Abstract
Introduction: Mitochondrial myopathy, encephalopathy, lactic
acidosis, and stroke-like episodes (MELAS) is the most common
maternally-inherited mitochondrial disorder presenting by stroke-like
episodes, seizures, encephalopathy and muscle weakness.
Methods: We report the clinical, imaging, echocardiography and
muscle biopsy findings of a patient presenting by unique characteristics
which have not been reported in previous cases of MELAS.
Results: The reported case is a 34 year old man with the
history of three times hospitalization due to muscle weakness,
encephalopathy, progressive cognitive decline and gradual visual loss.
Muscle biopsy revealed Ragged Red Fibers concomitant with mitochondrial
disorders. PFO was found in echocardiography leading to mismanagement of
this patient and MR imaging showed ischemic lesions with a progressive
pattern.
Discussion: This is the first reported case of MELAS
accompanying with PFO. All previous reported cases of MELAS have
mentioned a fluctuating characteristic for the ischemic lesions; hence
this is the first case of MELAS with the progressive pattern of ischemic
lesions.
Key Words: MELAS, mitochondrial disease, muscle biopsy,
clinical features