A Mitochondrial Disorder in a Middle Age Iranian Patient: Report of a Rare Case

Abstract

Introduction:Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) can involve multiple systems and cause stroke-like episodes and status epilepticus.Case Presentation:A 48-year-old female with history of early fatigability, migraine-type headaches, and bilateral sensory-neural hearing loss presented 3 episodes of serial seizures. On admission she was affected by Wernicke aphasia and, then, right hemiparesis. Investigations showed elevated arterial lactate and ragged red fibers on muscle biopsy.Conclusion:Though more commonly diagnosed during childhood, some cases of adult-onset MELAS syndrome are reported. This syndrome should be considered in patients with stroke-like events in adults without cerebrovascular risk factors and difficult-to-treat seizures.

Stroke in MELAS is a Vasogenic Edema and not Ischemic

“…We do not agree with the statement that stroke in ME-LAS is ischemic (Almasi et al, 2017). In the acute stage, Stroke-Like Lesions (SLLs) on Magnetic Resonance Imaging (MRI), the imaging equivalent of a Stroke-Like Episode (SLE), show up as hyperintensity on Diffusion-Weighted Imaging (DWI) and mostly as hyperintensity on Apparent Diffusion Coefficient (ADC) maps (El-Hattab et al, 2001).…”

“…We read with interest the article by Alma-si et al on a 48 years old female patient with Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-like episodes (MELAS), diagnosed based on the clinical presentation, blood test results, and imaging and muscle biopsy findings ( Almasi et al, 2017 ). We have the following comments and concerns.…”

“…As mentioned by the authors, in general, MELAS and Mitochondrial Disorders (MIDs) are considered as multisystem diseases ( Finsterer, 2017 ). The patient obviously manifested with SLEs, seizures, migraine, easy fatigability, lactic acidosis, anemia, and hypoacusis ( Almasi et al, 2017 ). However, in some MELAS patients, additional phenotypic features have been reported, such as short stature, confusion, cognitive impairment, dementia, basal ganglia calcification, ptosis, ophthalmoparesis, visual disturbance, gastrointestinal problems (vomiting and volvulus), renal insufficiency, or neuropathy ( Finsterer, & Frank, 2015 ).…”