A Case of MELAS Syndrome Presenting with Type 1 Diabetes Mellitus / 대한내과학회지
Korean Journal of Medicine
;
: 706-710, 2015.
Artículo
en Coreano
| WPRIM
| ID: wpr-155266
ABSTRACT
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome presents with various clinical features, including seizures, stroke-like episodes, encephalopathy, myopathy, cardiac involvement, and diabetes. However, due to its clinical heterogeneity, the diagnosis of MELAS syndrome is complex and difficult. The present report describes an 18-year-old male who was diagnosed with MELAS syndrome following the onset of type 1 diabetes. The patient had suffered from ataxia, mental retardation, and recurrent headaches for several years; following hospitalization for loss of consciousness, he was treated for cerebellar atrophy and Wolf-Parkinson-White (WPW) syndrome. Although the patient had no history of lactic acidosis, the recent onset of type 1 diabetes and his medical history of encephalopathy and WPW syndrome suggested MELAS syndrome. The diagnosis of MELAS syndrome was confirmed by molecular genetic testing, which revealed a point mutation (A3243G) in the patient's mitochondrial DNA.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Ataxia
/
Atrofia
/
Convulsiones
/
Inconsciencia
/
Síndrome de Wolff-Parkinson-White
/
Características de la Población
/
Acidosis Láctica
/
ADN Mitocondrial
/
Mutación Puntual
/
Síndrome MELAS
Tipo de estudio:
Estudio diagnóstico
Límite:
Adolescente
/
Humanos
/
Masculino
Idioma:
Coreano
Revista:
Korean Journal of Medicine
Año:
2015
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS