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Hirschsprung Disease with Prenatal Signs: Case Report and Review of the Literature
C Marchetto1,2, G Bracalente1, P Midrio1,2
1Pediatric Surgery, Cà Foncello Hospital, Treviso, Italy.
Insights
Prenatal diagnosis of Hirschsprung disease (HD) is rare. This review highlights scarce literature on prenatal signs and presents a unique case of HD with meconium peritonitis and hereditary trigonocephaly.
Area of Science:
- Medical Genetics
- Pediatric Surgery
- Fetal Medicine
Background:
- Hirschsprung disease (HD) is typically diagnosed postnatally via rectal biopsy.
- Limited evidence suggests some prenatal signs may indicate HD.
- Identifying prenatal indicators could improve early detection and management.
Purpose of the Study:
- To review existing literature on prenatal signs suggestive of Hirschsprung disease.
- To report a novel case of a fetus with meconium peritonitis and hereditary trigonocephaly, potentially linked to HD.
Main Methods:
- Systematic literature search using keywords: "prenatal diagnosis, meconium peritonitis, Hirschsprung disease".
- Databases searched: PUBMED, Scopus, and SCIE (Web of Science).
- PRISMA guidelines followed for article retrieval and analysis.
Main Results:
- Eight articles were identified, describing 11 cases with prenatal signs suggestive of HD.
- A case report details a fetus presenting with meconium peritonitis and hereditary trigonocephaly.
- The literature on prenatal HD indicators is notably sparse.
Conclusions:
- Prenatal diagnosis of Hirschsprung disease remains challenging due to limited suggestive signs.
- The reported case is unique, combining meconium peritonitis and hereditary trigonocephaly with potential HD association.
- Further research is needed to establish reliable prenatal markers for Hirschsprung disease.
Abstract:
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.
