Episodios «stroke-like» en madre e hija portadoras de enfermedad de MELAS: reporte de 2 casos y revisión de la literatura

Abstract

Introduction

Mitochondrial diseases are maternally inherited, and the most prevalent is MELAS syndrome. The clinical features of the disease are myopathy, encephalopathy, seizures, lactic acidosis, and stroke-like episodes (SLEs). Its typical presentation is in young adults, adolescents and children, its debut in older adults being much rarer.

Clinical cases

We present clinical cases of 2 female patients, daughter and mother, aged 31 and 75, respectively. Both are short of stature and had hearing loss as a previously shared symptom. The first with debut in early adulthood characterized by several episodes that resembled a stroke, lactic acidosis and seizures; and the second with encephalopathy, and a SLE. Both with brain MRI that showed extensive lesions without respecting specific vascular territories and an evolution with subsequent imaging improvement. The youngest performed a genetic test that confirmed mitochondrial disease. His mother debuted later, so the diagnostic suspicion was directed to MELAS. To assess the consequences, neuropsychological tests were performed, both with evidence of showing minor (daughter) and major (mother) neurocognitive disorder.

Conclusion

MELAS syndrome should be suspected in patients with recurrent SLEs and images that subsequently resolve. We emphasize the foolishness of a high diagnostic suspicion, even in late presentations after the 6 th decade of life. Although there is no specific therapy, the disease can be controlled with amino acid supplementation and strict nutritional guidelines to avoid metabolic crises that exacerbate the condition. It should be considered that there is no proven treatment to stop the progression of the disease.