Adenocarcinoma arising in a rectal duplication cyst with distant metastasis A case report and a review of the recent literature.

Introduction: Rectal duplication cysts are rare cystic lesions, arising from the hindgut and classified as congenital/developmental tumors of the presacral space. Their clinical presentation is nonspecific, the diagnosis remains difficult and their management is aided by a multidisciplinary evaluation.

Case Report: We report the case of a 55-year-old woman with a cystic mass located in the retrorectal space and identified incidentally on a CT scan.

Intragenic multi-exon deletion in the FBN1 gene in a child with mildly dilated aortic sinus: a retrotransposal event.

Marfan syndrome is an autosomal dominant disorder affecting mainly the skeletal, ocular and cardiovascular systems. Most cases are caused by mutations in the fibrillin-1 gene (FBN1), although there are some reports on deletions involving FBN1 and other additional genes. We report a male patient who was first evaluated at 4 years of age.