Delayed diagnosis of hirschsprungs disease after esophageal atresia repair (original) (raw)
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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.
Long-term results of bowel function after treatment for Hirschsprung’s disease: a 29-year review
Pediatric Surgery International, 2006
Although various surgical procedures have been described to treat Hirschsprung's disease (HD), few studies have evaluated the long-term results of these children. The purpose of this study was to assess the long-term clinical outcome and bowel function of patients with HD. The hospital records of 259 consecutive patients with a confirmed histological diagnosis of HD during 1975-2003 were examined. Data was assessed for age at presentation, sex, clinical presentation, associated anomalies, level of aganglionosis, surgical procedures, complications and bowel function. Follow up was carried out by personal/telephone interviews with patients or their parents. Of the 259 patients with HD, 200 were males (77.2%) and 59 females (22.8%). Intestinal obstruction was the presenting feature in 147 patients (56.8%), intestinal perforation in 5 (1.9%), enterocolitis in 30 (11.6%) and constipation in 77 (29.7%). Thirty-nine patients (15.1%) had associated Down's syndrome. Two hundred and nine patients (80.7%) had rectosigmoid disease, 31 (12%) had long segment disease and 19 (7.3%) had total colonic aganglionosis. Forty-three patients (16.6%) had preoperative enterocolitis. Primary colostomy was performed in 160 patients and a primary pull through in 90. Seven patients had a sphincteromyectomy for ultrashort HD. Two patients died prior to treatment. Various pull through procedures were performed in these patients. Postoperative complications included: pelvic abcess in 2, rectal stricture in 10, perianal excoriation in 7, anastomotic leak in 8, intestinal obstruction in 3, wound dehiscence in 1, stomal prolapse/stenosis in 5, rectovesical fistula in 2 and enterocolitis in 56. Five patients underwent a redo pull through and 46 required a post pull through sphincterectomy. At the time of follow-up, 27 were lost to follow-up, 9 died, 18 had permanent stomas and 4 were too young to assess bowel function. Of the remaining 194 patients, bowel function was normal in 132 (68%). Twenty patients (10.3%) had soiling and 42 (21.7%) had constipation requiring laxatives or enemas. There was no difference in bowel function in relation to type of pull through operation. Only 34% of patients with Down's syndrome had normal continence. The majority of patients with HD continue to have disturbances of bowel function for many years before attaining normal continence.
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.
Persistence of Abnormal Gastrointestinal Motility After Operation for Hirschsprung's Disease
American Journal of Gastroenterology, 2000
OBJECTIVE: Recent studies in patients with Hirschsprung's disease (HD) suggest that morphological abnormalities of the intramural intestinal plexuses are not restricted to the colon. In this report, symptoms and objective tests of gastrointestinal (GI) motor dysfunction were determined long after operative treatment to see whether evidence of a more widespread and relevant motility disturbance could be detected. METHODS: Twenty-one children were available for study an average of 6.6 yr after surgery for HD. All of these patients underwent evaluation of bowel frequency per week, total GI transit time (TGTT), and a scintigraphic gastric emptying test using solid food; anorectal manometry and segmental colonic transit times were performed in a subset of patients. Results were compared with findings in appropriately matched controls. RESULTS: Frequency of defecation per week in patients with HD after surgery was not different from that in control children, but TGTT was significantly longer (p Ͻ 0.01). Percentage retention of gastric isotope at 60 min exceeded the normal range in 12 of 21 (57.1%) patients, and colonic transit was abnormal in all six children studied. Symptoms persisted in two-thirds of patients postoperatively, and transit abnormalities were more common in the symptomatic subset (p ϭ 0.026). CONCLUSIONS: Our data show that, in a subset of patients with HD, GI motor dysfunction persists long after surgical correction. The heterogeny of basic defects responsible for HD could provide the substrate for these motor abnormalities that, in turn, seem at least partially responsible for continuation of the symptomatic state.
Imaging of total colonic Hirschsprung disease
Pediatric Radiology, 2008
Background Hirschsprung disease (HD) is a functional obstruction of the bowel caused by the absence of intrinsic enteric ganglion cells. The diagnosis of total colonic HD (TCHD) based on contrast enemas is difficult in newborns because radiological findings vary. Objective To evaluate the radiographic and contrast enema findings in patients with pathologically proven TCHD. Materials and methods From 1966 to 2007, 17 records from a total of 31 patients with TCHD were retrospectively evaluated for diameter and shape of the colon, diameter of the small bowel, bowel wall contour, ileal reflux, abdominal calcifications, pneumoperitoneum, filling defects, transitional zones and rectosigmoid index. Results Three colonic patterns of TCHD were found: microcolon, question-mark-shape colon and normal caliber colon. Additional findings included spasmodic colon, ileal reflux, delayed evacuation and abdominal calcifications. Colonic transitional zones were found in eight patients with TCHD. Conclusion The diagnosis of TCHD is difficult to establish by contrast enema studies. The length of the aganglionic small bowel and the age of the patient can influence the radiological findings in TCHD. The transitional zone and the rectosigmoid index can be false-positive in TCHD. The colon can appear normal. Consider TCHD if the contrast enema study is normal but the patient remains symptomatic and other causes of distal bowel obstruction have been excluded.
Annals of Pediatric Surgery, 2018
Object The objective of this study were to highlight the finding of vasa recta (tortuous) on the colonic wall as a diagnostic clue for suspecting an associated Hirschsprung's disease (HD) and to draw attention to the importance of preserving the aganglionic rectum plus a retrorectal pull through in these cases. Background The association of HD with anorectal malformation (ARM) is both diagnostically and surgically challenging. Patients and methods Records of cases with ARM treated over 15 years were examined. Among these, five children with an associated HD were analyzed with regard to their clinical, radiological, surgical, histopathological findings, and outcome. Relevant literature was also reviewed. Results HD was present in 1.26% cases of ARM. All were men with high-type ARM. Two groups were identified. In group 1 (two patients), associated HD was suspected after completion of all stages of ARM repair. They reported prolonged postoperative constipation, abdominal distention, and enterocolitis. Moreover, they endured additional surgeries for HD. In group 2 (three patients), HD was suspected at the time of initial colostomy for ARM in two patients on visualizing tortuous (cork screw) vasa recta on the sigmoid colon surface in a region similar to the transition zone in HD. Biopsy from the site confirmed HD. In the third patient, these vessels were visualized on the colostomy loop at the time of laparoscopic pull through for ARM. Preservation of the aganglionic rectum (to function as a fecal reservoir) as well as a retrorectal pull through was done in both groups. Conclusion Finding prominent corkscrew vessels on the colonic surface could serve as a clinical clue for the presence of HD in cases of ARM. Moreover, preserving the aganglionic rectum and performing a Duhamel pull through helps provide acceptable continence.
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.
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.
Duodenal atresia and Hirschsprung disease in a patient with Down syndrome: A rare association
European journal of general medicine, 2011
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.