Neurovascular Manifestation of Loeys-Dietz Syndrome: A Case Report.
- Author:
Yun Jeong LEE
1
;
Mi Sun YUM
;
Eun Hee KIM
;
Hae Won CHOI
;
Beom Hee LEE
;
Han Wook YOO
;
Tae Sung KO
Author Information
- Publication Type:Case Report
- Keywords: Loeys-Dietz syndrome; Connective tissue disease; Arterial tortuosity; Transforming growth factor-beta receptor
- MeSH: Aneurysm; Arteries; Cleft Palate; Connective Tissue Diseases; Constriction, Pathologic; Headache; Hypertelorism; Joint Instability; Loeys-Dietz Syndrome; Skin Diseases, Genetic; Uvula; Vascular Malformations
- From:Journal of Genetic Medicine 2013;10(1):47-51
- CountryRepublic of Korea
- Language:English
- 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.
