Ultrashort-segment Hirschsprung disease in a 4-year-old female

Hirschsprung disease (HSCR) is characterized by the absence of neuronal ganglion cells in a distal portion of the intestinal tract [1]. In 1691, Frederick Ruysch described the disease as congenital megacolon. HSCR-associated congenital anomalies have been reported in 5–32% of affected patients [2]. The clinical symptoms of HSCR are usually evident in the neonatal period. However, in some cases where the extent of the aganglionic segment is short, symptoms may become clinically relevant later in childhood [3]. HSCR is one of the most difficult diseases to identify in pediatric surgery due to its multiple clinical, histological and radiological variations [2, 3]. The goal of surgical management is to remove the aganglionic segment and reconstruct the intestinal tract through techniques such as Swenson, Duhamel and Soave [4]. The following case consists of a 4-year-old patient with a chronic presentation of constipation secondary to ultrashort-segment Hirschsprung disease.

Hirschsprung's disease: case report

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

Congenital megacolon

Hirschsprung's disease is characterized by colonic aganglionosis, affecting mainly newborns. The current treatment of this pathology is surgical, but several studies are underway to develop less invasive methods that could cause less comorbidities. These studies use congenital megacolon models, one of which uses benzalkonium chloride to cause neurogenic ablation. The objective of this study is to demonstrate the effectiveness of aganglionosis provided by this drug by describing the remaining cells after denervation in order to optimize studies that use this model later.

LAPAROSCOPIC INTERVENTION IN HIRSCHSPRUNG DISEASE - MARTIN DUHAMEL METHOD

Hirschsprung's disease or congenital megacolon is a developmental disorder characterized by the absence of nerve cells in the myenteric plexus in the distal colon. The specific symptoms are caused by the absence of the peristaltic movement in the affected segment. 75% of cases involve the recto-sigmoid region, and 60% of children affected have other associated congenital diseases (ophthalmological, urogenital, cardiac or central nervous system anomalies).We are presenting the case of a newborn delivered at term who develops symptoms represented by: abdominal distension, delay in the pass of meconium, food intolerance and vomiting all indicating the clinical picture of low intestinal obstruction. Following clinical examination, abdominal radiographs, contrast enema, serial biopsies of rectal and colonic wall as well as anorectal manometry the diagnosis of congenital megacolon - Hirschsprung disease is placed. The article includes a detailed description of the surgical technique used in this case: Duhamel-Martin Laparoscopic assisted method. Evolution is favorable, with no early or long term complications. The laparoscopic assisted Duhamel technique is among the first therapeutic options when it comes to addressing a newborn with Hirschsprung's disease, a technique not commonly used but with very good prognosis in the presented case.