Neurological and non-neurological complications in adult-onset “Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis and Stroke-like episodes” syndrome: a diagnostic challenge for internal medicine. A narrative review
Complicaciones neurológicas y no neurológicas en el síndrome de «Miopatía mitocondrial, encefalopatía, acidosis láctica y episodios similares a ictus» de inicio en la edad adulta: un reto diagnóstico para la medicina interna. Revisión narrativa
Mario Díaz Sepúlveda, Felipe Núñez Andia, Gustavo Moreira Guilquiruca, Felipe Ahumada Meneses, Emilia Durán Roco, Cristian Melian Araneda
Abstract
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode (MELAS) syndrome is a rare genetic mitochondrial disease. Children are the most affected, but this syndrome can manifest at any age. The mA3243G is the most common mutation related to MELAS syndrome. Neurological complications are more frequently discussed in literature. However, it is imperative to address and discuss the non-neurological manifestations so that clinicians do not inadvertently overlook this disease. These are more common in adult patients and may appear before neurological symptoms.
We conducted a narrative review of articles published between 2012 and 2024, with particular focus on on non-neurological disorders of MELAS syndrome.
We found 657 papers related to MELAS syndrome. Only 31 papers discussed non-neurological complications. We divided those into cardiovascular, endocrinological, digestive, renal, and nutritional symptoms. The most prevalent disorders include hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, chronic renal disease, intestinal pseudo-obstruction syndrome and malnutrition.
The authors of this narrative review seek to shine light on non-neurological manifestations of MELAS syndrome. These are rarely described in the medical literature, despite their potentially significant clinical implications, especially in adult patients. Understanding the neurological and non-neurological complications associated with MELAS syndrome is essential for achieving a timely and definitive diagnosis.
Keywords
Resumen
El síndrome de “miopatía mitocondrial, encefalopatía, acidosis láctica y episodio similar a un ictus” (síndrome MELAS, del inglés: “Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode”) es una enfermedad poco frecuente, de causa genética, que afecta al funcionamiento de la cadena respiratoria mitocondrial. Los niños son los más afectados, pero este síndrome puede comenzar a cualquier edad. La mA3243G es la mutación puntual más frecuentemente relacionada al síndrome MELAS. Los trastornos neurológicos son los más característicos, especialmente los episodios similares al ictus. Sin embargo, los trastornos no neurológicos, comunes en pacientes adultos, pueden aparecer antes de los síntomas típicos.
Se realizó una revisión narrativa de los artículos publicados entre 2012 y 2024, centrándose en los trastornos no neurológicos del síndrome MELAS. Los trastornos neurológicos también fueron comentados en el artículo.
Se encontraron 657 publicaciones relacionadas con el síndrome MELAS. Solo 31 artículos se refirieron a complicaciones no neurológicas, las que dividimos en síntomas cardiovasculares, endocrinológicos, digestivos, renales y nutricionales. Los trastornos más comunes incluyen miocardiopatía hipertrófica, síndrome de Wolff-Parkinson-White, enfermedad renal crónica, síndrome de pseudo-obstrucción intestinal y desnutrición.
En conclusión, las complicaciones no neurológicas son frecuentes de observar en pacientes adultos que padecen el síndrome MELAS, pero son poco conocidas. Conjugar estos trastornos con las complicaciones neurológicas de esta enfermedad, son claves para lograr un diagnóstico definitivo.
Palabras clave
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Submitted date:
02/18/2025
Reviewed date:
07/01/2025
Accepted date:
08/01/2025
Publication date:
08/02/2025
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