A 4-month-old female presented with progressive abdominal distention and feeding difficulties. Diagnostic laparoscopy with peritoneal drainage yielded 970 mL of milky ascites. Fluid analysis confirmed chylous ascites (triglyceride level, 3177 mg/dL; lymphocyte predominance, 94.8%) with negative culture and cytology results. Contrast-enhanced abdominal computed tomography revealed massive ascites without intra-abdominal lesions or significant lymphadenopathy. Despite conservative therapy and continuous high-output drainage (approximately 500 mL/day), the leak persisted. Planar lymphoscintigraphy with technetium-99m radiotracer injected subcutaneously into the dorsum of both feet confirmed lymphatic leakage into the ascites and provided regional guidance regarding the suspected source; however, no discrete focal hotspots were identified. Based on these scintigraphic findings, intraoperative near-infrared fluorescence lymphography using indocyanine green was performed the following day, enabling real-time visualization of active leakage and facilitating targeted laparoscopic treatment. Targeted electrocautery ablation markedly reduced leakage on real-time fluorescence imaging, and a fibrin sealant was subsequently applied. The patient ultimately achieved full oral feeding and showed no recurrence of ascites at the 2-year follow-up. This case illustrates a practical sequential imaging approach for refractory pediatric chylous ascites: lymphoscintigraphy for functional confirmation and regional guidance, followed by intraoperative indocyanine green fluorescence for focal confirmation and targeted treatment.

Accessory scrotum is a rare congenital anomaly resulting from aberrant scrotal development. It is usually present at birth in the perineum of male infants and is often associated with a lipoma at its base. Here, we report a peculiar case of an accessory scrotum present at birth on the skin adjacent to the anus. The accessory scrotum was continuous with a narrow stalk consisting of longitudinally oriented connective tissue and nerve bundles within the fatty tissue, which further extended to a terminal nodule containing articular cartilage and marrow tissues in the ischiorectal fossa, forming a 7-cm-long structure. The components of the stalk and terminal nodule resembled those described in the human tail but ran subcutaneously without a skin covering. Therefore, the lesion was diagnosed as an accessory scrotum with a human tail-like structure. The lesion was completely resected at 10 months of age. Preoperative whole-body computed tomography revealed no other anomalies, and the infant demonstrated normal development approximately 1 year postoperatively. To our knowledge, no similar cases have been reported, and its histogenesis remains unexplained. We postulated that this lesion may result from the ectopic migration of pluripotent cells derived from the tail bud during early embryonic development. This case provides unique insights into the shared embryological mechanisms between accessory scrotum and human tail-like anomalies.

Multiseptate gallbladder is a rare congenital anomaly characterized by multiple intraluminal septa. While often asymptomatic, it can present with abdominal pain or complications, such as gallstones. Cases of multiseptate gallbladder with gallstones have been rarely reported. We describe the case of a 15-year-old girl with multiseptate gallbladder complicated by cholelithiasis. No other biliary ductal anomalies were identified. Laparoscopic cholecystectomy was performed and the gallstones were identified as bilirubin stones. Complete symptom relief was achieved postoperatively. This case highlights that multiseptate gallbladder may contribute to bile stasis and pigment stone formation, even in the absence of other congenital anomalies. Early imaging is essential to confirm the diagnosis and guide management. Magnetic resonance cholangiopancreatography enabled exclusion of associated anomalies, guiding management.

Littre's hernia is a rare type of hernia in which Meckel's diverticulum is found in the hernia sac. While most cases present with incarceration, incidentally discovered cases of Littre's hernia without incarceration are even rarer. A three-month-old boy was referred to our hospital with a three-month history of right inguinal swelling. Although the swelling was reducible, re-prolapse was readily observed. Small bowel obstruction and gastrointestinal bleeding had not been experienced. Laparoscopic herniorrhaphy was planned for right inguinal hernia repair at four months of age during which Littre's hernia was incidentally discovered intraoperatively. Following laparoscopic herniorrhaphy, extracorporeal small bowel resection was performed. The postoperative course was uneventful and the patient was followed up for nine months without symptoms. Laparoscopic herniorrhaphy is a useful surgical technique, as it may facilitate the detection of unexpected complications, which might be overlooked with the inguinal approach.

