J Genet Med.  2013 Jun;10(1):47-51. 10.5734/JGM.2013.10.1.47.

Neurovascular Manifestation of Loeys-Dietz Syndrome: A Case Report

Affiliations
  • 1Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea. tsko@amc.seoul.kr
  • 2Department of Medical Genetics, Children's Hospital, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

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.

Keyword

Loeys-Dietz syndrome; Connective tissue disease; Arterial tortuosity; Transforming growth factor-beta receptor
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