A case of right hypodysplastic kidney and ectopic ureter associated with bicornuate uterus in a prepubertal girl.

Congenital anomalies of the kidney and urinary tract (CAKUT) are frequently associated with Mullerian anomalies. This can be explained by the fact that Mullerian duct elongation depends on the preformed Wolffian duct during embryogenesis. While CAKUT such as unilateral renal agenesis and multicystic dysplastic kidney are commonly identified prenatally by routine ultrasound, the diagnosis of Mullerian anomalies is often delayed, increasing the risk of complications such as endometriosis or pelvic inflammatory disease. Herein, we report a case of a premenarchal girl who had initially been diagnosed with right multicystic dysplastic kidney. She presented with continuous urinary incontinence at 4 years old and further evaluation by contrast-enhanced computed tomography, cystoscopy, colposcopy, ureterography, and hysterosalpingography led to the final diagnosis of right hypodysplastic kidney and ectopic ureter associated with bicornuate uterus. A strong family history of uterine malformations prompted the examination of the uterus. Genetic testing was suggested but the family declined. She is planned to be referred to a gynecologist at puberty for further assessment. The recognition and screening rate of concurrent Mullerian anomalies in CAKUT patients varies between institutions. Screening for Mullerian anomalies in prediagnosed CAKUT girls may enable to provide timely counseling and to prevent gynecological complications.

Optimal treatment of pneumothorax in adolescents with Marfan syndrome.

PURPOSE: Pneumothorax often develops in patients with Marfan syndrome (MFS). Here, we examined the effects of conservative and surgical pneumothorax treatments in children with MFS. METHODS: In this study, 23 patients, less than 20 years old, diagnosed with both MFS and pneumothorax between 1999 and 2019 were included. All data were collected retrospectively from patients' medical records. RESULTS: In total, 18 of 23 patients (78%) had relapsed pneumothorax either on the ipsilateral or contralateral side. Among these 18 patients, 6 (26%) patients had multiple relapses. Conservative and surgical treatments of pneumothorax were attempted in 33 and 29 lungs, respectively. The conservative treatment was attempted as a definitive therapy in 21 lungs. Twelve conservative treatments (57%) failed, which required surgical intervention. In 9 lungs (43%) with successful conservative treatment, 6 (67%) had ipsilateral relapses. In contrast to the above findings, only 4 (13%) ipsilateral relapses were observed in 29 surgical treatments. CONCLUSIONS: Our study revealed a low response and high relapse rate when MFS adolescents who diagnosed pneumothorax were subjected to the conservative treatment modality. Thus, we recommend surgical intervention as the first line of therapy to treat pneumothorax in adolescents diagnosed with MFS. LEVEL OF EVIDENCE: Ⅲ (Treatment Study).

Prophylactic innominate artery transection to prevent tracheoinnominate artery fistula: a retrospective review of single institution experiences.

PURPOSE: This study aimed to investigate the optimal indication and availability of prophylactic innominate artery transection (PIAT). METHODS: We retrospectively analyzed the medical records of the patients with neurological or neuromuscular disorders (NMDs) who underwent PIAT. Meanwhile, we originally defined the tracheal flatting ratio (TFR) and mediastinum-thoracic anteroposterior ratio (MTR) from preoperative chest computed tomography imaging and compared these parameters between non-PIAT and PIAT group. RESULTS: There were 13 patients who underwent PIAT. The median age was 22 years. PIAT was planned before in one, simultaneously in five, and after tracheostomy or laryngotracheal separation in seven patients. Image evaluations of the brain to assess circle of Willis were performed in all patients. Appropriate skin incisions with sternotomy to expose the innominate artery were made in four patients. All patients are still alive except one late death without any association with PIAT. No neurological complications occurred in any patients. As significant differences (p < 0.01) between two groups were observed for TFR and MTR, objective validity of the indication of PIAT was found. CONCLUSIONS: PIAT is safe and tolerable in case of innominate artery compression of the trachea with NMDs. TFR and MTR are useful objective indexes to judge the indication of PIAT.

