Madelung lipomatosis presenting as a manifestation of myoclonic epilepsy with ragged red fibers (MERRF) syndrome

This is a unique case of a patient with a history of myoclonic epilepsy with ragged red fibers (MERRF) syndrome presenting with Madelung or multiple symmetric lipomatosis. We discuss the etiology of MERRF syndrome and its link with Madelung lipomatosis via a common mitochondrial mutation that can be present in both diseases. The appearance of Madelung lipomatosis should prompt physicians to search for other neural, muscular, and pulmonary findings that may lead to a diagnosis of MERRF syndrome.