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1.
Arch Pediatr ; 23(5): 504-7, 2016 May.
Article in French | MEDLINE | ID: mdl-27017362

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 Specificity
2.
Arch Pediatr ; 22(1): 75-80, 2015 Jan.
Article in French | MEDLINE | ID: mdl-25435273

ABSTRACT

Pulmonary arteriovenous fistulas are abnormal vessels joining the right pulmonary artery to the pulmonary veins. They lead to an extracardiac right-to-left shunt with refractory hypoxemia. We report the case of a 7-year-old girl with a large pulmonary arteriovenous fistula discovered with refractory hypoxemia diagnosed during general anesthesia for adenoidectomy. Radio-opacity was observed on the upper lobe of the right lung. The diagnosis was made using thoracic angiotomography. The proximal arterial vessel arose from the lobar pulmonary artery. The fistula had developed in the entire right upper lobe and drained into two veins flowing into the right superior pulmonary artery. Given the marked hypoxemia, the potential risks of pulmonary hemorrhage and pulmonary infection, an occlusion of the fistula was indicated. After discussion between surgeons and interventional cardiologists, catheterization was indicated. The occlusion of the fistula was successful at the second attempt after release of a vascular plug in the main proximal vessel. This case illustrates the clinical circumstances of diagnosis of arteriovenous fistula, the diagnostic algorithm for refractory hypoxemia and the therapeutic options, with discussion of the benefits and drawbacks of a catheterization procedure.


Subject(s)
Arteriovenous Fistula/complications , Arteriovenous Fistula/therapy , Embolization, Therapeutic , Hypoxia/etiology , Pulmonary Artery/abnormalities , Pulmonary Veins/abnormalities , Child , Female , Humans , Hypoxia/therapy
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