Duodenal atresia and Hirschsprung disease in a patient with Down syndrome: A rare association (original) (raw)
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Duodenal Atresia and Hirschsprung Disease in a Patient with Down Syndrome
Electronic Journal of General Medicine
A two days-old newborn female patient with Down Syndrome was admitted to our hospital with complaint of vomiting. Physical examination was unremarkable except for the typical physical appearance of Down Syndrome. An abdominal radiography showed the double-bubble sign, characteristic for duodenal obstruction, and the patient was operated with prediagnosis of duodenal atresia. However, during the operation, Hirschsprung's disease was suspected and the diagnosis was confirmed by rectal biopsy. In this study, we described the case of duodenal atresia together with Hirschsprung's disease in a patient with Down Syndrome. Radiologists and pediatric surgeons should consider this issue for a correct diagnosis and treatment.
Colonic atresia and hirschsprung disease: a case report and review of the literature
Journal of Medical Case Reports, 2023
Background Colon atresia is one of the rarest congenital anomalies of the gastrointestinal tract, with an incident range of between 1 in 10,000 and 66,000 live births. Type I colonic atresia affects only the mucosal layer of the intestine and spares the intestinal wall and mesentery. Hirschsprung Disease is a rare association of Colon atresia and is usually diagnosed as a complication of atresia treatment. Case presentation This study reports a 14-h term white middle-eastern female infant with type I transverse colonic atresia complicated by the association of Hirschsprung disease and provides a brief literature review of the topic. She presented with poor feeding, weakness, and failure to pass meconium, and her abdominal X-ray showed complete distal bowel obstruction. The presence of Hirschsprung disease was realized after complications of atresia surgery. The infant underwent a total of three surgeries involving an end-to-end anastomosis of the atresia, colostomy formation following anastomosis leakage, and Hirschsprung surgery. The patient ultimately expired. Conclusions The association between colonic atresia and Hirschsprung disease poses a diagnostic and therapeutic challenge. Considering Hirschsprung disease as a possible association in colon atresia patients can facilitate proper decision-making in the course of treating colon atresia cases and achieving better outcomes.
Pediatric Surgery International, 2006
Colonic atresia (CA) is an infrequent cause of lower gastrointestinal obstruction in the neonate. Coexistence with aganglionosis of the colon (Hirschsprung's disease) has been reported but is generally not recognized in the neonatal period. We report another case and present a review of the literature. A boy with a lower gastrointestinal obstruction, caused by a CA type III, had creation of a proximal colostomy and a distal mucous fistula on the 1st day of life. In the preoperative work-up before restoring the continuity, rectal suction biopsies revealed the presence of Hirschsprung's disease. When the boy was 6 months old, a distal colectomy and reanastomosis were done. Creation of a colostomy and reanastomosis in a second procedure is recommended for treating a type III CA unless distal aganglionosis has been ruled out.
Intestinal atresia and Hirschsprung's disease
Pediatric Surgery International, 1990
Intestinal atresia associated with Hirschsprung's disease has been reported in only 26 cases (20 of small bowel and 6 of colon). Three additional patients are reported, two with associated myelomeningocoele. The significance of the myelomeningocoele and possible aetiological mechanisms of these associations are discussed with particular reference to the role of a vascular accident or the embryological failure of migration of nerve cells. The most likely cause is a volvulus proximal to the aganglionic bowel resulting in the associated atresia.
Journal of Pediatric Surgery, 2007
Hirschsprung's disease (HD) in Down's syndrome (DS) patients is stated to have a worse outcome than HD alone. In our study we reviewed the immediate and long-term outcomes of these children and questioned whether DS should influence the operative management. Data were collected on all children with HD (including total colonic aganglionosis), between January 1990 and December 2000. They were divided into two groups based on the presence or absence of Trisomy 21 and compared retrospectively. In this time period we treated 173 children with HD; 17 of these had DS. Both the groups were comparable in their mean gestational age, birth weight and presentation except that the DS group had a significantly higher overall incidence of pre and/or postoperative enterocolitis. A tota1 of 164 children underwent a Swenson pull-through and 9 had a Soave's procedure. Follow-up ranged from 1 to 10 years. Continence assessed using the Wingspread scoring system in children over the age of 4 years showed no significant difference. Although children with both HD and DS are predisposed to complications and required a more cautious management, long-term outcome in terms of continence was not significantly worse than in HD alone. Thus the coexistence of DS should not influence the decision to offer these children and their parents the choice of definitive repair.
