Background: Total colonic aganglionosis, as a rare variant of Hirschsprung Disease, still poses challenges to surgeons in terms of diagnosis and management. The optimal preparation for pullthrough is crucial for reconstructive surgery. This study aims to explore our surgical pathway for children with total colonic aganglionosis (TCA) and to describe the prehabilitation necessary to prepare for successful reconstructive pullthrough surgery. Methods: A prospective review of children with TCA receiving an abdominal surgical intervention between 1/22 and 4/24. The cohort included children receiving mapping +/- primary ileoanal pullthrough. An analysis of preoperative, perioperative, and postoperative data, and a short-term follow-up were performed. Results: A total of 18 children with TCA and no prior pullthrough received an abdominal intervention during the 29-month study period, and 5/18 (27.8%) were female. The children had a median of 4 (range 2-7) prior external surgeries; all had a stoma; 6 (33%) children received parental nutrition; 12 children underwent a mapping of the ganglia distribution and bowel length at a median age of 11 months (range 3-54), and in 10 of them, we relocated the stoma. There was a mean involvement of 15 (5-93) cm small bowel aganglionosis, with the remaining mean ganglionic small bowel having a length of 178 cm (110-254). A total of 11 children underwent straight primary ileoanal pullthrough of the stoma site at a median age of 16.7 months (10-133). Conclusions: The timely diagnosis of TCA still challenges the care team, and most children have a rough journey involving several surgeries until their diagnosis is established. The ensure bowel function with an adequate working stoma is the key to enabling enteral nutrition and growth, which are the baseline requirements to undertake a successful pullthrough procedure and restore continuity. Careful perioperative bowel management and parents\' active involvement supports children with Hirschsprung Disease achieving the best possible quality of life.

Total colonic aganglionosis, also called total colonic Hirschsprung\'s disease, is a known congenital disorder caused by the migration of abnormal embryonic neuroblasts. RET, NRG1, and L1CAM genes are reported as pathological gene variants associated with the incidence of different variants of Hirschsprung\'s disease. Major clinical presentations are well documented as inefficiency to pass stools, vomiting, fever, persistent crying, and other features of intestinal obstruction. We present here the case of a two-day-old female infant of Indian origin and its diagnostic, clinical, and case management data.

BACKGROUND: Inflammatory Bowel Diseases (IBD) are known to occur in association with Hirschsprung disease (HSCR). Most of cases are represented by Crohn Disease (CD) occurring in patients with Total Colonic Aganglionosis (TCSA) with an estimated prevalence of around 2%. Based on these considerations and on a number of provisional data belonging to our Center for Digestive Diseases, we developed a unicentric cross-sectional observational study aimed at describing phenotype, genotype, pathology and metagenomics of all patients with TCSA and Crohn-like lesions.
RESULTS: Out of a series of 62 eligible TCSA patients, 48 fulfilled inclusion criteria and were enrolled in the study. Ten patients did not complete the study due to non-compliance or withdrawal of consent and were subsequently dropped out. A total of 38 patients completed the study. All patients were tested for chronic intestinal inflammation by a combination of fecal calprotectine (FC) or occult fecal blood (OFB) and underwent fecal metagenomics. Nineteen (50%) tested positive for FC, OFB, or both and subsequently underwent retrograde ileoscopy. Fourteen patients (36.8%) presented Crohn-like lesions, occurring after a median of 11.5 years after surgery (range 8 months - 21.5 years). No statistically significant differences regarding demographic, phenotype and genotype were observed comparing patients with and without lesions, except for need for blood transfusion that was more frequent in those with lesions. Faecal microbiome of patients with lesions (not that of caregivers) was less biodiverse and characterized by a reduction of Bacteroidetes, and an overabundance of Proteobacteria. FC tested negative in 3/14 patients with lesions (21%).
CONCLUSIONS: Our study demonstrated an impressive 10-folds higher incidence of chronic inflammation in TCSA. Up to 50% of patients may develop IBD-like lesions postoperatively. Nonetheless, we failed in identifying specific risk factors to be used to implement prevention strategies. Based on the results of our study, we suggest screening all TCSA patients with retrograde ileoscopy regardless of FC/OFB values. The frequency of endoscopic assessments and the role of FC/OFB screening in prompting endoscopy is yet to be determined.

After an initial pull-though, patients with Hirschsprung disease (HD) can present with obstructive symptoms, Hirschsprung-associated enterocolitis (HAEC), failure to thrive, or fecal soiling. This current review focuses on algorithms for evaluation and treatment in children with HD as a part of a manuscript series on updates in bowel management. In constipated patients, anatomic causes of obstruction should be excluded. Once anatomy is confirmed to be normal, laxatives, fiber, osmotic laxatives, or mechanical management can be utilized. Botulinum toxin injections are performed in all patients with HD before age five because of the nonrelaxing sphincters that they learn to overcome with increased age. Children with a patulous anus due to iatrogenic damage of the anal sphincters are offered sphincter reconstruction. Hypermotility is managed with antidiarrheals and small-volume enemas. Family education is crucial for the early detection of HAEC and for performing at-home rectal irrigations.

