Late-onset mitochondrial encephalopathy with lactic acidosis and stroke-like episodes and the role of serial imaging.
BMJ Case Rep
; 17(2)2024 Feb 27.
Article
en En
| MEDLINE
| ID: mdl-38417938
ABSTRACT
Mitochondria are essential for human metabolic function. Over 350 genetic mutations are associated with mitochondrial diseases, which are inherited in a matrilineal fashion. In mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS), defective mitochondrial function and resultant impaired cellular energy production compromise vascular perfusion in affected tissues. Early diagnostic criteria suggested the diagnosis should be considered in those under 40. However, a broader range of phenotypes are now recognised, including those that present for the first time later in life. The primary presenting feature in MELAS is a stroke-like episode invariably resulting in patients undergoing neuroradiological imaging. We present a case of a woman with a first presentation of a stroke-like episode and seizures in her 40s who was eventually diagnosed with MELAS. We detail her clinical presentation, treatment and diagnosis, emphasising the role of serial imaging in her diagnosis.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Acidosis Láctica
/
Encefalomiopatías Mitocondriales
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Síndrome MELAS
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Accidente Cerebrovascular
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Enfermedades Mitocondriales
Límite:
Female
/
Humans
Idioma:
En
Revista:
BMJ Case Rep
Año:
2024
Tipo del documento:
Article
Pais de publicación:
Reino Unido