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

Akinci G., Topaloglu H., AKINCI B., Onay H., Karadeniz C., Ergul Y., ...Daha Fazla

EUROPEAN JOURNAL OF MEDICAL GENETICS, cilt.59, ss.320-324, 2016 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 59
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1016/j.ejmg.2016.05.001
  • Dergi Adı: EUROPEAN JOURNAL OF MEDICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.320-324
  • Anahtar Kelimeler: Arrhythmia, Lipodystrophy, Insulin resistance, Myopathy, PTRF, POLYMORPHIC VENTRICULAR-TACHYCARDIA, LATE SODIUM CURRENT, MUSCULAR-DYSTROPHY, PTRF MUTATIONS, CAVEOLIN-3, SECONDARY, CHANNELS, MUSCLE
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

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.