ABSTRACT
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 TGFßR2 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-ß vasculopathy such as Loeys-Dietz syndrome.
Subject(s)
Loeys-Dietz Syndrome/diagnosis , Loeys-Dietz Syndrome/genetics , Mutation , Protein Serine-Threonine Kinases/genetics , Receptors, Transforming Growth Factor beta/genetics , Uvula/abnormalities , Aortic Aneurysm, Thoracic/genetics , Biomarkers/metabolism , Child, Preschool , Diagnosis, Differential , Female , Funnel Chest/genetics , Hip Dislocation, Congenital/genetics , Humans , Predictive Value of Tests , Receptor, Transforming Growth Factor-beta Type II , Sensitivity and SpecificityABSTRACT
Bacterial endocarditis is rare in children. We report the case of streptococcal B endocarditis in a newborn whose mother had asymptomatic bacteriuria during pregnancy. This report emphasizes the importance of maternal intrapartum antibiotic therapy when there is a major risk of neonatal infection and underlines the diagnostic value of echocardiography in case of prolonged fever.