Spectrum of clinical manifestations in two young Turkish patients with congenital generalized lipodystrophy type 4
Articles > Article · 2016
Authors: Gulcin Akinci, Haluk Topaloglu, Baris Akinci, HÜSEYİN ONAY, Cem Karadeniz, Yakup Ergul, Tevfik Demir, Emin Evren Ozcan, Canan Altay, Tahir ATİK, Abhimanyu Garg
European Journal of Medical Genetics, Journal Indexed in SCI Expanded, International, WoS, 2016, vol 59, pp 320-324
DOI: 10.1016/j.ejmg.2016.05.001
Summary
Congenital 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.