Zinner Syndrome in Pediatric Age: Issues in the Diagnosis and Treatment of a Rare Malformation Complex

Zinner syndrome (ZS) is the association of congenital seminal vesicle cysts and ipsilateral upper urinary tract anomalies, such as multicystic displastic kidney (MCDK). This condition is rare in pediatric age and both diagnosis and treatment are challenging. The aim of this study was to analyze the issues in diagnosis, management, and treatment of ZS in pediatric age. The medical records of two patients with ZS were examined. Furthermore, a review of the literature on this topic in pediatric age was performed. In our experience the diagnosis of ZS was incidentally achieved in the first months of life, as a consequence of studies performed for a prenatal diagnosis of MCDK. The first patient presented unspecific and transient symptoms, the second infant was completely asymptomatic. They were conservatively treated, with a long-term follow-up planned at least until adolescence. Fifty cases of ZS in pediatric age have been reported in the literature up to now. Only 12/50 were diagnosed in the first year of life. The diagnosis was demanding, as the clinical presentation was unspecific and the results at imaging studies needed a differential diagnosis with other retrovesical masses. More than 80% of these cases were asymptomatic at long-term follow-up. Therefore, a conservative management of ZS has been accepted for asymptomatic or poorly symptomatic patients, with occasional, transient, and unspecific symptoms, such as urinary tract infections or orchyepididimytis. As the surgical management is challenging, it is proposed only in those symptomatic patients. In conclusion, ZS is rare in pediatric age. However, it should be considered in the differential diagnosis of cystic masses within the pelvis in males with ipsilateral renal anomalies. A conservative treatment with a long-term follow-up is a safe option in the management of asymptomatic or poorly symptomatic patients, thus reserving the surgical approach only in those cases with symptoms

Novel mutation in the ligand‐binding domain of the androgen receptor gene (1790p) associated with complete androgen insensitivity syndrome

Mutations in the X-linked androgen receptor (AR) gene cause androgen insensitivity syndrome (AIS), resulting in an impaired embryonic sex differentiation in 46,XY genetic men. Complete androgen insensitivity (CAIS) produces a female external phenotype, whereas cases with partial androgen insensitivity (PAIS) have various ambiguities of the genitalia. Mild androgen insensitivity (MAIS) is characterized by undermasculinization and gynecomastia. Here we describe a 2-month-old 46,XY female patient, with all of the characteristics of CAIS. Defects in testosterone (T) and dihydrotestosterone (DHT) synthesis were excluded. Sequencing of the AR gene showed the presence in exon 6 of a T to C transition in the second base of codon 790, nucleotide position 2369, causing a novel missense Leu790Pro mutation in the ligand-binding domain of the AR protein. The identification of a novel AR mutation in a girl with CAIS provides significant information due to the importance of missense mutations in the ligand-binding domain of the AR, which are able to induce functional abnormalities in the androgen binding capability, stabilization of active conformation, or interaction with coactivators

Robot-assisted resection of gastric duplication cysts in a child: a detailed case report.

Gastric duplication cysts (GDCs) represent 4-9% of alimentary tract duplications. Early diagnosis and surgical excision are essential to avoid morbidity or neoplastic degeneration. Roboticassisted excision of GDCs has never been described in childhood. We report an asymptomatic male patient with 2 gastric cystic masses at ultrasonography (US)-study (diameter 25mm and 8mm), increasing in size at follow-up. At 20 months of age, magnetic- resonance-imaging-scan confirmed 2 round gastric masses (44×35mm and 16×12mm, respectively). Two months later, an elective robotic-assisted excision of GDCs was completed without complications. The patient was discharged at day 6 after procedure. Histology confirmed the diagnosis of GDCs. At a 2-year follow- up, US-study did not evidence any issue. In this first reported case of robotic-assisted cystectomy for CGD in childhood, the procedure seems safe, effective, and feasible. This approach improves the movements of the surgical instruments with better 3- D visualization in comparison with the laparoscopic approach

Rise of pediatric robotic surgery in Italy: a multicenter observational retrospective study

open15noAbstract Background: The minimally invasive surgery (MIS) in term of robot-assisted surgery changed in a dramatic way the surgical approach either in adults or children. For many specialties (urology, gynecology, general surgery) robotic surgery rapidly became the gold standard for some procedures, while the experience in pediatric population is not wide for some reasons. The aim of this study is to retrospective analyze trends of application of robotic surgery in pediatric patients across the country, focusing on indications, limitations, development, and training acquired by national experience and in comparison to the literature. Methods: We made a retrospective multicenter study on behalf of Italian Society of Pediatric Surgery. We performed a census among all pediatric surgery units in the country to enroll those performing robotic surgery on children between 2013 and 2019. Results: We enrolled 7 pediatric surgery referral Centers (Ancona, Bologna, Brescia, Genova, Pavia, Pescara, Siena). A total of 303 patients were included in the study, 164 males (54%) and 139 females (46%). The most commonly performed interventions for each anatomic area were respectively atypical pulmonary resection (38%), pyeloplasty (49%), and fundoplication (30%). Conclusions: Since its first application in Italy, about 10 years ago, several considerations were made about application and feasibility of robotics in children.openAngotti, Rossella; Raffaele, Alessandro; Molinaro, Francesco; Riccipetitoni, Giovanna; Chiesa, Pierluigi Lelli; Lisi, Gabriele; Mattioli, Girolamo; Alberti, Daniele; Boroni, Giovanni; Mariscoli, Francesca; Martino, Ascanio; Pelizzo, Gloria; Maffi, Michela; Messina, Mario; Lima, MarioAngotti, Rossella; Raffaele, Alessandro; Molinaro, Francesco; Riccipetitoni, Giovanna; Chiesa, Pierluigi Lelli; Lisi, Gabriele; Mattioli, Girolamo; Alberti, Daniele; Boroni, Giovanni; Mariscoli, Francesca; Martino, Ascanio; Pelizzo, Gloria; Maffi, Michela; Messina, Mario; Lima, Mari

Long-Term Follow-Up of Testicular Microlithiasis in Children and Adolescents: Multicenter Prospective Cohort Study of the Italian Society of Pediatric Urology.

