A case of Hirschsprung's disease with segmental dilatation of the colon.

BACKGROUND: Segmental dilatation of the colon (SDC) is a rare disease that is characterized by an abrupt segment of dilated colon between regions of normal-sized colon. We herein report a case of SDC associated with Hirschsprung's disease (HD). CASE PRESENTATION: The patient developed abdominal distension soon after birth, and enema examination showed localized intestinal dilatation from the descending colon to the sigmoid colon with significant caliber changes on both the oral and anal sides of the dilated colon. The findings of the rectal mucosal biopsy were consistent with HD. We considered this case to be a combination of HD and SDC and performed laparoscopic-assisted Soave pull-through with resection of the dilated colon when the patient was 7 months old. Resected specimens showed steep caliber changes on the oral and anal sides of the dilated colon. In the pathological examination, no ganglion cells were found in the submucosa on the anal side of the dilated colon. Based on the above findings, we finally made the diagnosis of HD with SDC. CONCLUSION: In HD with a characteristic dilated colon, the possibility of SDC should be considered.

Ectopic gallbladder with congenital biliary dilatation: a pediatric case report.

BACKGROUND: An ectopic gallbladder is a rare anomaly and can result in the misinterpretation of imaging findings and clinical confusion. Knowledge of such anomalies facilitates accurate diagnoses and prompt management. We report a pediatric case of an ectopic gallbladder concomitant with congenital biliary dilatation (CBD). CASE PRESENTATION: A 9-year-old girl was referred to our hospital for elevated liver enzyme levels. Following physical examination and a review of medical imaging findings, she was diagnosed with Todani type IV-A CBD. We could not visualize the gallbladder by abdominal ultrasonography, CT, and MRI scans; therefore, we suspected gallbladder agenesis. A laparoscopic excision of the extrahepatic bile duct was performed to treat the CBD. Neither a gallbladder nor a cystic duct were revealed on the liver undersurface. Therefore, gallbladder agenesis was considered as a diagnosis based on preoperative imaging and intraoperative findings. However, during dissection of the hepatic hilum, a cyst-like structure was found on the ventral side of the common hepatic duct, slightly to the right, and a small additional duct that originated from the cystic structure was found. Upon incision, a small amount of bile was drained from the small duct. Thus, the cystic structure was diagnosed as an ectopic gallbladder with hypoplasia. Following the removal of the ectopic gallbladder, the extrahepatic bile duct was excised. Subsequently, laparoscopic Roux-en-Y hepaticojejunostomy was performed without any complications. Postoperative histopathological evaluations of the resected specimen revealed Rokitansky-Aschoff sinuses in the resected cystic lesion. The pathological investigations confirmed the diagnosis of an ectopic gallbladder. Following an uneventful postoperative course, the patient was discharged on day nine. CONCLUSIONS: To our knowledge, this is the first pediatric case report describing an ectopic gallbladder concomitant with CBD. If the gallbladder cannot be detected in a preoperative imaging examination, it is important to consider the possibility of an ectopic gallbladder.

Identification of Appendicitis Using Ultrasound with the Aid of Machine Learning.

Background: Diagnosing pediatric appendicitis by ultrasonography (US) is difficult because US requires significant training and skill. We evaluated whether artificial intelligence (AI) can augment US. Materials and Methods: Among 70 abdominal ultrasound videos containing 85-347 images each, 50 were used to train the AI neural network. Each video was categorized based on the detection percentage and percent accuracy: most (>50%), partial (10-50%), and none (<10%). Test 1 involved verification of appendix detection by AI using the remaining 20 videos. Test 2 involved the evaluation of the effect of AI utilization on pediatricians. Results: From 50 videos, 6914 images were used to train the AI network. In test 1, 3 pediatric surgeons judged 10 (50.0%), 4 (20.0%), and 6 (30.0%) videos as "most," "partial," and "none," respectively, regarding the detection percentage; 7 (35.0%), 7 (35.0%), and 6 (30.0%) videos were judged, respectively, concerning the percent accuracy. Five (83.3%) of six test videos with a scan area depth of 8 cm were judged as "none" for both detection and accuracy. In test 2, six videos were also judged as "none" for both categories, showing a negative effect on the participants (5 pediatric residents and 5 pediatric intensive-emergency fellows), but the other categories showed little negative effect. Conclusions: Appendicitis in a shallow US scan area can be easily identified with AI support. Even with the detection of a partial appendicitis shadow, AI is still helpful. However, if AI does not detect appendicitis at all, examiners may be negatively affected.

