Brain glucose metabolism in Rett Syndrome

Villemagne, Patricia M; Naidu, Sakkubai; Villemagne, Victor L; Yaster, Myron; Wagner, Henry N; Harris, James C; Moser, Hugo W; Johnston, Michael V; Dannals, Robert F; Wong, Dean F

« Previous Next »Pediatric Neurology
Volume 27, Issue 2 , Pages 117-122, August 2002

Brain glucose metabolism in Rett Syndrome

Patricia M Villemagne, MD
- Department of Radiology, Johns Hopkins Medical Institutions; Baltimore, Maryland, USA
Sakkubai Naidu, MD
- Kennedy Krieger Institute, Johns Hopkins Medical Institutions; Baltimore, Maryland, USA
Victor L Villemagne, MD
- Department of Radiology, Johns Hopkins Medical Institutions; Baltimore, Maryland, USA
Myron Yaster, MD
- Department of Anesthesiology; Johns Hopkins Medical Institutions; Baltimore, Maryland, USA
Henry N Wagner Jr, MD
- Department of Radiology, Johns Hopkins Medical Institutions; Baltimore, Maryland, USA
James C Harris, MD
- Kennedy Krieger Institute, Johns Hopkins Medical Institutions; Baltimore, Maryland, USA
Hugo W Moser, MD
- Kennedy Krieger Institute, Johns Hopkins Medical Institutions; Baltimore, Maryland, USA
Michael V Johnston, MD
- Kennedy Krieger Institute, Johns Hopkins Medical Institutions; Baltimore, Maryland, USA
Robert F Dannals, PhD
- Department of Radiology, Johns Hopkins Medical Institutions; Baltimore, Maryland, USA
Dean F Wong, MD, PhD
- Department of Radiology, Johns Hopkins Medical Institutions; Baltimore, Maryland, USA
- Communications should be addressed to: Dr. Wong; JHOC Research Room 3245; Johns Hopkins Medical Institutions; 601 North Caroline Street; Baltimore, MD 21287-0807, USA.

Received 29 June 2001; accepted 14 February 2002.

Abstract

Rett syndrome is a progressive neurologic disorder affecting girls in early childhood with loss of achieved psychomotor abilities and mental retardation. Six sedated female patients (4 to 15 years of age) with a diagnosis of Rett syndrome were studied with [¹⁸F]fluorodeoxyglucose (FDG) and underwent positron emission tomography scanning of the brain. Relative tracer concentrations between different areas of the brain were assessed, and results were compared with 18 age-matched control subjects. Patients were divided into two age groups: 3 to 8 years of age and 9 to 15 years of age. A relative decrease in [¹⁸F]FDG uptake in the lateral occipital areas in relation with the whole brain and a relative increase in the cerebellum was evident in both age groups (P < 0.001, unpaired Student t test). A relative increase in frontal tracer uptake was observed in the younger group. Sensorimotor areas and relations between cortical and subcortical structures were preserved in all patients. Changes in glucose cerebral metabolism resemble the regional distribution of normal children less than 1 year of age, likely reflecting a maturational arrest. Changes in frontal areas parallel those in postmortem N-methyl-d-aspartate receptor densities and could correlate with different clinical stages of the disease. This pattern differs from those described in Down syndrome, autism, and Alzheimer’s disease.