title: Spectrum of clinical manifestations in two young Turkish patients with congenital generalized lipodystrophy type 4.
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.
authors.affiliation: Division of Pediatric Neurology, Dr. Behcet Uz Children's Hospital, Izmir, Turkey. Electronic address: akinci.gulcin@gmail.com.
authors.forename: Gulcin
authors.initials: G
authors.lastname: Akinci
authors.affiliation: Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University, Ankara, Turkey.
authors.forename: Haluk
authors.initials: H
authors.lastname: Topaloglu
authors.affiliation: Division of Endocrinology and Metabolism, Department of Internal Medicine, Dokuz Eylul University, Izmir, Turkey.
authors.forename: Baris
authors.initials: B
authors.lastname: Akinci
authors.affiliation: Department of Medical Genetics, Ege University, Izmir, Turkey.
authors.forename: Huseyin
authors.initials: H
authors.lastname: Onay
authors.affiliation: Division of Pediatric Cardiology, Dr. Behcet Uz Children's Hospital, Izmir, Turkey.
authors.forename: Cem
authors.initials: C
authors.lastname: Karadeniz
authors.affiliation: Department of Pediatric Cardiology, Istanbul Mehmet Akif Ersoy Thoracic and Cardiovascular Surgery Center and Research Hospital, Istanbul, Turkey.
authors.forename: Yakup
authors.initials: Y
authors.lastname: Ergul
authors.affiliation: Division of Endocrinology and Metabolism, Department of Internal Medicine, Dokuz Eylul University, Izmir, Turkey.
authors.forename: Tevfik
authors.initials: T
authors.lastname: Demir
authors.affiliation: Department of Cardiology, Dokuz Eylul University, Izmir, Turkey.
authors.forename: Emin Evren
authors.initials: EE
authors.lastname: Ozcan
authors.affiliation: Department of Radiology, Dokuz Eylul University, Izmir, Turkey.
authors.forename: Canan
authors.initials: C
authors.lastname: Altay
authors.affiliation: Division of Pediatric Genetics, Department of Pediatrics, Ege University, Izmir, Turkey.
authors.forename: Tahir
authors.initials: T
authors.lastname: Atik
authors.affiliation: Division of Nutrition and Metabolic Diseases, Center for Human Nutrition, Department of Internal Medicine, UT Southwestern Medical Center at Dallas, Dallas, TX, USA.
authors.forename: Abhimanyu
authors.initials: A
authors.lastname: Garg
mesh_terms: D000293:Adolescent; D001145:Arrhythmias, Cardiac / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D005260:Female; D006720:Homozygote; D006801:Humans; D007333:Insulin Resistance / Q000235:genetics*; D052497:Lipodystrophy, Congenital Generalized / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D009154:Mutation; D010375:Pedigree; D016601:RNA-Binding Proteins / Q000235:genetics*; D017180:Tachycardia, Ventricular / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D014421:Turkey; D000098850:Polymorphic Catecholaminergic Ventricular Tachycardia
chemical_list: C497835:CAVIN1 protein, human; D016601:RNA-Binding Proteins
keywords: Arrhythmia; Insulin resistance; Lipodystrophy; Myopathy; PTRF