Background: Ascending aortic aneurysms are rare pathologies in childhood, especially in the absence of previous diseases such as Marfan syndrome.
Objective: Present the possibility of successful endovascular management of large vessel aneurysms, using stents and microcatheters with embolization of the aneurysm sac.
Method: We present the case of a previously healthy ten-year-old patient, in whom a pseudoaneurysm was documented between the origin of the left common carotid artery and left subclavian artery, successfully managed endovascularly, initially with a stent covering the neck of the aneurysm to remodel it and later with embolization of the aneurysm sac using a microcatheter.
Background: Aneurysms and diverticula of the left ventricle are rare entities in childhood, with a prevalence of less than 0.1%. Described since 1886, as a severe and potentially fatal disease if not corrected, mainly due to the presence of associated anomalies and the risk of rupture.
View Article and Find Full Text PDFWAGR syndrome (Wilms tumor, aniridia, genitourinary anomalies and mental retardation) is an uncommon genetic disorder due to the deletion of the 11p13 region that contains the WT1 and PAX6 genes. It involves a distinctive combination of clinical conditions, with aniridia and Wilms tumor being the most notable. We present a 17-month-old infant with microcephaly, ocular alterations (buphthalmos, leukocoria, bilateral aniridia), scrotal hypoplasia, undescended testes and neurodevelopmental delay who underwent multiplex ligation-dependent probe amplification study for WT1, showing haploinsufficiency in the probes that hybridize to the 11p13 region, compatible with an heterozygous deletion of the gene.
View Article and Find Full Text PDFArrhythmogenic right ventricular cardiomyopathy/dysplasia is an inherited autosomal dominant disease, with an estimated prevalence of 1:2,500 to 1:5,000, being higher in males (3:1). It is characterised histologically by the substitution of cardiomyocytes for fibrous-adipose tissue, which predisposes to ventricular arrhythmias, right ventricular failure, and sudden cardiac death. The main aim of treatment is to reduce the risk of sudden death and improve the quality of life of patients.
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