Srpski arhiv za celokupno lekarstvo 2012 Volume 140, Issue 5-6, Pages: 355-358
https://doi.org/10.2298/SARH1206355P
Full text ( 250 KB)
Cited by
Mitochondrial myopathy, encephalopathy, lactate acidosis with stroke-like episodes syndrome (MELAS): A case report
Petrović Igor N. (Klinika za neurologiju, Klinički centar Srbije, Beograd + Medicinski fakultet, Beograd)
Mandić Gorana (Klinika za neurologiju, Klinički centar Srbije, Beograd + Medicinski fakultet, Beograd)
Svetel Marina (Klinika za neurologiju, Klinički centar Srbije, Beograd + Medicinski fakultet, Beograd)
Dragašević Nataša (Klinika za neurologiju, Klinički centar Srbije, Beograd + Medicinski fakultet, Beograd)
Lačković Vesna (Institut za histologiju i embriologiju, Medicinski fakultet, Beograd)
Kostić Vladimir S. (Klinika za neurologiju, Klinički centar Srbije, Beograd + Medicinski fakultet, Beograd)
Introduction. Mitochondrial encephalopathy, lactacidosis and stroke-like
episodes (MELAS) represent a multisystemic dysfunction due to various
mutations in mitochondrial DNA. Here we report a patient with genetically
confirmed MELAS. Case Outline. A patient is presented whose clinical features
involved short stature, easy tendency to fatigue, recurrent seizures,
progressive cognitive decline, myopathy, sensorineural deafness, diabetes
mellitus as well as stroke-like episodes. The major clinical feature of
migraine type headache was not present. Neuroimaging studies revealed signs
of ischemic infarctions localized in the posterior regions of the brain
cortex. Electron microscopy of the skeletal muscle biopsy showed
subsarcolemmal accumulation of a large number of mitochondria with
paracristal inclusions in the skeletal muscle cells. The diagnosis of MELAS
was definitively confirmed by the detection of a specific point mutation A to
G at nucleotide position 3243 of mitochondrial DNA. Conclusion. When a
relatively young patient without common risk factors for ischemic stroke
presents with signs of occipitally localized brain infarctions accompanied
with multisystemic dysfunction, MELAS syndrome, it is necessary to conduct
investigations in order to diagnose the disease.
Keywords: acute brain stroke, seizures, lactacidosis, MELAS