De Potter M-J, Edouard T, Amadieu R, Plaisancié J, Julia S, Hadeed K, Hascoët S, Acar P, Dulac Y
Service de cardiologie pédiatrique, centre de compétence du syndrome de Marfan et des syndromes apparentés, hôpital des Enfants, CHU de Toulouse, 330, avenue de Grande-Bretagne, 31026 Toulouse cedex 3, France.
Service d'endocrinologie pédiatrique, centre de compétence du syndrome de Marfan et des syndromes apparentés, hôpital des Enfants, CHU de Toulouse, 330, avenue de Grande-Bretagne, 31026 Toulouse cedex 3, France.
Arch Pediatr. 2016 May;23(5):504-7. doi: 10.1016/j.arcped.2016.02.001. Epub 2016 Mar 24.
Loeys-Dietz syndrome is a rare form of connective tissue disorder, whose clinical features can resemble those of Marfan syndrome, but with a more unpolished appearance. Recently brought out, this pathology remains little known; however, its consequences may be dramatic. We report on the case of a 4-year-old girl followed for a congenital hip dislocation, in which a systematic exam found increased cutaneous elasticity and a bifid uvula, suggesting a connective tissue disorder. Symptoms were unpolished, as the child's height was normal, without any positive cardiac, rheumatological, or ophthalmological family history. Cardiovascular tests found a thoracic aortic aneurysm at the Valsalva sinus (26mm, Z-score=+4.24). A genetic investigation found a TGFβR2 gene mutation, leading to the diagnosis of Loeys-Dietz syndrome type 2. Skeletal damage associated with bifid uvula and/or hypertelorism and an aneurysm of the ascending aorta should guide the genetic investigation to the search for TGF-β vasculopathy such as Loeys-Dietz syndrome.
洛伊斯-迪茨综合征是一种罕见的结缔组织疾病，其临床特征可能与马凡综合征相似，但外观更为粗糙。这种病症最近才被发现，仍鲜为人知；然而，其后果可能很严重。我们报告了一名4岁女童的病例，该女童因先天性髋关节脱位前来就诊，在系统检查中发现皮肤弹性增加和悬雍垂裂，提示存在结缔组织疾病。症状并不典型，因为该女童身高正常，且无任何心脏、风湿或眼科方面的阳性家族史。心血管检查发现主动脉窦部有一个胸主动脉瘤（直径26mm，Z评分=+4.24）。基因检测发现了TGFβR2基因突变，从而确诊为2型洛伊斯-迪茨综合征。与悬雍垂裂和/或眼距增宽以及升主动脉瘤相关的骨骼损伤应引导基因检测，以寻找诸如洛伊斯-迪茨综合征之类的转化生长因子-β血管病变。