Accessory scrotum is a congenital scrotal anomaly that is usually located anterior to the anus and frequently presents with a lipoma in a bead-like shape. Herein, we present an unusual case of an accessory scrotum with a lipoma connected by a narrow stalk and located posterior to the anus. A 1-month-old boy was referred to our hospital for a perineal mass present at birth. He was born at 37 weeks and 2 days, with a birth weight of 2962 g. No abnormalities occurred during the perinatal period, and the birth was uneventful. The mass had an unusual shape, comprising two masses connected by a narrow stalk. The base of the mass was posterior to the anus and was connected to the rectal mucosa. The proximal mass was elastic and soft without skinfolds, whereas the distal mass was elastic and soft with a scrotum-like skinfolds. Magnetic resonance imaging showed no spina bifida. High-intensity adipose tissues in both masses and low-intensity vessels or fibrous stroma in cord-like structures between the two masses were found on T2-weighted images. At 3 months of age, the patient underwent resection in the prone jackknife position. No tumorous lesions were connected to the mass on the rectal and coccyx sides, and the mass was completely removed, preserving the anal sphincter. Histologically, the distal mass had characteristics of a scrotum, whereas the proximal mass was exclusively a lipoma. The connecting stalk had normal skin structures and a blood vessel with parallel-running nerve bundles. The postoperative course was uneventful, and the patient was discharged on postoperative day 6. This case of accessory scrotum was unusual in its location and the presence of a stalk connecting the accessory scrotum and lipoma. The mechanism underlying accessory scrotum development remains unclear, and our report may impact the discourse regarding the embryological development of the accessory scrotum.

The COL4A1 (collagen Type 4 alpha1) pathogenic variant is associated with porencephaly and schizencephaly and accounts for approximately 20% of these patients. This gene variant leads to systemic microvasculopathy, which manifests as brain, ocular, renal, and muscular disorders. However, only a few patients with surgical interventions have been reported and the potential surgical risks are unknown. Here, we present the cases of two female patients between 7 and 8 years of age who were diagnosed with the COL4A1 variant and underwent laparoscopy-assisted percutaneous endoscopic gastrostomy (LAPEG) for oral dysphagia. Their primary brain lesions were caused by porencephaly and paralysis, which are caused by multiple cerebral hemorrhages and infarctions, and both patients had refractory epileptic complications. Although LAPEG was successfully performed in both patients without any intraoperative complications, one patient developed alveolar hemorrhage postoperatively and required mechanical ventilation. Thus, careful perioperative management of patients with the COL4A1 variant is important.

Background Congenital tracheal stenosis (CTS) is a rare and life-threatening airway disorder, which is often associated with cardiac malformations. Among them, neonatal symptomatic CTS with cardiac malformations has an extremely poor prognosis. In contrast to cardiac malformation, congenital diaphragmatic hernia (CDH) has rarely been associated with CTS. We report a neonatal case in which slide tracheoplasty and intracardiac repair were performed simultaneously for CTS and Fallot’s tetralogy (TOF). Case presentation An infant with left CDH and Fallot's tetralogy (TOF) was born by cesarean section at 38 weeks of gestation. At the time of resuscitation, a 2.5 mm (ID) endotracheal tube could only be inserted just below the vocal cords. After repairing the CDH at 3 days of age, planned extubation was performed at 7 days of age. However, the patient required re-intubation due to life-threatening episodes after 2 days of the extubation. Enhanced CT revealed a long segment CTS from the upper trachea to the right bronchus (length of stenosis: 40 mm, minimum inner diameter: 2 mm). At 24 days of age, veno-arterial extracorporeal membrane oxygenation (ECMO) was introduced due to severe respiratory failure. At 28 days of age, slide tracheoplasty and palliative right ventricular outflow tract reconstruction (RVOTR) was performed with cardiopulmonary bypass (CPB). After tracheoplasty, a 3.5 mm tracheal (ID) tube could be placed in the reconstructed trachea in a patient with CTS. ECMO was completed 7 days after the operation. On the 17th day after the operation, he was extubated successfully. He was discharged 5 months after birth with home oxygenation therapy. Conclusions We reported the successful simultaneous correction of slide tracheoplasty and palliative RVOTR for a neonate with CDH. ECMO was used for respiratory management before and after surgery.

