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Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare, autosomal recessive inherited disorder caused by mutations in ROBO3 gene. The clinical features of HGPPS include horizontal gaze palsy, progressive scoliosis, other oculomotor abnormalities such as strabismus and nystagmus. Whole-exome sequencing (WES) is used to diagnose rare Mendelian disorders, when routine standard tests have failed to make a formal pathological diagnosis. However, WES may identify variants of uncertain significance (VUS) that may add further ambiguity to the diagnosis. We report the case of a 4-year-old boy with horizontal gaze palsy, progressive scoliosis, microcephaly, and mild developmental delay. WES identified an intronic VUS in ROBO3 gene. We performed minigene splicing functional analysis to confirm the pathogenicity of this VUS. This report illustrates that WES data analysis with supportive functional analysis provides an effective approach to improve the diagnostic yield for unsolved clinical cases. This case also highlights the phenotypic heterogeneity in patients with HGPPS.▪ [ABSTRACT FROM AUTHOR]

Posterior retroperitoneoscoic adrenalectomy has been reported as an option for adrenal tumor resection but is not commonly performed in children owing to the extreme semikneeling position advocated to flatten the lumbar lordosis in order to achieve adequate retroperitoneal space. As children have smaller lordosis angles, flattening of the lordosis and creation of optimal retroperitoneal space may be achieved with less hip flexion. We used pediatric lumbar lordosis measurements to develop a modified prone jackknife position and report our experiences with this setup for posterior retroperitoneoscopic adrenalectomy for adrenal tumors. Lordosis angles were measured on sagittal computed tomography (CT) and magnetic resonance imaging (MRI) studies of patients with adrenal tumors and compared to normal references. The data were used to develop our modified prone jackknife position. Selected patients with adrenal tumors underwent posterior retroperitoneoscopic adrenalectomy in this position. Patient demographics, diagnoses, operative times, complications, postop analgesia requirements, and length of hospitalization were analyzed. CT and MRI studies were analyzed for 20 patients with adrenal tumors diagnosed in our institution from 2012 to 2017; median lordosis angle was 27.84° (range: 15.50°–36.48°) — less than reference lordosis angles of respective age groups, and flexion angles of common operating tables. Five patients underwent retroperitoneoscopic adrenalectomy between June 2016 and June 2018. Histological diagnoses were neuroblastoma, adrenal hyperplasia, pheochromocytoma, and adrenal angiomatoid fibrous histiocytoma. Median age was 4 years [range: 1–11]. Median operating time was 137 min [range 111–181 min]. No conversions to open surgery were required. One patient had intraoperative bleeding from the adrenal vein. Only 1 patient required postoperative opioids for analgesia. Median length of hospitalization after surgery was 2 days (range: 2–3 days). Pediatric patients can achieve flattening of lumbar lordosis with less extreme positioning. Posterior retroperitoneoscopic adrenalectomy in a modified prone jackknife position is a feasible operation for pediatric patients with small adrenal masses. Clinical research paper. Level III. [ABSTRACT FROM AUTHOR]

Variations in vascular anatomy (VIVAs) of the retroperitoneal great vessels are uncommon but can potentially complicate surgical procedures and negatively affect treatment outcomes, yet their incidence and clinical impact are poorly studied. We sought to assess the incidence and clinical impact of VIVAs of retroperitoneal great vessels in patients with retroperitoneal tumors. We retrospectively analyzed imaging, surgical, treatment and survival data of all pediatric patients with retroperitoneal tumors who underwent resection between January 2007 and October 2016, comparing preoperative scans with corresponding intraoperative observations, and subsequent surgical outcomes. Among 66 children with renal, adrenal and paravertebral tumors, 6 (9%) had retroperitoneal VIVAs. Retroperitoneal VIVAs were present only with right-sided tumors and significantly associated with more frequent intraoperative complications (P = 0.013). While the presence of retroperitoneal VIVAs was not directly associated with survival outcomes, relapse was more frequent in patients with VIVAs (33%) than those without (18.3%, P = 0.378), and relapse was also associated with lower overall and event-free survival (P < 0.001). VIVAs of retroperitoneal great vessels occurred in 9% of our patients with retroperitoneal tumors. Retroperitoneal VIVAs were associated with higher rates of intraoperative complications and disease relapse but was not directly related to survival outcomes. Type of Study: Retrospective review study. Level III Retrospective comparative study. [ABSTRACT FROM AUTHOR]

Objectives: To evaluate the clinical relevance of the nonvisualized appendix on ultrasound imaging in children with right lower quadrant pain.Study Design: We reviewed 1359 children admitted for abdominal pain between January and December 2013 who had abdominal ultrasound imaging for right lower quadrant pain. Patients who had scans for genitourinary symptoms or intussusception were excluded from the study. When the appendix was not visualized, secondary signs indicating right lower quadrant inflammatory pathology were noted.Results: Of all admissions for abdominal pain, 810 had ultrasound scans. Thirty-eight did not evaluate the appendix and 131 were excluded for suspected intussusception, leaving 641 reports for children with a median age of 10.8 years (range, 1.3-21.3); 297 were boys (46.3%). There were 17 of 160 patients with a nonvisualized appendix (10.6%) who underwent appendectomy. Of these, 14 had secondary signs on ultrasound imaging and 3 (1.9%) had normal ultrasound reports. The 3 patients with normal ultrasound imaging had computed tomography imaging confirming appendicitis. There were 51 patients with a partially visualized appendix. The segment of appendix that could be seen was normal in 34 patients, none of whom had appendectomy. The remaining 17 had appendectomy, in whom the appendix seemed to be inflamed in 13 and equivocal in 4, all with histologically confirmed appendicitis. Overall, 232 children underwent appendectomy; 58 had no ultrasound imaging done, and 5 had a histologically normal appendix (overall negative appendectomy rate, 2.2%). Only 35 of 1359 patients (0.03%) had computed tomography scans.Conclusion: In patients with a nonvisualized appendix on ultrasound imaging and no evidence of secondary inflammatory changes, the likelihood of appendicitis is less than 2%. Generous use of ultrasonography as an adjunct to clinical examination can achieve low negative appendectomy rates without underdiagnosis of acute appendicitis. [ABSTRACT FROM AUTHOR]