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Acta pediátrica de México

On-line version ISSN 2395-8235Print version ISSN 0186-2391

Abstract

GARCIA-BERISTAIN, JC  and  BARRAGAN-PEREZ, EJ. Mutation m.3271T > C in the MT- TL1 gene in Mitochondrial Encephalopathy, Lactic Acidosis and Stroke Like Episodes (MELAS) in pediatric age. Case report. Acta pediatr. Méx [online]. 2017, vol.38, n.3, pp.165-174. ISSN 2395-8235.  http://dx.doi.org/10.18233/apm38no3pp165-1741388.

INTRODUCTION:

Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes (MELAS) is a rare metabolic disease that usually presents with seizures and stroke-like episodes in young people. It been determined that 7 to 15% of patients with MELAS have transitions T to C at nucleotide position 3271 (T3271C). Most patients reported with this association are of Japanese origin. Altered mental status and schizophrenia can sometimes precede or accompany stroke-like episodes in MELAS; they can be found even in families affected by the same mutation T3271C. Children with MELAS have a wide range of clinical presentations, which are predominant Stroke-like episodes.

OBJECTIVE:

To describe the clinical findings related to m.3271 > C mutation of the MT- TL1 gene in MELAS syndrome in this pediatric case.

CLINICAL CASE:

A case of an 11 years old female who presents clinical evidence of Cerebral Vascular Accident (CVA) with visual manifestation followed by hemodynamic deterioration, severe shock whit hyperlactatemia and acid-base imbalance. It was determined that there was mutation m.3271T> C heteroplasmy in the MT-TL1 gene compatible with MELAS.

CONCLUSIONS:

We believe that patients with stroke, abnormal acid-base and severe hiperlactatemia could lead to hemodynamic instability or shock, in direct relation with this mutation. Therefore these patients must be immediately studied to make the suspected diagnosis. The study must include molecular confirmation before the condition become aggressive and progressive.

Keywords : MELAS; encephalopaty; genetic; stroke; mutation; acidosis; m.3271T>C; gene.

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