Background Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of genetic autosomal recessive diseases that cause severe cholestasis, which progresses to cirrhosis and liver failure, in infancy or early childhood. We herein report the clinical outcomes of surgical management in patients with four types of PFIC. Case presentation Six patients diagnosed with PFIC who underwent surgical treatment between 1998 and 2020 at our institution were retrospectively assessed. Living-donor liver transplantation (LDLT) was performed in 5 patients with PFIC. The median age at LDLT was 4.8 (range: 1.9–11.4) years. One patient each with familial intrahepatic cholestasis 1 (FIC1) deficiency and bile salt export pump (BSEP) deficiency died after LDLT, and the four remaining patients, one each with deficiency of FIC1, BSEP, multidrug resistance protein 3 (MDR3), and tight junction protein 2 (TJP2), survived. One FIC1 deficiency recipient underwent LDLT secondary to deterioration of liver function, following infectious enteritis. Although he underwent LDLT accompanied by total external biliary diversion, the patient died because of PFIC-related complications. The other patient with FIC1 deficiency had intractable pruritus and underwent partial internal biliary diversion (PIBD) at 9.8 years of age, pruritus largely resolved after PIBD. One BSEP deficiency recipient, who had severe graft damage, experienced recurrence of cholestasis due to the development of antibodies against BSEP after LDLT, and eventually died due to graft failure. The other patient with BSEP deficiency recovered well after LDLT and there was no evidence of posttransplant recurrence of cholestasis. In contrast, recipients with MDR3 or TJP2 deficiency showed good courses and outcomes after LDLT. Conclusions Although LDLT was considered an effective treatment for PFIC, the clinical courses and outcomes after LDLT were still inadequate in patients with FIC1 and BSEP deficiency. LDLT accompanied by total biliary diversion may not be as effective for patients with FIC1 deficiency.

Background: Hydrocele of the canal of Nuck (HCN) is a rare cause of inguinal swelling in women. The optimal surgical procedure for HCN in children remains unclear. To assess the safety and efficacy of laparoscopic percutaneous extraperitoneal closure (LPEC) for HCN in a pediatric population, a retrospective study was conducted. In addition, to clarify the pathogenesis of HCN, we assessed the morphological findings of the internal inguinal ring (IIR). Materials and Methods: We retrospectively analyzed 10 consecutive female patients with HCN who underwent LPEC at our hospital between January 2010 and May 2020. Age, operative time, and complications were recorded. Concerning the findings of the IIR, we classified the morphological features as follows: Type 1 (flat), Type 2 (narrow patent processus vaginalis [PPV] with a peritoneal veil), and Type 3 (widely opening PPV). Results: The median age of patients who underwent LPEC was 3 (1-12) years. Although 2 patients showed contralateral inguinal hernia (IH), there were no cases of ipsilateral IH. All patients showed ipsilateral PPV, and the morphological features of the IIR were mostly classified as Type 3 (70%). In total, 6 of 8 HCN cases without preoperatively diagnosed contralateral IH had contralateral PPV (75%), and all were closed by LPEC. All operations were accomplished laparoscopically, and the postoperative course was uncomplicated, with no recurrences observed during the study period. Conclusions: LPEC is a safe and simple surgical approach to repair the HCN in children with minimal complications.

