Pulmonary manifestations in a patient with transaldolase deficiency.

Transaldolase deficiency is a newly recognized metabolic disorder. It is an autosomal recessive genetic disease (OMIM #606003). The effects of the defect in the TALDO gene are pleiotropic with a clinical presentation of growth retardation, dysmorphic features, cutis laxa, congenital heart disease, hepatosplenomegaly, pancytopenia, and bleeding tendencies.

Transcatheter closure of patent ductus arteriosus in infantile form of Scimitar syndrome with a type II Amplatzer Ductal Occluder.

We report a unique case of infantile form of Scimitar syndrome with a patent ductus arteriosus and pulmonary hypertension. The PDA was closed percutaneously using the new Amplatzer Ductal Occluder device type II.