Radionuclide Evaluation of a Patient with Neonatal Presentation of Pompe??s Disease

Abstract

Pompe's disease (glycogen storage disease type IIA) is a rare autosomal recessive metabolic disorder involving skeletal and heart muscle. A neonate in whom the diagnosis of Pompe's disease was suspected, was evaluated using Tc-99m RBC and TI-201 scintigraphy. A skeletal muscle biopsy specimen that showed lack of lysosomal alpha 1,4 glycosidase confirmed the diagnosis. To the best of the authors' knowledge, this is the youngest patient with Pompe's disease in whom radionuclide evaluation was performed.