Posterior Microscopic and Anterior Robotic Assisted STAGED Approach for Voluminous "Dumbbell" Ganglioneuroma - Surgical Technique and Literature Review.

Introduction: ganglioneuromas are benign tumors emerging from the sympathetic nervous system that could grow up to significant sizes before becoming symptomatic. Aim: to describe the surgical technique of the posterior microscopic and anterior robotic assisted staged approach for voluminous "dumbbell" ganglioneuroma. Besides this, a detailed report of the evolution of 9 years old female patient with such a tumor who underwent a staged bipolar approach, under direct neuromonitoring is presented. The literature has been reviewed on this topic. Methods: the neurosurgical approach consisted in S2-S3 laminectomy, resecting the intracanalar and intraforaminal S2 tumor, ligating and sectioning the S2 root, the surgical approach was minimally invasive using the DaVinci XI platform for excising the anterior retrorectal extension. Results: As for the posterior surgical stage, the neurosurgical operating time was 165 minutes with a five days hospital stay, and the second anterior surgical staged step took 660 minutes with five days hospital stay. There were no complications in both surgical stages, and the postoperative outcome was uneventful. The 6 months MRI evidenced no recurrency. Conclusions: the posterior microscopic and anterior robotic-assisted staged approach with continuous neuromonitoring for "dumbbell" ganglioneuroma has proven to be an efficient surgical strategy and technique. Further studies may support the effectiveness of this novel surgical approach and strategy.

Clinical characteristics in patients with hereditary amyloidosis with Glu54Gln transthyretin identified in the Romanian population.

BACKGROUND: In Romania, 23 patients have been diagnosed with hereditary transthyretin amyloidosis (ATTRh), 18 of whom have the Glu54Gln mutation. This retrospective cohort included all patients with Glu54Gln-mutated ATTRh who were diagnosed in Romania from 2005 to 2018. RESULTS: Of 18 patients, 10 were symptomatic, five were asymptomatic carriers and three died during the study. All originated from North-East Romania. Median age at symptom onset was 45 years; median age at death was 51 years. All patients had cardiac involvement, including changes in biomarkers (mean N-terminal-pro B-type natriuretic peptide: 2815.6 pg/ml), electrocardiography (15% atrial fibrillation, 38% atrioventricular block, 31% right bundle block), and echocardiography (mean interventricular septum: 16 mm, mean left ventricular ejection fraction: 49%). Scintigraphy showed myocardial radiotracer uptake in all patients. In addition, 92% of patients had polyneuropathy at diagnosis and 53% had carpal tunnel syndrome; 69% exhibited orthostatic hypotension and 31% suffered from diarrhea. No renal or liver involvement was observed. CONCLUSIONS: This is the largest Glu54Gln-mutated ATTRh cohort diagnosed to date, and to our knowledge the first describing this variant worldwide. Clinical features of this variant are early onset, neurological and cardiac involvement, aggressive disease progression and short survival. Early diagnosis and therapeutic intervention have potential to improve prognosis in ATTRh.