Efficacy and safety of sclerotherapy with polidocanol in children with internal hemorrhoids.

BACKGROUND: Hemorrhoids are an extremely rare condition in children, and data on its incidence and treatment in the pediatric population remains scarce. We retrospectively reviewed children who underwent sclerotherapy for internal hemorrhoids, and analyzed patients' characteristics and outcomes. METHODS: A total of 14 pediatric patients who underwent sclerotherapy were included. Patients' ages and the required amount of polidocanol, depending on the grade of hemorrhoids, and the correlation between age and volume of sclerosant, were statistically analyzed. RESULTS: Patients had a male predominance with a ratio of 2.5:1 (grade 2:6 patients, grade 3:8 patients). Four children had underlying conditions including portal hypertension and Klippel-Trenaunay syndrome. Of the 14 patients, 43% had constipation requiring medication or enema. Only one minor complication, a perianal ulceration, was found to be associated with sclerotherapy. Patients with grade 3 hemorrhoids required a significantly larger amount of polidocanol than those with grade 2 hemorrhoids. Two patients with grade 3 hemorrhoids required a second session of treatment for recurrence. The success rate of sclerotherapy with polidocanol was 86%. CONCLUSIONS: Sclerotherapy with polidocanol is a safe, effective, and less invasive treatment option for internal hemorrhoids in children. Further studies are needed to investigate this treatment approach.

Definitive Tumor Resection after Myeloablative High Dose Chemotherapy Is a Feasible and Effective Option in the Multimodal Treatment of High-Risk Neuroblastoma: A Single Institution Experience.

BACKGROUND/PURPOSE: The delayed local treatment approach (DL) in high-risk neuroblastoma (HR-NB) refers to the process in which tumor resection is performed after the completion of all the courses of chemotherapy, including myeloablative high-dose chemotherapy (HDC). Alternatively, in the conventional local treatment approach (CL), tumor resection is performed during induction chemotherapy. In this study, we compared the surgical outcomes in HR-NB patients treated by CL and DL. METHOD: Forty-seven patients with abdominal HR-NB underwent primary tumor resection from 2002 to 2018. The timing of surgery was generally determined by following the trials and guidelines available at the time. The outcomes and surgical complications between the two strategies were compared. RESULT: Operation time, blood loss, and postoperative WBC counts were lower in the DL group (n = 25) when compared to the CL group (n = 22), statistical significance notwithstanding. Major vascular structures were less frequently encased in the DL group tumors, while immediate surgical complications were significantly more frequent in the CL group (P < 0.05). Furthermore, the 3-year EFSs were 50.0% and 53.9% in the DL and CL groups, respectively. CONCLUSION: DL appears to be a feasible and effective treatment option for HR-NB. Nonetheless, further verifications using larger cohorts are warranted. LEVEL OF EVIDENCE: Treatment study, Level III.

Paediatric abdominal compartment syndrome and shock associated with gastric volvulus improved rapidly by gastric suction in the emergency department.

Abdominal compartment syndrome (ACS) is not rare and has a high mortality in the paediatric intensive care unit. However, there are few reports about this in the emergency department (ED). We report an 8 month-old male patient with ACS in shock associated with gastric volvulus who improved rapidly by a simple procedure in the ED. He had congenital comorbidities, including multiple cranial anomalies and was transferred because of decreased mental status. He had compensated shock with cold and mottled skin of the lower extremities, paediatric Glasgow Coma Scale of E3V5M6 and prominence of the left upper abdomen. The abdominal X-ray showed a considerably distended stomach. Soon after aspiration of gastric contents, shock and mental status improved. Physicians should consider ACS in the differential diagnosis of shock with abdominal distention. ACS may be ameliorated by gastric suction. Gastric volvulus can induce shock and decreased mental status, particularly in patients with comorbidities.

An investigation on clinical differences between congenital pulmonary airway malformation and bronchial atresia.

