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Proton magnetic resonance spectroscopic imaging in childhood ataxia with diffuse central nervous system hypomyelination

From the Neuroimaging Branch (Drs. Tedeschi, Alger, and Di Chiro) and the Developmental and Metabolic Neurology Branch (Drs. Schiffmann, Barton, and Brady), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Department of Radiological Sciences (Dr. Shih), University of California, Los Angeles, CA; and Departments of Neurology and Pediatrics (Dr. Gospe), University of California, Davis, CA.
Received October 3, 1994. Accepted in final form January 9, 1995.
Address correspondence and reprint requests to Dr. Gioacchino Tedeschi, National Institutes of Health, Building 10, Room 1C451, 9000 Rockville Pike, Bethesda, MD 20892.

The spatial distribution of metabolite signal intensities can be measured within entire sections of the brain by proton magnetic resonance spectroscopic imaging (¹) H-MRSI). A group of six patients (4 unrelated girls and 2 brothers from 5 families) with childhood ataxia with diffuse CNS hypomyelination (CACH) underwent long-echo-time, single-slice¹ H-MRSI. Relative to controls, there was a decrease in the signal intensity of N-acetylaspartate, choline, and creatine throughout the white matter in all six patients. We identified lactate signals in white matter in three of them with advanced disease. The degree of white matter involvement was not homogeneous over the entire patient group, but did correlate with clinical presentation. Deep and posterior white matter tended to be more involved. There were no¹ H-MRSI abnormalities in the gray matter.¹ H-MRSI findings suggest that this syndrome is secondary to a metabolic defect causing hypomyelination, axonal degeneration, and, in the most compromised cases, accumulation of lactate. This study shows that CACH is not limited to girls.

NEUROLOGY 1995;45: 1526-1532

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