Journal of Genetic Medicine

Korean Society of Medical Genetics and Genomics (대한의학유전학회)
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Neurovascular Manifestation of Loeys-Dietz Syndrome: A Case Report

  • Lee, Yun-Jeong (Department of Pediatrics, Children's Hospital, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Yum, Mi-Sun (Department of Pediatrics, Children's Hospital, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Kim, Eun-Hee (Department of Pediatrics, Children's Hospital, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Choi, Hae-Won (Department of Pediatrics, Children's Hospital, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Lee, Beom Hee (Department of Pediatrics, Children's Hospital, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Yoo, Han-Wook (Department of Pediatrics, Children's Hospital, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Ko, Tae-Sung (Department of Pediatrics, Children's Hospital, Asan Medical Center, University of Ulsan College of Medicine)
  • Received : 2013.05.25
  • Accepted : 2013.06.18
  • Published : 2013.06.30
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Abstract

Loeys-Dietz syndrome (LDS) is an autosomal dominant disorder caused by heterozygous mutations in the genes encoding transforming growth factor-${\beta}$ receptor type 1 or 2. It is typically characterized by a triad of hypertelorism, cleft palate or bifid uvula, and arterial tortuosity with aneurysm or dissection. Characteristic vascular abnormalities such as tortuosity, aneurysms, dissections, and stenosis are the most severe complications of LDS and can occur in the neurovascular system. We report a 5-year-old boy who presented with headaches and neurovascular abnormalities and was diagnosed with LDS with a novel mutation of the TGFBR1 gene. It is the first Korean report of neurovascular abnormalities in LDS.

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References

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