Colectomy Followed by J-Pouch Reconstruction to Correct Total Colonic Aganglionosis

Background: Patients suffering from complete colonic aganglionosis (TCA) require the best surgical care possible. Only a few studies reported J-Pouch repair as the primary reconstructive surgery in TCA patients. This study adds to the current literature a thorough clinical and functional outcomes group. Methods: Between 2011 and 2021, medical records of Hirschsprung disease (HD) patients who underwent J-Pouch reconstruction during infancy (n = 12) were reviewed. In close follow-up, bowel function and satisfaction with operation results were evaluated. The median age at the time of J-Pouch reconstruction was 16 months, and covering ileostomies were closed four months later. There were no postoperative problems. After the final repair, Pouch-related problems (PRP) occurred in 27% of the children and were treated conservatively. There was no histological evidence of pouchitis in any of the individuals. The median 24-h stooling frequency was 4–5 at the latest follow-up 51 months following enterostomy closure. Conclusions: The current study’s findings support the existing literature and advocate for J-pouch repair in TCA patients. However, more research will be needed to determine the best time to undergo pouch surgery and ileostomy closure in TCA patients.

Pitfalls in the histological diagnosis of total colonic aganglionosis on appendicectomy specimens

Background: Hirschsprung’s disease is the most important cause of functional intestinal obstruction in children. It is characterized by the absence of ganglion cells in the submucosal and myenteric plexuses on histology. In 10% of Hirschsprungs disease patients, involvement of the entire colon is seen in a condition called total colonic aganglionosis (TCA). The absence of ganglion cells in the appendix on histology has been considered diagnostic of TCA. The validity of this histological finding being taken as criteria for diagnosis is not clear. Aims and Objectives: This study examines the presence and the number of myenteric and submucosal ganglion cells in the appendices of suspected cases of TCA and compares these findings with controls, specimens of acute appendicitis, and histologically normal appendix in pediatric cases. Materials and Methods: Thirty-six appendix specimens of suspected TCA cases and controls, that is, ten each of acute appendicitis and histologically normal appendix in pediatric age group were included in this study taken up in the pathology department of a tertiary pediatric referral hospital. The presence or absence and the number of ganglion cells in each specimen was semiquantitatively evaluated in a blinded manner. These findings were descriptively compared and analyzed. The difficulties faced by the pathologist in reporting the pediatric appendix specimens were also documented. Results: The cases and controls showed that aganglionosis and no significant difference were noted in the number of ganglion cells per high power field between the cases and controls. The reporting pathologists enumerated quite a few pitfalls and problems encountered by them in the process of interpreting ganglion cell status of pediatric, particularly neonatal appendicectomy specimens. Conclusion: Aganglionosis of the appendix on histology may not be an ideal tool for the diagnosis of TCA. Difficulties in histological characterization of ganglion cells, technical errors in tissue embedding and the presence aganglionic skip areas might cause errors in the interpretation of ganglion cell status of appendix specimens, particularly infants, and neonates.

Colonic Stoma Creation as the First Stage of Surgical Correction of Total Colonic Aganglionosis in Children

The use of a staged approach in surgical treatment of total colonic aganglionosis is controversial. The creation of a protective colonic stoma as the first stage of surgical correction of total colonic aganglionosis rather than one-stage correction has become an alternative in treatment of such patients. This approach contributes to better survival, reduces the incidence of ileoanal anastomotic failure and improves functional outcomes. The objective of the research was to study and evaluate the need for colonic stoma creation as the first stage of surgical correction of total colonic aganglionosis in children. Materials and Methods. The analysis of surgical treatment of 41 children with total colonic aganglionosis over the period 1980-2020 was conducted. Protective colonic stoma was created in all the patients, namely 36 children with isolated colonic aganglionosis and 5 children with the involvement of the entire colon and a segment of the small bowel. Results. Twenty-four (58.54%) patients were diagnosed and underwent the first stage of treatment in National Specialized Children’s Hospital “Okhmatdyt”. There were 17 (41.46%) patients who were transferred from other clinics after being diagnosed with a pathology and undergoing colonic stoma creation. During staged treatment of children with total colonic aganglionosis, a single-barrel ileostomy (n=10, 24.40%), a double-barrel ileostomy (n=5, 12.19%), or a loop colonic ileostomy (n=26, 63.41%) were created. The periods between creating the protective colonic stoma and performing radical surgery ranged from 4 to 14 months. The colonic stomas were closed 2-4 months after radical surgery. The third stage of surgical correction of total colonic aganglionosis in children was carried out after the state of the neorectum formed and ileoanal anastomosis were assessed for readiness of inclusion in the passage. There were no complications after protective stoma closure. Within the first 3 months, the frequency of bowel movement ranged from 10 to 15 times a day, and, in a year, it was 2-4 times a day. All the children survived. Functional outcomes of treatment were found to be good. Bowel function was satisfactory. The X-ray images demonstrated the rectal reservoir of sufficient size with pronounced colonization. Conclusions. Surgical correction of total colonic aganglionosis in children involves the three-stage approach consisting in the creation of the protective small bowel stoma (the first stage), radical surgery, namely colectomy with reconstructive plastic formation of functionally advantageous reservoir version of the neorectum (the second stage) and ileostomy closure after adaptation of the small bowel reservoir (the third stage). The creation of the protective small bowel stoma as the first stage of surgical correction of total colonic aganglionosis in children is emergency surgery. The creation of the loop small bowel stoma at 12 cm above aganglionosis level is the most rational type of the first stage of correcting total colonic aganglionosis in children.