UNASSIGNED: We present the surgical technique and outcomes of reduced-port laparoscopic restorative proctocolectomy with ileal-J-pouch anal canal anastomosis (IPACA) without diverting ileostomy for total colonic and extensive aganglionosis (TCA+).
UNASSIGNED: We retrospectively reviewed TCA+ cases between 2014 and 2022. Preoperative ileostomy was performed when transanal bowel irrigation was ineffective. Radical surgery for TCA+ was performed at approximately 6 kg. The surgery was performed using laparoscopy through a multi-channel trocar with or without an additional 3-mm trocar and IPACA reconstruction with indocyanine green fluorescence angiography (ICG) to assess anastomotic perfusion and Lugol\'s iodine staining to visualize the surgical anal canal.
UNASSIGNED: Ten patients with TCA+ were included. Ileostomy was performed in seven cases. The median operation time and blood loss were 274.5 min and 20 ml, respectively. No significant postoperative complications were found. All patients experienced frequent liquid stools and perianal excoriation in the early postoperative period, requiring anti-flatulence or codeine. The median follow-up period was 3.5 years. Three patients required irrigation management 1 year postoperatively, and the others defecated a median of 3.5 times per day. The median Kelly\'s clinical score was 5 in 5 patients aged >4 years.
UNASSIGNED: Reduced-port surgery, combined with Lugol\'s iodine staining and ICG, was safe, feasible, and had cosmetically and clinically acceptable mid-term outcomes.

OBJECTIVE: To assess mid-/long-term quality of life (QOL) of total colonic aganglionosis (TCA) patients.
METHODS: Modified pre-existing QOL assessment tools for general lifestyle (GL), bowel function (BF), and mental health (MH) were administered to postoperative TCA patients from five institutions, who were at least 7 years old to compare Duhamel (with pouch) and Swenson/Soave (without pouch) techniques between children (Ch 7-12 years old), teenagers (Tn 13-19), and adults (Ad 20 and over). For MH, caregivers were also interviewed, but separately. Maximum scores were 12 for GL/MH and 18 for BF.
RESULTS: There were 32 subjects. GL and BF scores increased significantly from Ch (GL 4.8 ± 2.5, BF: 11.3 ± 4.6) to Tn (GL 7.8 ± 2.6, BF 16.2 ± 3.0); scores for MH did not change significantly. Mean caregiver MH scores were significantly lower than mean subject MH scores for all age groups (subject scores: 10.1, 10.7, 10.7 versus caregiver scores: 6.8, 7.8, 8.1 for Ch, Tn, Ad, respectively). PT technique/presence of a pouch did not influence the incidence of enterocolitis or QOL scores.
CONCLUSIONS: MH responses showed subjects felt better than caregivers believed. This discrepancy could cause conflict despite steadily improving GL/BF. QOL was unaffected by PT technique/presence of a pouch.

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).
CONCLUSIONS: 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.

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.
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.
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.
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.

The aim of this study was to report the contemporary management of Hirschsprung disease (HD) in New Zealand.
We undertook a national multi-centre retrospective review of all newly diagnosed cases of HD during a 16-year period (2000-2015). Demographics, genetic and syndromic associations, family history, radiology and histology results and surgical interventions were analysed.
A total of 246 cases (males:females 4:1) were identified, an incidence of 1:3870 live births. Short-segment disease was present in 81.7%, long-segment disease in 8.5%, total colonic aganglionosis in 6.5% and unknown in 3.3%. HD was diagnosed by 4 weeks\' corrected gestational age in 67%. Thirty cases (12%) also had Trisomy 21. Fifty-three (21.5%) patients required a repeat rectal biopsy for definitive diagnosis. A contrast enema was performed in 55% and identified the transition zone with 69% accuracy. Primary pull-through surgery was undertaken in 59% (65% of short-segment cases) at a median age of 27 days; others were initially managed by a defunctioning stoma. The commonest definitive procedure was a Soave-Boley endorectal pull-through (79%) (or similar variant). During a median follow-up of 7.4 years, six (2.5%) survivors underwent a redo pull-through, 13 (5.5%) an appendicostomy, 16 (6.8%) a defunctioning stoma and 10 never had a definitive procedure. Total colonic aganglionosis was significantly more likely to be fatal (12.5% versus 0.5%, P < 0.0005) or associated with a permanent end stoma (27.5% versus 4.5%, P < 0.0005).
Most New Zealand born infants with short-segment HD are currently managed by primary pull-through, usually in the first months of life.

OBJECTIVE: To establish the cogency of recommendations for the appropriate age for pull-through and ileostomy closure in Total Colonic Aganglionosis-Hirschsprung Disease\'s (TCA-HD).
METHODS: Medline, PubMed, Cochrane, and the ClinicalKey databases were searched without date restriction. The studies that reported TCA-HD cases were evaluated for the number of cases, age at the definitive procedure, age at the ileostomy closure, reported complications, and the type of procedure. Perianal excoriation and diaper rash rates were analyzed using SPSS software, with p < 0.05 considered significant.
RESULTS: Twenty-five studies mentioned TCA-HD findings between 1968 and 2019. The total number of patients who had definitive surgery was 218. Analysis showed no correlation between development of diaper rash and the age of the patient at the time of the definitive surgery or ileostomy closure. Studies scored between six and nine of nine possible stars on the NOS scoring system.
CONCLUSIONS: There is no correlation between age of surgery and postoperative diaper rash. Delaying the definitive procedure or ileostomy closure for TCA-HD has limited support on a review of current studies. The perianal excoriation/diaper rash is not reported in the literature at a high enough frequency to warrant keeping a diverting ileostomy until toilet trained of urine.
METHODS: Systematic review and meta-analysis. Levels of evidence IV.