Spectrum of clinical manifestations in two young Turkish patients with congenital generalized lipodystrophy type 4

Gulcin Akinci, Haluk Topaloglu, Baris Akinci, Huseyin Onay, Cem Karadeniz, Yakup Ergul, Tevfik Demir, Emin Evren Ozcan, Canan Altay, Tahir Atik, Abhimanyu Garg

Research output: Contribution to journalArticle

10 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)320-324
Number of pages5
JournalEuropean Journal of Medical Genetics
Volume59
Issue number6-7
DOIs
StatePublished - Jun 1 2016

Keywords

  • Arrhythmia
  • Insulin resistance
  • Lipodystrophy
  • Myopathy
  • PTRF

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Akinci, G., Topaloglu, H., Akinci, B., Onay, H., Karadeniz, C., Ergul, Y., Demir, T., Ozcan, E. E., Altay, C., Atik, T., & Garg, A. (2016). Spectrum of clinical manifestations in two young Turkish patients with congenital generalized lipodystrophy type 4. European Journal of Medical Genetics, 59(6-7), 320-324. https://doi.org/10.1016/j.ejmg.2016.05.001