DUODENAL ATRESIA ASSOCIATED WITH ANNULAR PANCREAS IN A PATIENT WITH DOWN SYNDROME: CASE REPORT IN A PUBLIC HOSPITAL IN THE STATE OF GOIÁS (Atena Editora), 2024
Duodenal atresia is a congenital disorder that corresponds to the most common cause of intestinal obstruction in newborns. This relationship is even more present in patients with trisomy 21, who can also suffer from other malformations related to the gastrointestinal tract, such as annular pancreas. Infants who present with duodenal atresia commonly present with abdominal distension, dietary intolerance and vomiting in the first hours of life. The suspected diagnosis can be initiated prenatally with ultrasounds (USG), but confirmation usually occurs in the postnatal period through visualization of the “double bubble” sign on a simple abdominal x-ray. The treatment of this condition is surgical, with duodenoduodenostomy usually being performed to divert intestinal transit and correct the obstruction. This is a case report of duodenal atresia associated with annular pancreas in a patient diagnosed with Down syndrome. The case discussion was based on 12 articles selected from the Pubmed, Scielo, UpToDate and VHL databases. The study is descriptive and analytical, exploring the characteristics observed in the case report and related to the literature description. The report is of a male neonate, born by cesarean section with 35 weeks and 4 days of gestational age due to Doppler flowmetry suggesting zero diastole. During prenatal care, a morphological USG had already been performed, showing a double bubble sign, which is why an oroenteral tube was introduced in the delivery room, with good progression. The newborn (NB) presented typical facial features, with an oblique palpebral fissure, flat face and depressed nasal bridge. On the second day of life he developed bilious vomiting. Imaging tests showed a double bubble sign and genetic evaluation revealed a karyotype of 47 The patient evolved with good acceptance of the oral diet and was discharged after 37 days of life with good weight gain.
Jejunal Atresia with Hirschsprung’s Disease: A Case Report
Journal of Regenerative Medicine & Biology Research, 2021
A rare case of congenital intestinal atresia associated with Hirschsprung disease was reported. A 0-day-old boy who was diagnosed to have intestinal atresia and he underwent intestinal anastomosis. The movement of the intestinal tract was slow after surgery. The abdominal distension is getting stronger. The radiograph and contrast enema revealed the possibility of Hirschsprung disease. The biopsy of rectum also revealed aganglionosis. Transverse colostomy was performed on the 145 th days after surgery of ileal atresia. The radical surgery for laparotomy-assisted trans anal pull-through technique was performed on the 376 th days after first surgery. Discussion was made as to its pathogenesis and timing of surgery.
Ieal Atresia and Total Colonic Hirschsprung Disease in a 36-week Neonate : Case Report
Intestinal atresia and Hirschsprung disease are two common causes of bowel obstruction in neonates, and simultaneous occurrence is rare. This report delineates a 36-week newborn with ileal atresia and total colonic Hirschsprung. A newborn male (gestational week 36; birth weight,2500 gram) was referred to our unit due to failure of meconium Passage during the first 48 hours after birth, abdominal distension, and bilious vomiting. Physical examination revealed a prominent abdomen, decreased bowel sounds, and an empty rectum in digital rectal examination. The abdominopelvic radiograph showed dilated intestinal loops. No gas was observed in the rectum. Intraoperative findings were: Type three Ileal atresia with classic V shape deformity in the mesentery just 10 mm proximal to the ileocecal valve. All parts of the large bowel were unused (microcolon). H&E examination of colonic biopsies revealed the absence of Ganglion cells in all parts of the large bowel.
Pediatric and Developmental Pathology, 2012
Hirschsprung disease (HD) is reported in patients with Down syndrome with a frequency between 2% and 10%. The incidence of HD is 2% in our community-based registry that contains >700 patients with Down syndrome. We reviewed rectal biopsy findings in 32 of these patients who had suction rectal biopsy performed between 1980 and 2009 to investigate the cause of chronic constipation. We confirmed that 15 patients had diagnostic histologic and histochemical features of HD. More challenging were findings in 5 of 17 patients, in whom ganglia coexisted with equivocal acetylcholinesterase reaction patterns and/or hypertrophic submucosal nerves. In this retrospective study, we were able to resolve most of these discrepant findings by demonstrating normal calretinin-positive nerve twigs in the lamina propria and muscularis mucosae. The clinical significance of these unexpected findings in suction rectal biopsy specimens that did not satisfy strict criteria for a tissue diagnosis of HD is un...