Hirschsprung's disease: case report

Hirschsprung's Disease (DH), also known as Congenital Megacolon, has been described as acongenital disorder in Newborns (NB) with severe constipation associated with dilatation and hypertrophyof the colon. To elucidate the diagnosis, it is necessary to perform complementary tests, but the goldstandard is rectal biopsy. The treatment is always surgical, aiming at the removal of the aganglionic part andthe restoration of the continuity of the intestine. Thus, we chose to report a case of a 1-year and 10-monthold patient with chronic constipation from birth, who was diagnosed with DH, requiring surgicalintervention.Case report: A 29 days of life male patient comes with a complaint that he has been evacuating in smallquantities since birth, with feces that look yellowish, pasty and with a characteristic odor, intercalating withperiods of constipation. Mother reports that the RN remained for up to a week without evacuating frombirth. With the DH hypothesis, an x-ray of the abdomen, an opaque enema, and a rectal biopsy wereperformed confirming the hypothesis. We opted for surgical treatment where initially a colostomy wasperformed on a loop and then a rectosigmoidectomy with colon retraction.Discussion: HD is a congenital anomaly that affects 1 in 5,000 live births. It is characterized by the absenceof ganglion cells, and 80 to 90% of the cases are diagnosed in the neonatal period. The delay between theonset of clinical manifestations and the investigation of the disease increases the risk of complications, withmore frequent enterocolitis, in addition to increasing the morbimortality of the congenital megacolon.Conclusion: With the present study, we aimed to emphasize the need to alert the pediatrician to a betterunderstanding of the clinical picture of HD, as well as its complications and the importance of performingthe diagnosis early