A Comparison of Sexual Function in Male Patients with Anorectal Malformations Between the Conventional and Laparoscopic Approaches.

Aim: To compare the incidence of erectile dysfunction and ejaculatory anomalies in male patients with anorectal malformation (ARM) after treatment with the sacroperineal approach (Group S) or laparoscopically assisted anorectoplasty (LAARP; Group L). Methods: Male patients who underwent repair of high- or intermediate-type ARMs at our center and aged ≥15 years as of November 2020 were enrolled. Patients with intellectual disabilities or chromosomal disorders were excluded. Sacroperineal anorectoplasty has long been routinely performed at our hospital, and LAARP was introduced as a standard procedure in 2000. The medical records of the outpatient clinic were retrospectively reviewed, and questionnaires were sent in November 2020. Data regarding erectile dysfunction, ejaculatory anomalies, and associated anomalies were collected and compared between the two groups. Results: Answers were obtained from 7/22 patients in Group S (32%) and 10/17 patients in Group L (59%). Patient characteristics were similar, but the median age at the time of replying was significantly different (22 [18-29] years in Group S and 19 [15-20] years in Group L, P = .0060). None of the patients had erectile dysfunction, but 3 patients in Group S (43%) and 5 patients in Group L (50%) had ejaculatory failure, with no significant difference between the two groups. Conclusions: The incidence of sexual dysfunction in male patients with ARM might be higher than that in the healthy population. Patients might abscond from their follow-up visits as they age; therefore, providing patients with accurate information on this issue before puberty is essential.

Peliosis Hepatis in a Child with X-Linked Myotubular Myopathy Treated with Living-Donor Liver Transplant: A Case Report.

BACKGROUND: Myotubular myopathy is a rare disease sometimes accompanied by peliosis hepatis, a leading cause of fatal liver hemorrhage. CASE REPORT: We present a case of a 2-year-old boy with myotubular myopathy who developed liver hemorrhage because of peliosis hepatis and was successfully treated with living-donor liver transplant. The patient initially presented with fever, anemia, and liver dysfunction. A computed tomographic scan revealed hemorrhages in the liver, and the patient underwent hepatic artery embolization twice. After the second embolization, multiple peliosis hepatis cavities appeared in the left lobe of the liver that had increased in size. Therefore, the patient underwent ABO-incompatible living-donor liver transplant using a lateral segment graft from his father. The patient developed severe septic shock with an unknown focus on postoperative day 18, which resolved with antibiotic therapy. On postoperative day 62, he was discharged. Fourteen months after undergoing living-donor liver transplant, the patient showed no recurrence of peliosis hepatis. CONCLUSIONS: Although the long-term prognosis of peliosis hepatis due to myotubular myopathy after living-donor liver transplant remains unclear, liver transplant may be a curative treatment for patients with myotubular myopathy who have uncontrollable peliosis hepatis.

Laparoscopically assisted anorectoplasty-Surgical procedures and outcomes: A literature review.