Introduction Testicular microlithiasis (TM), characterized by the presence of intratubular calcifications in a single or both the gonads, is an uncommon entity with unknown etiology and outcome in pediatric and adolescent age. In this study, the results of a multicenter long-term survey are presented. Materials and Methods From 11 units of pediatric urology/surgery, patients with TM were identified and yearly, followed up in a 7-year period, adopting a specific database. The recorded items were: age at diagnosis, presenting symptoms/associated abnormalities, ultrasonographic finding, surgery and histology at biopsy, if performed. Results Out of 85 patients, 81 were evaluated yearly (4 patients lost to follow-up). TM was bilateral in 66.6% of the patients. Associate genital abnormalities were present in 90%, more frequently undescended/retractile testis (23.4%) and varicocele (22.2%). TM remained unchanged at 4.7 years follow-up in 77 patients (93.8%) and was reduced in 4 patients after 1 to 5 years of inguinoscrotal surgery. Orchiectomy was performed in three patients (3.7%), one for severe testicular hypoplasia and two for seminoma (2.5%), respectively, concurrent and metachronous to diagnosis of TM. Tumorectomy with parenchymal sparing surgery was performed in a teratoma associated with TM. Conclusion TM is a controversial entity, often associated with several inguinogenital features, which rarely can recover. Testicular malignancy, although present in TM, has not proven definitively associated to microliths. Proper counseling, yearly ultrasound, and self-examination are long-term recommended

Recurrent intussusception caused by submucosal, heterotopic gastric mucosa in the terminal ileum

Isolated, heterotopic gastric mucosa (HGM) can be a rare, pathologic leading point for intestinal intussusception in pediatric age. Affected children often experience recurrent episodes of intussusception, sometimes with delay in diagnosis and more than one surgery, because of difficulty in clear diagnosis and identification of HGM. Intraoperative findings of isolated HGM, as reported in literature, are visible or palpable lesions, protruding into the intestinal lumen. We describe the case of a 4 years old boy with recurrent intussusception, caused by a very small islet of ileal, isolated HGM, entirely developing in the submucosal layer and with a normal overlying mucosa. The difficulties in its diagnosis and treatment are described and the role of 99mTc pertechnetate scan and ultrasound are discussed. Keywords: Heterotopic gastric mucosa, Intussusception, 99mTc pertechnetate sca

Pediatric primary spontaneous pneumothorax: a comparison of treatment at pediatric surgery vs. thoracic surgery departments

Management of pediatric Primary Spontaneous Pneumothorax (PSP) is controversial and based on guidelines on adults. Therapeutic strategies include: observation, needle aspiration, chest drain, or surgery. We aimed to assess: i) differences in the management of PSP in pediatric vs. adult departments; ii) risk of recurrence associated to each therapeutic choice; iii) management of “large” pneumothorax (i.e. >3cm at the apex on chest X-Ray); iv) role of CT scan in addressing the treatment. We reviewed all PSP treated at Pediatric Surgery Unit (PSU) and Thoracic Surgery Unit for adults (TSU) in a 10-year period (2011 to 2020). We included a total of 42 PSP: 30/42 1st episodes and 12/42 recurrences. Among the 30/42 1st episodes, 15/30 were managed in the PSU and 15/30 in the TSU. Observation was significantly most common among PSU patients (9/15, 60%) vs. TSU cases (1/15, 6.7%; p=0.005]. Chest drain placement was reduced in PSU (3/15, 20%) vs. TSU (12/15, 80%; p=0.002). Observational was associated with a reduced risk of recurrence (0/10, 0%) compared to chest drain (7/15, 46.7%; p=0.01). Management of 20/42 “large” pneumothorax was: 4/20 (20%) observation, 10/20 (50%) chest drain, 2/20 (10%) needle aspiration, 4/20 (20%) surgery. Twentythree/ 29 PSP (79.3%) underwent CT-scan after the first episode. Bullae were detected in 17/23 patients and 5/17 (29.4%) had seven episodes of recurrence. PSP patients treated by PSU were more likely to receive clinical observation. Those managed by TSU were mostly treated by chest drain. Observation seems an effective choice for clinically stable PSP, with low risk of recurrence at a mid-term follow-up. CT-scan seems not to detect those patients at higher risk of recurrence

A Rare Case of Giant Mesenteric Lipoblastoma in a 6-Year-Old Child and Review of the Literature

Giant mesenteric lipoblastoma is a rare benign tumor arising from the adipocytes. It can mimic malignant tumors, and its diagnosis is difficult before surgery. Imaging studies could lead the diagnosis but not confirm it. Those tumors arising in the abdomen are usually larger and can cause symptoms of compression. Surgical excision is the treatment of choice, and a long-term follow-up is necessary to detect local recurrences. Only a few cases of lipoblastomas arising from the mesentery are reported in literature. We present a case of a rare giant lipoblastoma arising from the mesentery of a 6-year-old girl, with a history of postprandial abdominal pain