Robotic transoral vestibular parathyroidectomy: Two case reports and review of literature

Advances in preoperative localization studies and demands for scarless surgery have promoted the investigation for remote techniques in parathyroid surgery. Transoral vestibular approach seems to provide the most comfortable and safest access to the neck. In this paper, we report our initial experience with robotic transoral vestibular parathyroidectomy (RTVP) in four patients with primary hyperparathyroidism. The surgery was performed with the Da Vinci system through three trocars introduced from the lower lip vestibule. The procedure was converted to open in two patients due to inappropriate preoperative localization. The mean operative time was 169 min. No postoperative complications were seen. Patients were discharged on postoperative day 1. RTVP is a feasible and safe technique, which allows better surgical exposure and manipulation of the instruments. The advantages of transoral vestibular approach can be enhanced by robotics. Further studies are needed to analyze complications and costs.     

Glutaric acidemia type II patient with thalassemia minor and novel electron transfer flavoprotein-A gene mutations: A case report and review of literature

Glutaric acidemia type II (GAII), also known as multiple acyl-CoA dehydrogenase deficiency, is an autosomal recessive inborn error of amino acid and fatty acid metabolism. We report a case of GAII with novel electron transfer flavoprotein (ETF)-A mutations in a 2-year-old female with thalassemia minor. The patient developed an episode of hypoglycemia and hypotonicity on the postnatal first day. Laboratory investigations revealed elevations of multiple acyl carnitines indicating glutaric acidemia type II in newborn screening analysis. Urinary organic acids were evaluated for the confirmation and revealed a high glutaric acid excretion. Genetic analysis revealed two novel mutations in the ETF-A gene, which are considered to be compound heterozygote. At the 8 mo of life ketone therapy was added, which significantly increased the neuromotor development. The patient had been closely followed for two years with carnitine, riboflavin, coenzyme Q10, and ketone supplementation in addition to a high carbohydrate diet. Although the patient had comorbidity like thalassemia minor, her neuromotor development was normal for her age and had no major health problems. This specific case expands the previously reported spectrum of this disease.