Child to adulthood clinical description of MDPL syndrome due to a novel variant in POLD1.

Mandibular hypoplasia, Deafness, Progeroid features, and Lipodystrophy (MDPL) syndrome is a rare autosomal dominant disorder caused by mutations in POLD1 gene and characterized by mandibular hypoplasia, deafness, progeroid features and lipodystrophy. One recurrent mutation p.(Ser605del) was reported in almost all affected patients.

Successful endoscopic ultrasound-guided ethanol ablation of a sporadic insulinoma.

Objective: Most insulinomas are benign sporadic tumours that require complete resection to avoid recurrent symptoms of hypoglycaemia. Alternate minimally invasive therapies are seeked in elderly patients in whom extensive surgery might be life-threatening. We wanted to evaluate the feasibility, safety and efficacy of ethanol injection using endoscopic ultrasound (EUS) guidance to ablate a pancreatic insulinoma.