Accessory scrotum (AS) is rarely diagnosed antenatally, and its prenatal features remain unknown. Here, we report a case of a prenatally diagnosed accessory scrotum with perineal lipoma. A 33-year-old woman was referred to our hospital at 35 weeks of gestation to evaluate a mass in the fetal perineal region. Prenatal ultrasonography showed a 2.0 × 2.0 cm sized, echogenic, and circular mass located posterior to the left scrotum in a male fetus. Magnetic resonance imaging (MRI) showed a mass containing adipose tissue. A 6.5 cm elastic mass (AS and protruding lipoma) was observed in the perineal region, and surgical excision was performed at 8 months of age. Histological examination confirmed the diagnosis of AS with perineal lipoma, and there was no recurrence at follow-up. The typical prenatal presentation of AS was a circular perineal mass located posterior to the normal scrotum and was associated with perineal lipoma. The prenatal detection of AS was feasible with careful observation via ultrasonography, and prenatal MRI was useful in characterizing perineal tumors and evaluating associated anomalies.

Hepatopulmonary syndrome (HPS) is a disease of gas exchange caused by intrapulmonary shunting secondary to liver disease-associated intrapulmonary vascular dilation. HPS is characterized by the triad of cirrhosis, chronic liver disease, or portosystemic shunting (PSS); arterial hypoxemia; and intrapulmonary arteriovenous shunting in the absence of a primary cardiopulmonary anomaly. We encountered a rare case of HPS without liver disease or PSS. The patient was an 8-year-old girl who underwent living donor liver transplantation (LDLT) shortly after developing fulminant hepatitis at 11 months of her age. Eight years after LDLT, hypoxemia and shortness of breath developed. The shunt ratio on 99mTc-macroaggregated albumin (MAA) lung perfusion scintigraphy (99mTc-MAA lung scan) was 32%. The patient had no cardiopulmonary disease, so we diagnosed her illness as HPS. We did not find cirrhosis, chronic liver disease, or PSS as a cause of HPS. We thought the graft was the cause of HPS. A second transplantation was planned. One year after the diagnosis of HPS, the shunt ratio on 99mTc-MAA lung scan worsened to 42%, digital clubbing appeared, and hypoxemia was worsening. Thus, we performed a second LDLT. After LDLT the shunt ratio on 99mTc-MAA lung scan normalized (6%) and cyanosis resolved. We determined that the graft was the cause of HPS; the typical causes of HPS were not clearly revealed in the histologic examination of the second liver explant. Acute rejection occurred twice after LDLT, so we speculated that HPS occurred because the graft became stressed over the long term.

Purpose Thoracoscopic repair (TR) of congenital diaphragmatic hernia (CDH) is associated with a higher recurrence rate than the conventional open method. We evaluated the effectiveness of our strategy for quality improvement, named "tension-free TR of CDH". Methods The subjects of this retrospective analysis were 11 consecutive patients with CDH who underwent TR at our hospital between 2017 and 2021. Tension-free TR of CDH included the proactive use of an oversized patch for dome-shaped reconstruction and gapless suturing. We developed a percutaneous extracorporeal closure technique for secure suturing using a commercially available needle. Results Patch repair was performed in 8 (73%) patients and none required conversion to open surgery because of technical difficulties. Recurrence developed in one patient (9%), who underwent successful reoperation via TR. All patients had an uneventful postoperative course. Conclusion Tension-free TR combined with extracorporeal closure could reduce the difficulty of suturing and the risk of recurrence of CDH.

Background Duplication cysts close to the ileocecal valve are usually treated with ileocecal resection. However, loss of the ileocecal valve will lead to problems, especially in infants. Mucosectomy of the cyst would be a better alternative that preserves the ileocecal valve. We report two cases of duplication cyst in the terminal ileum successfully treated with mucosectomy. Case presentation Case 1. A 3-month-old boy with bilious emesis and abdominal distention was referred to our hospital with a diagnosis of small bowel obstruction caused by an abdominal cyst. Computed tomography revealed a cystic mass compressing the terminal ileum and causing mechanical small bowel obstruction. His general condition deteriorated quickly; emergency laparotomy was performed. Although the small intestines were dilated and partially twisted, there was no necrosis. Following intestinal decompression, a cystic mass adjacent to the terminal ileum was confirmed on the mesenteric side. Cyst mucosectomy was performed to preserve the ileocecal valve. Case 2. A 5-month-old boy with sudden onset of hematochezia was referred to our hospital with a diagnosis of intussusception. Following unsuccessful contrast enemas, emergency surgery was performed. A cystic mass adjacent to the terminal ileum was confirmed; there was no intussusception. Cyst mucosectomy was performed. Both patients had an uneventful postoperative course. Conclusions Cyst mucosectomy, which preserves the ileocecal valve, is safe and effective for treating duplication cysts in the terminal ileum.

