総排泄腔外反症

PURPOSE: Worldwide, pull through is uncommon in patients with cloacal exstrophy due to heterogeneous outcomes, however it is frequently performed at our center. We characterized this population and their longitudinal outcomes. METHODS: A review of a prospectively maintained database (1981-present) of patients with cloacal exstrophy was conducted, noting demographics, associated anomalies, surgical history, and outcomes at most recent follow up. RESULTS: There were 91 patients with cloacal exstrophy (67 classic, 24 covered). Pull through, offered based on trial of bowel management through the stoma, was performed in 58 patients (63.7%) at median age 2.46 years (IQR 1.44, 5.08). The most frequent reasons to not undergo pull through were failed stoma bowel management (39.4%) and patient/family preference (33.3%). Outcomes, assessed at median 4.84 years post pull through, were reported in 40/58 patients, among which 36 were clean for stool or continent and 4 patients underwent reversal. CONCLUSION: With preservation of colon and incorporation into the gastrointestinal tract at initial operation, followed by successful bowel management through the stoma, a pull through was performed in 63.7% of patients. Candidacy for pull through should be assessed, ideally prior to, or concurrent with, bladder reconstruction.

PURPOSE: One of a key topic for patients with persistent cloaca is determining when and which procedure to perform vaginoplasty. The purpose of the present study was to clarify the treatment outcomes of simultaneous and metachronous anorecto-vaginoplasty, and to define limit for timing of simultaneous surgery. METHODS: The present study was retrospective cohort study reviewed based on the results of a national survey in Japan. A total of 299 patients underwent both vaginoplasty and anorectoplasty were enrolled in the present study. We compared patient characteristics, surgical outcomes, and menstrual related surgical outcomes between the simultaneous (n=237) and metachronous surgery (n=62) groups. RESULTS: The median follow-up term after vaginoplasty of all patients was 144 [77-223] months. The ages at the first redo-vaginoplasty and anorectoplasty were significantly younger in the simultaneous group than in metachronous surgery group (p=< 0.01). The incidence of surgical management for menstrual outflow obstruction showed a lower trend in the simultaneous surgery group (p=0.08). The cutoff surgical timing based on defecation function in the simultaneous surgery group was 18 months (p=< 0.01). CONCLUSIONS: Simultaneous surgery can be comparably feasible to metachronous surgery without increasing the need for redo-vaginoplasty or redo-anorectoplasty.

Background: Abdominal wall defects represent a significant spectrum of congenital anomalies, ranging from the more frequently encountered gastroschisis and omphalocele to the rare and intricate malformations such as limb-body wall complex, Pentalogy of Cantrell, and cloacal exstrophy. Understanding these conditions is crucial for improving patient outcomes. Materials and Methods: We conducted a comprehensive study presenting rare AWDs diagnosed at a tertiary referral center over two years. Our approach involved an in-depth correlation of prenatal ultrasound evaluations with findings from post-expulsion or postnatal external examinations to ensure accuracy. Results: Among the total eight cases of rare AWDs analyzed, we identified two cases of type IV body stalk anomaly, three cases of atypical gastroschisis, and one case each of Pentalogy of Cantrell, bladder exstrophy, and cloacal exstrophy. Each case illustrates the complexities inherent in these disorders. Conclusion: This series emphasizes the wide variety and diagnostic challenges of rare AWDs. A meticulous evaluation of defect location, umbilical cord insertion, and associated anomalies is vital for clear classification and enhanced prenatal counseling. By documenting these cases, we not only elevate our understanding of embryological development but also significantly improve our diagnostic capabilities, ultimately leading to better management strategies and outcomes for affected individuals.

BACKGROUND: The Omphalocele, Exstrophy, Imperforate Anus, and Spinal Defects Complex (OEIS complex) is a rare birth defect with a prevalence of 1 in 200,000-400000 pregnancies and 1 in 82,000-200000 live births. While cases in female monozygotic twins have been reported, the perinatal outcomes of the unaffected co-twin remain insufficiently addressed. CASE PRESENTATION: We report a spontaneously conceived monochorionic monoamniotic twin pregnancy where Twin B was diagnosed with OEIS. Prenatal ultrasound at 12 + 4 weeks identified an abdominal cystic mass in Twin B, which enlarged progressively until 20 + 4 weeks (7.0 × 4.7 × 6.2 cm) and then decreased (3.3 × 2.5 × 2.0 cm) at 22 weeks, suggesting cloacal membrane rupture. Further evaluations confirmed OEIS, single umbilical artery, and sacrococcygeal spinal defect in Twin B. At 33 + 6 weeks, the OEIS fetus underwent selective feticide by intrafetal laser therapy after multidisciplinary consultation, and then the caesarean section was performed. The OEIS fetus was weighed 1769 g, with no external genitalia and anus, and presented with a bulging of 3 × 4 cm at the umbilical location. The healthy co-twin (2020 g, Apgar scores 8/9 at 1/5 min) was followed up to 18 months with normal growth and development. METHODS AND RESULTS OF LITERATURE REVIEW: We conducted an extensive literature review (English and Chinese) using keywords including "OEIS syndrome/complex", "twin pregnancy", and "multiple pregnancy", analyzing 20 relevant cases of OEIS in twin pregnancies. CONCLUSIONS: Based on our case and literature review, OEIS complex is more common in monozygotic twins, with no significant gender predilection. In discordant twin pregnancies (only one fetus affected), the co-twin has a high likelihood of survival without malformations, and selective feticide should be considered. Concordant twin pregnancies (both fetuses affected) are associated with poor prognosis.

The OEIS complex-comprising omphalocele, cloacal exstrophy, imperforate anus, and spinal defects-remains among the most uncommon and severe neonatal malformations, and its reconstruction demands carefully sequenced operations. We describe a male neonate managed through a two-stage strategy. On the second day of life, omphalocele repair, adhesiolysis, terminal ileostomy, and cecal resection were undertaken, while bladder closure was intentionally postponed. At eight months, hemibladder approximation and abdominal wall reconstruction followed. Eleven-month follow-up showed stable clinical status, functioning ileostomy, and resolving right-sided hydronephrosis. This case supports staged reconstruction as a feasible pathway in this rare entity.