Introduction: Hirschsprung's Disease (DH), also known as Congenital Megacolon, has been described as a
congenital disorder in Newborns (NB) with severe constipation associated with dilatation and hypertrophy
of the colon. To elucidate the diagnosis, it is necessary to perform complementary tests, but the gold
standard is rectal biopsy. The treatment is always surgical, aiming at the removal of the aganglionic part and
the 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 surgical
intervention.
Case report: A 29 days of life male patient comes with a complaint that he has been evacuating in small
quantities since birth, with feces that look yellowish, pasty and with a characteristic odor, intercalating with
periods of constipation. Mother reports that the RN remained for up to a week without evacuating from
birth. With the DH hypothesis, an x-ray of the abdomen, an opaque enema, and a rectal biopsy were
performed confirming the hypothesis. We opted for surgical treatment where initially a colostomy was
performed 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 absence
of ganglion cells, and 80 to 90% of the cases are diagnosed in the neonatal period. The delay between the
onset of clinical manifestations and the investigation of the disease increases the risk of complications, with
more 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 better
understanding of the clinical picture of HD, as well as its complications and the importance of performing
the diagnosis early
A rare case of perineal hamartoma associated with cryptorchidism and imperforate anus: case report
