Spectrum of clinical manifestations in two young Turkish patients with congenital generalized lipodystrophy type 4
EUROPEAN JOURNAL OF MEDICAL GENETICS, vol.59, pp.320-324, 2016 (SCI-Expanded, Scopus)
- Publication Type: Article / Article
- Volume: 59
- Publication Date: 2016
- Doi Number: 10.1016/j.ejmg.2016.05.001
- Journal Name: EUROPEAN JOURNAL OF MEDICAL GENETICS
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Page Numbers: pp.320-324
- Keywords: Arrhythmia, Lipodystrophy, Insulin resistance, Myopathy, PTRF
- Dokuz Eylül University Affiliated: Yes
Abstract
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.