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http://dx.doi.org/10.5734/JGM.2013.10.1.47

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)
Publication Information
Journal of Genetic Medicine / v.10, no.1, 2013 , pp. 47-51 More about this Journal
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.
Keywords
Loeys-Dietz syndrome; Connective tissue disease; Arterial tortuosity; Transforming growth factor-${\beta}$ receptor;
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1 Kalra VB, Gilbert JW, Malhotra A. Loeys-Dietz syndrome: cardiovascular, neuroradiological and musculoskeletal imaging findings. Pediatr Radiol 2011;41:1495-504; quiz 1616.   DOI
2 Loeys BL, Chen J, Neptune ER, Judge DP, Podowski M, Holm T, et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2 . Nat Genet 2005;37:275-81.   DOI
3 Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med 2006;355:788-98.   DOI
4 Williams JA, Loeys BL, Nwakanma LU, Dietz HC, Spevak PJ, Patel ND, et al. Early surgical experience with Loeys-Dietz: a new syndrome of aggressive thoracic aortic aneurysm disease. Ann Thorac Surg 2007;83: S757-63; discussion S785-90.   DOI
5 Kilic E, Alanay Y, Utine E, Ozgen-Mocan B, Robinson PN, Boduroğlu K. Arterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p.R537P in the TGFBR2 gene. Turk J Pediatr 2012;54:198-202.
6 Rodrigues VJ, Elsayed S, Loeys BL, Dietz HC, Yousem DM. Neuroradiologic manifestations of Loeys-Dietz syndrome type 1. AJNR Am J Neuroradiol 2009;30:1614-9.   DOI
7 Van Hemelrijk C, Renard M, Loeys B. The Loeys-Dietz syndrome: an update for the clinician. Curr Opin Cardiol 2010;25:546-51.   DOI
8 Rodriguez-Catarino M, Frisén L, Wikholm G, Elfverson J, Quiding L, Svendsen P. Internal carotid artery aneurysms, cranial nerve dysfunction and headache: the role of deformation and pulsation. Neuroradiology 2003;45:236-40.   DOI
9 Lindsay ME, Schepers D, Bolar NA, Doyle JJ, Gallo E, Fert-Bober J, et al. Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. Nat Genet 2012;44:922-7.   DOI
10 Zanotti G, Vricella L, Cameron D. Thoracic aortic aneurysm syndrome in children. Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu 2008:11-21.
11 Brown RD. Unruptured intracranial aneurysms. Semin Neurol 2010;30: 537-44.   DOI
12 Valenca MM, Andrade-Valenca LP, Martins C, de Fatima Vasco Aragao M, Batista LL, Peres MF, et al. Cluster headache and intracranial aneurysm. J Headache Pain 2007;8:277-82.   DOI