Abstract Details

Title Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome: frequency, clinical features, imaging, histopathologic and molecular genetic findings in a third-level healthcare center in Mexico.

Topic Neuromuscular and Clinical Neurophysiology (EMG)

Presentation(s) Neuromuscular and Clinical Neurophysiology (EMG) Posters (7:00 AM-5:00 PM)

Poster/Presentation
Number 134

Objective NA

Background Mitochondrial encephalomyopathy syndrome, lactic acidosis, and stroke-like episodes (MELAS) syndrome, is a multisystemic entity of mitochondrial inheritance. To date, there is no epidemiological information on MELAS syndrome in Mexico.

Design/Methods A retrospective, cross sectional design was employed to collect and analyze the data. The clinical records of patients with mitochondrial cytopathies in the period ranging from January 2018 to March 2020 were reviewed. Patients who met definitive Yatsuga diagnostic criteria for MELAS syndrome were included to describe frequency, clinical, imaging, histopathologic and molecular studies.

Results Of 56 patients diagnosed with mitochondrial cytopathy, 6 patients met definitive Yatsuga’s criterion for
MELAS (10.7%). The median age (years) at diagnosis was 34 (30-34), 2 females and the median time from onset of symptoms at diagnosis 3.5 years (1-10). The median of the number of stroke-like episodes before the diagnosis was 3 (2-3). The main findings in CT were basal ganglia calcifications (33%), while in magnetic resonance imaging (MRI) were a lactate peak in the spectroscopy sequence in 2 patients. Five patients (84%) had red ragged fibers and phantom fibers in the Cox stain in the muscle biopsy. Four patients (67%) had presence of 3243A>G mutation in the mitochondrial MT-TL1 gene. One patient died because of status epilepticus.

Conclusions MELAS syndrome represents a common diagnostic challenge for clinicians, often delaying definitive diagnosis. It should be suspected in young patients with stroke of undetermined etiology associated with other systemic and neurological features.

Authors/Disclosures
Javier A. Galnares-Olalde, Jr., MD (Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez) PRESENTER	Dr. Galnares-Olalde has nothing to disclose.
	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file
Maria Eugenia Briseño Godinez	No disclosure on file
	No disclosure on file
Elizabeth Leon	Elizabeth Leon has received personal compensation in the range of $0-$499 for serving on a Speakers Bureau for BIOGEN AND SANOFI.
	No disclosure on file

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Abstract Details