MELAS pearls

maternal , mitochondrial dna a3243g

1. Onset before 40
2. Clinical: hemiparesis, hemianopia, cortical blindness; seizures, dementia, migraine, muscle weakness,
3. Associated
Short stature
Hearing loss
Recurrent vomiting
Diabetes
cataracts
developmental delay , cognitive delay AFTER infancy
4. May be relapsing remitting
5. High lactic/abn muscle biopsy
6. AVOID statins and Depakote


MRI parietal-occipital, parietal temporal acute strokes
MRS lactate peak
CSF increased lactate, pyruvate and amino acids
depletes NAD+, NADH+
increases anaerobic metabolism
increases lactic acidosis

progressive strokes and vision loss before age 40
presents in childhood
dx muscle biopsy ragged red fibers on Gomori stain

Rx CoQ
carnitine
L-Arginine
B vitamins
AED's but not depakote