Hirschsprung disease clinical features, diagnosis and treatment: literature review

Geistė Tubutytė1

1Vilnius University, Faculty of Medicine, Vilnius, Lithuania


Background. Hirschsprung disease is a common cause of neonatal and infantile colon obstruction, caused by the failed migration of colonic ganglion cells during gestation. Despite emerging new investigative and treatment methods the mortality of this disease remains high. There is a lack of systematic information about diagnostics and managment of Hirschsprung disease.

Aim of the study. To review and summarize the latest information about clinical manifestation, diagnostics and treatment of Hirschsprung disease.

Materials and methods. The search of literature was conducted in the international database PubMed. Keywords such as ,,Hirschsprung disease“, ,,treatment“, ,,diagnosis‘‘ and their combinations were used. 324 articles were ruled out due to their title and abstract non-compliance to our subject. 44 articles published in English language in the period of 1994-2021 were included to this review.

Results. Delayed passage of meconium, abdominal distention and bilious vomiting are the main symptoms of Hirschsprung disease during neonatal period. Suction rectal biopsy as one of the diagnostic instruments is less invasive and can be performed in the outpatient setting compared to the full – thickness biopsy. Available surgical methods include minimally invasive transanal and laparoscopic techniques.

Conclusions. The clinical manifestation of Hirschsprung disease varies between neonatal intestinal obstruction to chronic progressive constipation in older children. Such diagnostic methods as contrast enema and anorectal manometry can be used for patient screening yet for the confirmation of the diagnosis of Hirschsprung disease histological examination of rectal biopsy is required. Surgery at the moment is the only way to treat this disease.

Keywords: Hirschsprung disease, suction rectal biopsy, anorectal manometry.

Full article