title: Early thalamic and cortical hypometabolism in adult-onset dementia due to metachromatic leukodystrophy.
abstract: A case of early-onset adult dementia with family history of dementia is reported, characterised by neuropsychological deficits, suggesting frontal involvement, with mild non specific white matter abnormalities on CT scan. Familial Alzheimer's disease was suspected but the neuropathological diagnosis on brain biopsy was metachromatic leukodystrophy. 18FDG-PET revealed a very peculiar pattern of metabolic impairment in thalamic areas, in medial and frontopolar regions, and in occipital lobes. Neuropsychological follow-up showed relatively stable difficulties of long-term memory and signs of frontal lobe dysfunction, similar to those observed in subcortical dementias. MRI subsequently showed periventricular leukoencephalopathy. The brain metabolic pattern observed in that case of metachromatic leukodystrophy was quite different from that reported in other types of dementia.
authors.affiliation: Department of Neurology, University of Liège, Belgium.
authors.forename: E
authors.initials: E
authors.lastname: Salmon
authors.forename: M
authors.initials: M
authors.lastname: Van der Linden
authors.forename: A
authors.initials: A
authors.lastname: Maerfens Noordhout
authors.forename: J M
authors.initials: JM
authors.lastname: Brucher
authors.forename: R
authors.initials: R
authors.lastname: Mouchette
authors.forename: A
authors.initials: A
authors.lastname: Waltregny
authors.forename: C
authors.initials: C
authors.lastname: Degueldre
authors.forename: G
authors.initials: G
authors.lastname: Franck
mesh_terms: D000328:Adult; D017668:Age of Onset; D000544:Alzheimer Disease / Q000175:diagnosis; D002540:Cerebral Cortex / Q000000981:diagnostic imaging / Q000378:metabolism* / Q000473:pathology; D003704:Dementia / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000209:etiology* / Q000378:metabolism / Q000473:pathology; D003937:Diagnosis, Differential; D004734:Energy Metabolism; D005260:Female; D005625:Frontal Lobe / Q000000981:diagnostic imaging / Q000378:metabolism / Q000473:pathology; D005947:Glucose / Q000378:metabolism; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000150:complications* / Q000000981:diagnostic imaging / Q000453:epidemiology / Q000378:metabolism / Q000473:pathology; D008279:Magnetic Resonance Imaging; D013788:Thalamus / Q000000981:diagnostic imaging / Q000378:metabolism* / Q000473:pathology; D014055:Tomography, Emission-Computed
chemical_list: D005947:Glucose