Background Congenital pyloric atresia (CPA) is a rare gastrointestinal anomaly frequently associated with epidermolysis bullosa (EB). Although the complications of familial isolated CPA are minor, delays in diagnosis can increase the chances of morbidity. Case presentation Three female infants born to a Japanese mother presented with CPA at birth. There was no consanguinity between the parents, and the spacing between pregnancies was 2 years in each case. All 3 siblings had a prenatal diagnosis of CPA owing to polyhydramnios and a dilated stomach, without dilatation of the rest of the gastrointestinal tract. All patients underwent reconstructive surgeries for establishing bowel continuity (Case 1, pyloromyotomy; Case 2, gastroduodenostomy in a diamond fashion; and Case 3, gastroduodenostomy in a side-to-side fashion) soon after birth. Their postoperative courses were uneventful, and they grew up healthily, without any complications. Conclusion Fetal ultrasonography is useful for diagnosing CPA prenatally. Successful prenatal diagnosis can lead to timely intervention after birth.

Purpose We compared the efficacy of thoracoscopic repair (TR) with that of open repair (OR) for neonatal congenital diaphragmatic hernia (CDH). Methods The subjects of this multicenter retrospective cohort study were 524 infants with left-sided isolated CDH, diagnosed prenatally, and treated at one of 15 participating hospitals in Japan between 2006 and 2018. The outcomes of infants who underwent TR and those who underwent OR were compared, applying propensity score matching. Results During the study period, 57 infants underwent TR and 467 underwent OR. Ten of the infants who underwent TR required conversion to OR for technical difficulties and these patients were excluded from the analysis. The survival rate at 180 days was similar in both groups (TR 98%; OR 93%). Recurrence developed after TR in 3 patients and after OR in 15 patients (TR 7%, OR 3%, p = 0.40). The propensity score was calculated using the following factors related to relevance of the surgical procedure: prematurity (p = 0.1), liver up (p < 0.01), stomach position (p < 0.01), and RL shunt (p = 0.045). After propensity score matching, the multivariate analysis adjusted for severity classification and age at surgical treatment revealed a significantly shorter hospital stay (odds ratio 0.50) and a lower incidence of chronic lung disease (odds ratio 0.39) in the TR group than in the OR group. Conclusions TR can be performed safely for selected CDH neonates with potentially better outcomes than OR.

Abstract Introduction: Recently the application of Kampo, or Japanese traditional medicine, to lymphatic malformation (LM) has been reported, but there are no reports of its effects against neonatal LM. We herein report a case of a neonatal huge cervical LM successfully treated with eppikajutsuto and ogikenchuto without tracheostomy or sclerotherapy. Patient concerns: A baby boy with a huge cyst in his right neck was delivered by Caesarean section without a prenatal diagnosis. The cyst extended and slightly compressed the trachea on the 7th day after birth. Diagnosis: The patient was diagnosed with LM by ultrasonography. Interventions: Although we planned sclerotherapy with OK-432 followed by tracheostomy, his parents refused tracheostomy. Therefore, we started the administration of eppikajutsuto (0.5 g/kg/d) on the 26th day of life instead of sclerotherapy. As the cyst was slightly enlarged at the beginning of eppikajutsuto administration, we increased the dose of eppikajutsuto to 0.75 g/kg/d and added ogikenchuto (0.4 g/kg/d), expecting greater regression of the lesion than with the initial regimen. Outcomes: After a few days, the cyst started to diminish in size. Six months later, magnetic resonance imaging showed remarkable regression of the LM without tracheal compression. Lessons: The combination of eppikajutsuto and ogikenchuto was thus found to be effective in the treatment of a neonatal LM. This is the first report to demonstrate that the dose-escalation of eppikajutsuto may therefore be effective without any severe adverse effects, even in neonates.

