Clinical and brain 18fluoro-2-deoxyglucose positron emission tomographic findings in ethylmalonic aciduria, a progressive neurometabolic disease.
We report a 2-year-old boy with ethylmalonic aciduria and vasculopathy syndrome evaluated by 18fluoro-2-deoxyglucose positron emission tomographic (18FDG PET) brain scan, with intense uptake of 18FDG in the caudate nucleus and putamen bilaterally but with no morphological changes on magnetic resonance imaging (MRI). A repeat 18FDG PET brain scan 1 year later showed a significant bilateral decreased uptake of glucose in the putamen and the head of the caudate nucleus as well as a decreased uptake in the frontal lobes. On MRI, there was atrophy and watershed infarcts in the basal ganglia, explaining the loss of glucose uptake. These results reflect a selective vulnerability of the basal ganglia, their functional derangement, and ultimate degeneration.
al-Essa
M A
MA
Department of Pediatrics and Biological and Medical Research, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
al-Shamsan
L A
LA
Ozand
P T
PT
D002421:Caudate Nucleus / Q000000981:diagnostic imaging; D002675:Child, Preschool; D019788:Fluorodeoxyglucose F18; D005625:Frontal Lobe / Q000000981:diagnostic imaging; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008314:Malonates / Q000652:urine*; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000000981:diagnostic imaging* / Q000652:urine; D019636:Neurodegenerative Diseases / Q000175:diagnosis / Q000000981:diagnostic imaging* / Q000652:urine; D011699:Putamen / Q000000981:diagnostic imaging; D019275:Radiopharmaceuticals; D014055:Tomography, Emission-Computed
D008314:Malonates; D019275:Radiopharmaceuticals; D019788:Fluorodeoxyglucose F18; C038080:ethylmalonic acid