Akinci, GulcinTopaloglu, HalukAkinci, BarisOnay, HuseyinKaradeniz, CemErgul, YakupDemir, TevfikOzcan, Emin EvrenAltay, CananAtik, TahirGarg, Abhimanyu2019-10-272019-10-2720161769-72121878-0849https://doi.org/10.1016/j.ejmg.2016.05.001https://hdl.handle.net/11454/52702Congenital generalized lipodystrophy type 4 is an extremely rare autosomal recessive disorder. We report our clinical experience on two unrelated Turkish patients with congenital generalized lipodystrophy type 4. A 13-year-old girl (patient-1) presented with generalized lipodystrophy and myopathy. Further tests revealed ventricular and supraventricular arrhythmias, gastrointestinal dysmotility, atlantoaxial instability, lumbosacral scoliosis, and metabolic abnormalities associated with insulin resistance. A 16-year-old girl (patient-2) with congenital generalized lipodystrophy type 4 was previously reported. Here, we report on her long term clinical follow-up. She received several course of anti-arrhythmic treatments for catecholaminergic polymorphic ventricular tachycardia and rapid atrial fibrillation. An implantable cardioverter defibrillator was also placed. A homozygous PTRF mutation, c.259C > T (p.Gln87*), was identified in patient-1. Congenital generalized lipodystrophy type 4 was caused by homozygous PTRF c.481-482insGTGA (p.Lys161Serfs*41) mutation in patient-2. Our data indicate that patients with congenital generalized lipodystrophy type 4 should be meticulously evaluated for cardiac, neuromuscular, gastrointestinal and skeletal diseases, as well as metabolic abnormalities associated with insulin resistance. (C) 2016 Elsevier Masson SAS. All rights reserved.en10.1016/j.ejmg.2016.05.001info:eu-repo/semantics/closedAccessArrhythmiaLipodystrophyInsulin resistanceMyopathyPTRFArticle5906.Jul320324WOS:00037741470000427167729Q2Q3