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Type:
Educational Exhibit
Keywords:
Imaging sequences, MR-Spectroscopy, MR-Diffusion/Perfusion, MR, Neuroradiology brain, CNS, Molecular imaging, Metabolic disorders
Authors:
N. Rojo Sanchis1, M. R. Cambra Marti1, A. Marin Canete2, A. M. Sanchez Laforga1; 1Sant Boi de Llobregat/ES, 2Rubi/ES
DOI:
10.1594/ecr2017/C-0241
Background
MELAS syndrome (Mitochondrial encephalomyopathy,
lactic acidosis,
stroke-like episodes) was first described by Pavlakis in 1984.
It is characterized by errors in cell metabolism caused by mutations in nuclear genes,
as well as a defective mitochondrial oxidative phosphorylation.
The pathophysiology of the disease is uncertain although have been proposed several hypotheses regarding the stroke-like episodes:
- Vascular ischemia mechanism hypothesis: supports the theory of mitochondrial angiopathy.
- Generalized cytopathic neurovascular mechanism and nonischemic cellular mechanism hypothesis: support the theory of mitochondrial cytopathy.
MELAS's clinical presentation is highly variable and usually manifests before 40's: headaches,
vomiting,
seizures,
muscle weakness,
fatigue,
sensorineural hearing loss,
short stature,
diabetes and episodes of neurological deficits.
It has a grim prognosis with progressive neurological deficits and eventually death.