BACKGROUND/PURPOSE: Differences in clinical features between congenital pulmonary airway malformation (CPAM) and bronchial atresia (BA) have not yet been clearly described. METHODS: We retrospectively reviewed 112 patients with a pathological diagnosis of CPAM or BA. The clinical parameters were statistically analyzed between these diseases. RESULTS: Seventy-one patients received prenatal diagnosis and 41 received postnatal diagnosis. The percentage of prenatal diagnosis was significantly higher in CPAM patients (84% vs 50%, p < 0.001). Among patients with prenatal diagnosis, the backgrounds were not different between the two diseases except for the number of Caesarean sections (81% vs 9%, p < 0.0001). The numbers of patients that underwent fetal interventions and emergent neonatal surgery were higher in CPAM (51% vs 15%, p < 0.01 and 76% vs 12%, p < 0.0001), although there was no statistical difference in survival rate (86% vs 97%, p = 0.2). In patients receiving postnatal diagnosis, pneumonia was the primary symptom in most BA patients, whereas respiratory distress was the major symptom in patients with CPAM. Age at presentation of the primary symptom was significantly older in BA patients (4.2 years vs 1.2 years, p < 0.005). CONCLUSION: CPAM and BA have distinct clinical features in terms of therapeutic and natural history. Careful imaging evaluation and pathological analysis can lead to an accurate diagnosis of BA. TYPE OF STUDY: Prognostic study. LEVEL OF EVIDENCE: Level II. This study is categorized as a "Prognostic Study" with LEVEL III of Evidence.

Congenital cutaneous fistula at the sternoclavicular joint - Not a dermoid fistula but the remnant of the fourth branchial (pharyngeal) cleft ?

OBJECTIVES: A fourth branchial pouch remnant is well known as a pyriform sinus fistula. However, there has been no report of a fistula composed of the complete remnant of the fourth branchial apparatus. We experienced patients with a congenital lower neck cutaneous fistula which was thought to be the skin-side remnant of the fourth branchial cleft. MATERIALS AND METHODS: Seven children were referred to our hospital from 2009 to 2015 for the treatment of a cutaneous fistula situated near the sternoclavicular joint. All of them were surgically resected and their pathological characteristics were examined. Clinical charts were retrospectively reviewed. RESULTS: In six cases, the left side was affected. All cutaneous fistulas had a small skin orifice near the sternoclavicular joint and they were situated at the anterior edge of the sternocleidomastoid muscle. Abscess formation was seen in four cases. Surgical resection was performed at the age of 6 months to 9 years. These fistulas ran deep into the subcutaneous tissue and had a blind end. Pathological examination showed that the epithelial layer was mainly composed of a stratified squamous epithelium. In two cases the epithelium was composed of ciliated columnar epithelium. Recurrence has not been observed in any of the cases. CONCLUSION: The seven cases had a common clinical feature and were a definite clinical entity. Judging from the characteristics of our cases and the previous literature, we concluded that this lower neck cutaneous fistula was most likely a congenital skin-side remnant of the fourth branchial cleft.

[Successful surgical treatment for aortic valve regurgitation and thoracoabdominal aortic aneurysm in a patient with homozygous familial hypercholesterolemia; report of a case].

A 46-year-old woman with homozygous familial hypercholesterolemia was referred due to aortic regurgitation. The patient was introduced selective low density lipoprotein cholesterol(LDL)apheresis 20 years ago. Echocardiogram revealed severe aortic regurgitation, and computed tomography revealed thoracoabdominal aortic aneurysm. We considered 2 staged operations were necessitated. Firstly, aortic valve replacement was performed. Emergent coronary artery bypass grafting was also done because intraoperative myocardial ischemia was strongly suspected from left ventricular hypokinesis. One year later, replacement of thoracoabdominal aorta was performed. Post-operative course was uneventful and the patient was discharged at post-operative day 21. The patients with homozygous familial hypercholesterolemia must be strictly followed up because systemic atherosclerosis frequently exacerbates despite selective LDL apheresis.