Anorectal malformation includes various types of anomalies. The goal of definitive surgery is achievement of fecal continence. Twenty years have passed since laparoscopically assisted anorectoplasty (LAARP) was reported by Georgeson. Since LAARP is gaining popularity, its long-term outcomes should be evaluated. Presently, there is no evidence regarding the optimal method of ligating and dividing the fistula correctly and creating the pull-through canal accurately. Rectal prolapse and remnant of the original fistula (ROOF) tend to develop more often in LAARP patients than in posterior sagittal anorectoplasty (PSARP) patients; however, robust evidence is not available. Prolapse may be prevented by suture fixation of the rectum to the presacral fascia; however, if prolapse occurs, the indication, timing, and the best method for surgical correction remain unclear. Most patients with ROOF are asymptomatic, and there is controversy regarding the indications for ROOF resection. This article aimed to detail the various modifications of the LAARP procedures reported previously and to describe the surgical outcomes, particularly focusing on rectal prolapse, ROOF, and fecal continence, by reviewing the literature. Functional outcomes after LAARP were almost similar to those noted after PSARP, and we have demonstrated that LAARP is not inferior to PSARP with respect to fecal continence. Although there is controversy regarding the application of LAARP for recto-bulbar cases, we believe that LAARP is still evolving, and we can achieve better outcomes by improving the procedure.

Rectal Prolapse After Laparoscopically Assisted Anorectoplasty for Anorectal Malformations.

Aim: To clarify the characteristics of patients with rectal prolapse after laparoscopically assisted anorectoplasty (LAARP), estimate the causes, and evaluate its impact on postoperative bowel function. Methods: The medical records of patients who underwent LAARP for high- or intermediate-type anorectal malformation between 2000 and 2019 were retrospectively reviewed. Clinical data were compared between patients with (Group P) and without prolapse (normal, Group N). Fecal continence was evaluated using the clinical assessment score for fecal continence developed by the Japanese Study Group of Anorectal Anomalies. For patients who underwent pelvic magnetic resonance imaging (MRI) before LAARP, atrophy, or asymmetry of the anal sphincter and levator ani was evaluated by a radiologist. Results: Of the 49 patients, 29 (59%) had rectal prolapse after LAARP (Group P) and 20 did not (Group N). We found no significant difference in gender, type of malformations, incidence of associated spinal or lumbosacral anomalies, procedure time, and postoperative bowel function at ages 4, 8, 12, and 16 years. However, LAARP was performed significantly earlier in Group N (median [range], 180 [123-498] days) than in Group P (210 [141-570] days). In Group P, 18 patients (62%) developed prolapse before colostomy takedown. Eight of 26 patients who underwent surgical prolapse repair required redo procedures. Twenty-five patients who underwent preoperative pelvic MRI showed no significant relationship between the muscular abnormalities and the incidence of postoperative rectal prolapse. Conclusions: Although recurrence is common, performing LAARP at a younger age might prevent postoperative prolapse development.

Postnatal ultrasonography for evaluation of hernia sac of neonate with congenital diaphragmatic hernia.

Congenital diaphragmatic hernia (CDH) is one of the most common major congenital anomalies. The presence of a hernia sac is associated with additional benefits in terms of improved neonatal survival. Here, we report a case of CDH with a hernia sac detected via postnatal ultrasonography. Our literature search did not find other cases where CDH with hernia sac was found by postnatal ultrasound in neonates. In prenatal imaging, the diagnosis of CDH with a hernia sac is challenging. In our case, the meniscus of the thymus was clearly noted, and smooth convexity between the hernia contents and thymus was detected. Although evaluation of the presence of a hernia sac with postnatal ultrasonography might be difficult, our findings suggest that a hernia sac could be evaluated with postnatal ultrasonography.

Rectovaginal fistula after low anterior resection for rectal cancer healed by nonoperative treatment.

BACKGROUND: Rectovaginal fistula (RVF) is a serious complication after colorectal anastomosis using a double-stapling technique. RVF following this procedure has been considered to be refractory to conservative treatment. CASE PRESENTATION: A 75-year-old woman who underwent laparoscopy-assisted low anterior resection for early rectal cancer developed RVF on the 12th postoperative day. Conservative treatment was chosen and was successful. She was discharged from the hospital after 3 weeks with a normal oral diet. Colonoscopy on the 50th postoperative day showed that the RVF was closed. CONCLUSION: Conservative treatment may be effective for RVF after colorectal anastomosis using a double-stapling technique when there is no evidence of defecation through the vagina.