Purpose: Portoenterostomy is the standard treatment for biliary atresia (BA) that reduces jaundice in two thirds of cases. However, progressive liver fibrosis is common, leading to cirrhosis in most patients. Autotaxin is a new marker for the progression of hepatic fibrosis. We examined the relationship between serum autotaxin levels and liver histological findings in patients with BA. Methods: BA patients with native livers were identified in our hospital. Patients underwent protocol liver biopsies every 1 to 5 years, and liver fibrosis was evaluated based on the METAVIR score. Serum autotaxin levels were compared with the last available pathological findings. Results: Thirty-five patients were included and the median age was 10.6 years. Serum autotaxin levels was median 1.6 mg/L. The mean autotaxin level was 1.08 mg/L in F0, 1.07 mg/L in F1, 0.95 mg/L in F2, 2.17 mg/L in F3, and 2.50 mg/L in F4; it was significantly higher in F4 than in F0-F2 ( P < 0.0024). For predicting cirrhosis (F4) and advanced liver fibrosis ( >= F3), autotaxin had the almost same areas under the curve (AUCs 0.78 and 0.90, respectively) as well as M2BPGi. Conclusion: Autotaxin levels could be used to evaluate the status of native liver fibrosis. (c) 2021 Elsevier Inc. All rights reserved.

We provided in - hospital - dispensed selenium injections （ Se ） to home parenteral nutrition （ HPN ） patients with hyposelenemia until commercial Se products became available in 2019. Subject and methods ： At the end of 2019, we retrospectively examined 27 of 50 HPN patients who visited our hospital and were prescribed Se preparations for more than 6 months regarding the amount of Se used, the duration of use, changes in serum Se levels, and the presence of adverse events. Results ： Patients ranged in age from 2 to 78 years （ median 22 years ）． Seventeen of the patients were older than 16 years of age. The most common underlying disease was short bowel disease, with daily Se doses ranging from 25 to 200 μ g/dL/ day （ 4 μ g/kg/day ）． The daily Se dose was higher than the marketed formulation （ 2 μ g/kg/day ） and ranged from 25 to 200 μ g/dL/day （ 4 μ g/kg/day ）． The blood level of Se （ normal ： 13 - 20 μ g/dL ） was maintained at 8.3 - 23 μ g/dL （ median ： 14.8 μ g/dL ）． Although variation was noted in the values, no adverse events were observed. In summary, the need of Se preparations by HPN patients was higher and more prolonged than prescribed. Although provision of the in - hospital product ended after the commercial Se product became available, adjustment of the dose according to patient needs may be required.

Purpose Portoenterostomy (PE) is the standard treatment for biliary atresia (BA). However, micro-bile ducts are difficult to identify with surgical loupes and dissect systematically. We report the effects of our attempts to dissect hilar tissue using a surgical microscope. Methods Microscopy-assisted portoenterostomy (MAPE) was initiated in 2014. Patients born between 2000 and 2013 who underwent PE until day 70 without a surgical microscope for BA were gathered as historical control. MAPE in re-do PE cases (Re-MAPE) was evaluated in the same manner. Results Ten patients underwent MAPE for BA during the study period. 17 patients in the conventional PE group were gathered. In the MAPE group, the jaundice clearance rate was 80%, compared with 53% in the conventional PE group. Re-MAPE was performed in four patients, who had a jaundice clearance rate of 75%, essentially identical to the rate with initial MAPE. At age 4 years, the native liver survival rate was 58% in the MAPE group and 38% in the conventional PE group. The native liver survival rate in the Re-MAPE group was 75%. Conclusion MAPE is useful for sharing the surgical field during open PE in patients with BA. It may improve the rate of jaundice clearance.