Hirschsprung Disease with Prenatal Signs: Case Report and Review of the Literature.

Introduction

Hirschsprung's disease (HD) is diagnosed postnatally, mainly by means of a rectal biopsy. During pregnancy a few signs have been scattered reported that, in retrospect, where suggestive for HD. The aim of the study was to provide a review of the literature on prenatal signs, with a new case.

Methods

A systematic and manual search of the literature using the keywords "prenatal diagnosis, meconium peritonitis, Hirschsprung disease" was conducted on PUBMED, Scopus, and SCIE (Web of Science).

Results

Following the PRISMA guidelines, 8 articles were retrieved that describe a total of 11 cases of prenatal signs suggestive of HD. The case of a fetus with meconium peritonitis and hereditary trigonocephaly is reported.

Conclusion

The literature is very scanty on prenatal signs or symptoms suggestive for HD. The association of HD and craniostenosis has been previously reported, but the present case is unique due to the concurrent presence of meconium peritonitis and hereditary trigonocephaly.