MELAS syndrome: imaging and proton MR spectroscopic findings

Abstract

Purpose: To evaluate imaging findings in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, strokes) syndrome for the presence and location of infarctions and the presence of lactate.

Methods: Eight patients were studied with MR (n = 8) and CT (n = 2). One patient underwent single-photon emission CT with technetium 99m hexamethyl-propyleneamine oxime and one patient had conventional catheter angiography. One fixed brain was studied with MR imaging. Five patients underwent single volume proton MR spectroscopy. Imaging studies were evaluated for atrophy, edema, and infarctions. Proton MR spectroscopy was visually analyzed for presence or absence of lactate.

Results: One patient showed a cerebral infarction, and later a second distant infarction developed. One patient showed a transient area of cortical edema. Two patients had small nonspecific periventricular white matter abnormalities and one patient had diffuse white matter hyperintensities. Two patients had nonspecific MR abnormalities (probably age-related changes), and two had normal MR findings. None had basal ganglia involvement. Proton MR spectroscopy showed presence of lactate in one case with transient cortical edema; in two cases with nonspecific (probably age-related) brain findings; and in two patients with normal MR findings.

Conclusions: Patients with MELAS have a variety of MR findings. The fact that proton MR spectroscopy showed lactate in all five cases studied, regardless of MR findings, indicates that proton MR spectroscopy may be more sensitive in the detection of MELAS-associated abnormalities than MR imaging.