[l-arginine efficiency in MELAS syndrome. A case report].
BACKGROUND
Mitochondrial encephalomyopathy lactic acidosis and stoke-like episodes (MELAS) is a rare neurodegenerative disease caused by mutations of mitochondrial DNA.


METHODS
We report the case of a 12-year-old child with MELAS syndrome who presented with recurrent migraine-like headache and sudden blindness suggesting stroke-like episodes. Furthermore, he developed progressive muscular impairment with bilateral hearing loss. Serum lactate and pyruvate levels were elevated and the muscle biopsy showed an aspect of red-ragged fibers with Gomori trichrome. Brain imaging showed calcifications of basal ganglia on the CT scan and a parieto-occipital high signal on diffusion-weighted MRI. A genetic analysis was not performed but the presence of hearing loss in the patient's mother was suggestive of maternal transmission. Stroke-like episodes in the form of migraine-like headache and blindness were the patient's major complaint and did not improve despite analgesic drugs. After oral administration of l-arginine at the dose of 0.4mg/kg per day, stroke-like symptoms totally and rapidly disappeared.


CONCLUSIONS
The efficiency of l-arginine in stroke-like episodes was initially reported then confirmed in a controlled study. The pathophysiology of stoke-like episodes and the mechanisms underlying the action of l-arginine are discussed.
Moutaouakil
F
F
Service de neurologie, hôpital Al Kortobi, Tanger, Maroc. mfettouma@hotmail.com <mfettouma@hotmail.com>
El Otmani
H
H
Fadel
H
H
Sefrioui
F
F
Slassi
I
I
D001120:Arginine / Q000627:therapeutic use*; D001706:Biopsy; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D002114:Calcinosis / Q000473:pathology; D002648:Child; D018450:Disease Progression; D006801:Humans; D007773:Lactates / Q000097:blood; D017241:MELAS Syndrome / Q000097:blood / Q000188:drug therapy* / Q000473:pathology / Q000503:physiopathology; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D011773:Pyruvates / Q000097:blood; D014057:Tomography, X-Ray Computed
D007773:Lactates; D011773:Pyruvates; D001120:Arginine
La l-arginine, une thérapeutique symptomatique efficace au cours d'un syndrome MELAS.