A novel RET gene mutation in a neonate with total colonic aganglionosis and renal agenesis: a case report

Objective: To find the MUAC cut-off for detection of severe acute malnutrition in infants between 1to 6 months of age. Material and Methods: A prospective observational study at IPD and OPD of atertiary care hospital. 303 infants between one and six months of age above the length of 45cmswere included in the study. In infants between one and six months of age, the length, weight, andMUAC were measured. SAM infants were identified using the WHO definition. Sensitivity, specificity,and Youden index for a particular MUAC was calculated in SAM infants. Results: 11cms was found tohave a sensitivity of 85.1% and specificity of 65.9%. It had the maximum Youden index of 0.55 witha positive likelihood ratio of 2.79 and a negative likelihood ratio of 0.21. Conclusions: MUAC of11cms can be used as a cut-off for SAM infants between 1 to 6 months of age. MUAC does not varywith gender. Weight and MUAC are significantly lower in SAM infants. But there is no difference whenit comes to length as in acute malnutrition, the weight and MUAC are affected but length is not.

Redo pull-through in total colonic aganglionosis due to residual aganglionosis: a single center’s experience

Background Reoperation for total colonic aganglionosis (TCA) may be required for residual aganglionosis after an initial radical operation. We aimed to investigate the symptoms, management, and outcomes of patients who required a redo pull-through (Redo PT). Methods Nine TCA patients underwent Redo PT at our center between 2007 and 2017. Their medical records were reviewed. Parental telephone interviews that included disease-specific clinical outcomes were conducted, and post-operative complications and long-term outcomes (including height-for-age/weight-for-age and bowel-function score) were compared to those of single-pull-through (Single PT) patients (n = 21). Results All the nine Redo PT patients suffered obstruction within 1 month after the initial operation that could not be alleviated by conservative treatment. All abdominal X-ray/contrast barium enemas showed proximal bowel dilatation, indicating residual aganglionosis. The median ages at the initial operation and Redo PT were 200 and 509 days, respectively. Reoperation consisted of an intraoperative frozen biopsy and a modified laparotomic Soave procedure in all patients. Post-operative complications included perianal excoriation (n = 3), intestinal obstruction (n = 2), enterocolitis (n = 2), and rectovestibular fistula (n = 1). Seven Redo PT patients were followed up for a mean time of 7.1 ± 2.3 years; six (85.7%) had good growth and four (57.1%) had good bowel-function recovery. Post-operative complications and long-term outcomes were almost equal between the Redo PT and Single PT groups (all P > 0.05). Conclusion TCA patients with recurrent obstructive symptoms and dilated proximal bowel may have residual aganglionosis after an initial operation. Redo PT is effective and provides good long-term outcomes comparable to those of patients who benefited from Single PT.

Barium enema findings in total colonic aganglionosis: a single-center, retrospective study

Background Preoperative diagnosis of total colonic aganglionosis is important for the rational choice of treatment. The present study aimed to evaluate the diagnostic performance of radiographic signs on preoperative barium enema in patients with total colonic aganglionosis. Methods Forty-four patients [41 (3-659) days] with total colonic aganglionosis, including 17 neonatal patients, who received preoperative barium enema at Beijing Children’s Hospital, from January 2007 to December 2019 were included. All radiographs were retrospectively restudied by 2 pediatric radiologists to ascertain radiographic signs including rectosigmoid index, transition zone, irregular contraction, gas-filled small bowel, microcolon, question-mark-shaped colon and ileocecal valve reflux. Kappa test was performed to assess the accuracy and consistency of the radiographic signs. Results The 2 radiologists showed slight agreement for gas-filled small bowel, microcolon and rectosigmoid index, fair agreement for transition zone and irregular contraction, and moderate agreement for question-mark-shaped colon and ileocecal valve reflux (Kappa values, 0.043, 0.075, 0.103, 0.244, 0.397, 0.458 and 0.545, respectively). In neonatal patients, the 2 radiologists showed moderate agreement for ileocecal valve reflux and substantial agreement for question-mark-shaped colon (Kappa values, 0.469 and 0.667, respectively). In non-neonatal patients, the 2 radiologists showed substantial agreement for ileocecal valve reflux (Kappa value, 0.628). In 36 patients with total colonic aganglionosis extending to the ileum, the accuracies of question-mark-shaped colon, ileocecal valve reflux and the combination of both were 47%, 53%, and 75%, respectively, in one radiologist and 53%, 50% and 72%, respectively, in the other radiologist. Conclusions Ileocecal valve reflux is a relatively reliable radiographic sign for diagnosing total colonic aganglionosis and could improve the diagnostic accuracy upon combination with question-mark-shaped colon.

CASE REPORT: RARE FORM OF HIRSCHPRUNG’S DISEASE

Hirschsprung disease (HD) is a developmental disorder characterized by the absence of ganglia in the distal colon, resulting in a functional obstruction. Incidence of total colonic aganglionosis (TCA) is 1 in 500 000 and it accounts for 5-10% of all cases of HD. HD should be suspected in patients with typical clinical symptoms and a high index of suspicion is appropriate for infants with a predisposing condition such as Down Syndrome (DS), or for those with a family history of HD. The treatment of choice for HD is surgical, such as Swenson, Soave, and Duhamel procedures. The goals are to resect the affected segment of the colon, bring the normal ganglionic bowel down close to the anus, and preserve internal anal sphincter function. We present a clinical case report of TCA in a child with Down syndrome (DS) and review of literature.