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Quantitative ¹H MR spectroscopic imaging in early Rett syndrome

From the Department of Radiology (Drs. Horská, Herskovits, Wang, and Barker); the Departments of Pathology, Neurology, Pediatrics, and Psychiatry (Dr. Kaufmann), Johns Hopkins University, School of Medicine; and the Neurogenetics Unit (Dr. Naidu), Kennedy Krieger Institute; Baltimore, MD

Address correspondence and reprint requests to Dr. Alena Horská, Johns Hopkins University, Department of Radiology, 217 Traylor Building, 720 Rutland Avenue, Baltimore, MD 21205; e-mail: ahorska{at}mri.jhu.edu

OBJECTIVE: To determine cerebral regional concentrations of N-acetyl aspartate (NAA), total choline (Cho), and total creatine (Cr) in Rett syndrome (RS) using ¹H magnetic resonance spectroscopic imaging (MRSI).

BACKGROUND: The biochemical defect underlying RS is unknown. Because in vivo MRSI can detect important cerebral metabolites, MRSI has a potential to reveal impairment of regional cerebral metabolism in RS noninvasively.

METHODS: High-resolution, multislice ¹H MRSI was carried out in 17 girls with RS. The control group consisted of nine healthy children.

RESULTS: In patients with RS, average Cho concentration was 12% higher (p < 0.005) and average NAA concentration 11% lower (p < 0.0001) compared with the control group. Regional metabolic differences included significantly lower NAA concentration in the frontal gray and white matter, insula, and hippocampus in RS; no difference in regional Cho and Cr concentrations were found. A 20 to 38% higher Cho:NAA ratio in frontal and parietal gray and white matter, insular gray matter, and hippocampus (p < 0.05) and a 14 to 47% lower NAA:Cr ratio in frontal cortical gray matter, parietal and temporal white matter, insula, and putamen (p < 0.05) were found in subjects with RS compared with controls. Patients with seizures had higher average concentrations of Cho, Cr, and NAA compared with those without seizures (8–19%, p < 0.05).

CONCLUSION: Metabolic impairment in RS involves both gray and white matter and particularly involves frontal and parietal lobes and the insular cortex. Loss of NAA most likely reflects reduced neuronal and dendritic tree size; increased Cho concentration may result from gliosis.

Key words: Rett syndrome—Brain metabolism—Magnetic resonance spectroscopy

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