[Arreflexic coma and MELAS syndrome].
MELAS is a progressive neurodegenerative and fatal disease characterized by mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes. It is the result of a mitochondrial DNA mutation. Although the incidence of MELAS is currently unknown, it is suspected that approximately 1 out of every 5,000 persons world-wide have some type of defect in mitochondrial DNA. Cardinal clinical features observed in more than 90% of the patients include severe headache that may be associated with stroke-like episodes, seizures and the onset of symptoms before the age of 40 years. Diagnosis is established through genetic test or by with muscle biopsies that reveal the presence of ragged-red fibers. Prognosis is poor, with death at an early age. In this article, we present the clinical case of a 31-year old women diagnosed of MELAS syndrome who was admitted to the Intensive Care Unit of our hospital with arreflexic coma.
Muñoz-Guillén
N
N
Servicio de Medicina Intensiva, Hospital Universitario Reina Sofía, Córdoba, España. webnoelia9@mixmail.com
León-López
R
R
Ferrer-Higueras
M J
MJ
Vargas-Vaserot
F J
FJ
Dueñas-Jurado
J M
JM
D000140:Acidosis, Lactic / Q000175:diagnosis; D000293:Adolescent; D000328:Adult; D001479:Basal Ganglia / Q000000981:diagnostic imaging / Q000473:pathology; D003128:Coma / Q000209:etiology*; D036386:Ephrin-A5; D005260:Female; D006801:Humans; D017241:MELAS Syndrome / Q000150:complications / Q000175:diagnosis / Q000000981:diagnostic imaging; D008279:Magnetic Resonance Imaging; D008297:Male; D017240:Mitochondrial Myopathies / Q000175:diagnosis; D011379:Prognosis; D014057:Tomography, X-Ray Computed
D036386:Ephrin-A5