition in 70% of cases, it may be associated with other associated congenital abnormalities as well as a number of syndromic phenotypes. A number of distinct genetic sites have been identified in these syndromic phenotypes, which identify potential underlying genetic associations of the disease and indicate the probable gene-gene interaction in its pathogenesis. This review looks at the prevalence, congenital associations, and possible genetic factors influencing the development of Hirschsprung disease. Diagnostic dilemmas, surgical management, potential postsurgical complications, and outcomes are also explored.

Evaluation of suspicious Hirschsprung disease in children using radiologic investigation method: a prospective observational study

“…Diagnosis is then confirmed by other tests (e.g., histology of rectal biopsies). 3 Previous studies have shown the transition zone and reversed recto-sigmoid index as the most common radiological signs in CE. 14,34,35 The sensitivity and specificity of CE in the diagnosis of HD have shown a wide range, between 60%-100%.…”

“…Whereas normal babies pass meconium within 24 hours, and even up to 48 hours, any baby who passes no or little meconium even after 24 hours should be investigated for HD. 3 Intestinal obstruction presents with bile-stained vomit, and abdominal distention is often present by day 2. In developing countries, presentation may be significantly late, and the main symptoms include abdominal distention, constipation, or diarrhea, with failure to thrive and developmental delay.…”

“…Stools when passed are irregular and passed with great difficulty. 3 Abdominal distention occurs in almost 100% of the cases and may be marked. But in the present study we observed 14 (73.68%) of cases.…”

“…Other associated anomalies may be present in approximately 16% of HSCR cases. 3 Features can often be demonstrated radiologically but varies, and it is not sensitive enough to exclude HD. However, contrast studies may give an indication of the transition zone level (Figure 1).…”

“…3 These findings may vary, particularly in neonates, as the transition zone may not have developed sufficiently, or in patients with extended aganglionic segments (TCA). 3 The essential diagnostic feature on contrast enema is demonstration of the narrow aganglionic segment with dilatation of the proximal bowel segment, a reversed rectosigmoid ratio, and a demonstrable transitional segment (Figure 1, 2). The ganglionic segment may be irregular, demonstrating a sawtooth mucosal appearance, probably because of mucosal edema and muscular fasciculations.…”