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2013, Number 3

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Rev Endocrinol Nutr 2013; 21 (3)

MELAS: a number of cases from the Hospital Civil de Guadalajara «Fray Antonio Alcalde»

Muñoz-Nevárez LA, Martín-Nares E, Ontiveros-Mercado H, Alvarado-Verduzco H, Valerdi-Contreras L, Ramírez-Guzmán MG

Language: Spanish
References: 46
Page: 138-147
PDF size: 560.97 Kb.


ABSTRACT

Introduction: MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like events) is a clinical entity that takes part in the group of mitochondrial diseases, disorders characterized by mitochondrial DNA mutations that cause dysfunction in the respiratory transport chain and oxidative stress in multiple organs and systems, primarily the central nervous system (CNS) and the muscle. MELAS exhibits a maternal pattern of inheritance, involving the m.3243A›G mutation in about 80% of all cases. It usually manifests during childhood and in young adults, most commonly with a relapsing-remitting course with seizures, headache, and stroke-like events that generate acute neurological deficits (of one or several brain domains) that lead to progressive neurologic dysfunction and dementia. Objective: The following is a series of three patients in whom a diagnosis of MELAS was established during hospitalization in the Internal Medicine department of our hospital. Conclusion: Originally described in 1984 as a case report of two patients with short stature, hearing loss, seizures, acute neurological deficits, psychomotor agitation and elevated lactate with ragged red fibers in muscle biopsy, MELAS was considered a rare condition; however, current evidence suggests that mitochondrial disorders are common in the world’s population; for this reason, we recommend to consider MELAS as part of the differential diagnosis of stroke in young adults.


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