Vargas DJ, Garófalo GN, Novoa LL, Hernández DZ, Barroso GE

Language: Spanish
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ABSTRACT

Introduction: mitochondrial cytopathies are a group of diseases which are rarely diagnosed at pediatric ages. Among the group of mitochondrial disorders, the most frequent are mitochondrial encephalopathy, lactic acidosis and strokelike events (known as MELAS).
Clinical case: a male patient aged 15 years was diagnosed at 2 years of age with intestinal malabsorption syndrome; protein-energy malnutrition in the form of nutritional marasmus, low height for his age as well as easy tiredness. He began progressively feeling headache in the left hemibrain and episodes of amaurosis fugax. After intensive sports activity, the adolescent presented with amaurosis, diarreas, vomiting, fever and headache. During his hospitalization, he also suffered mental confusion and focal seizures that led to right hemiparesia for 15 minutes, being confused, with difficulties in speaking and evident intelectual deterioration. The tests showed increased level of lactic acid in serum and cerebrospinal fluid, increased level of creatine phosphokinase whereas the muscle biopsy revealed the presence of torn red fibers. The imaging studies with brain computer tomography and brain magnetic resonance (mainly in fluid-attenuated inversión recovery sequences with T2 technique) showed hyperintensive images seen in left temporal, occipital and posterior parietal lobes, which did not match an specific vascular zone, as well as hyperintensity at the level of ipsilateral pulvinar (pulvinar sign) and symmetric calcifications in the form of bands and located in the basal ganglia.
Conclusions: the multisystemic clinical compromiso of this patient as well as the lab and imaging results are consistent with the diagnosis of MELAS.