title: SPECT revealed cortical dysfunction in a patient who had genetically definite megalencephalic leukoencephalopathy with subcortical cysts.
abstract: We describe the findings on single photon emission computed tomography (SPECT) in a patient who had genetically definite megalencephalic leukoencephalopathy with subcortical cysts. Technetium-99m-ethyl cysteinate dimer SPECT revealed hypoperfusion in the cerebral white matter, which had shown high signal intensity on magnetic resonance imaging (MRI) T2 images. Hypoperfusion was also unexpectedly found in the frontal cortices, which showed no abnormalities on MRI. This frontal abnormality corresponded clinically to a low score on the frontal assessment battery. Decreased GABA receptor density as suggested by (123)I-Iomazenil SPECT provided further evidence of cortical neuron dysfunction. Although confirmation must await future larger-scale SPECT and functional studies, our findings suggest that SPECT can be used to non-invasively monitor in vivo cortical function in this disease.
authors.affiliation: Department of Neurology, Nara Medical University School of Medicine, Kashihara, Nara, Japan.
authors.forename: Takao
authors.initials: T
authors.lastname: Kiriyama
authors.forename: Emi
authors.initials: E
authors.lastname: Tanizawa
authors.forename: Makito
authors.initials: M
authors.lastname: Hirano
authors.forename: Takayuki
authors.initials: T
authors.lastname: Shinkai
authors.forename: Hirohide
authors.initials: H
authors.lastname: Asai
authors.forename: Yoshiko
authors.initials: Y
authors.lastname: Furiya
authors.forename: Satoshi
authors.initials: S
authors.lastname: Ueno
mesh_terms: D000328:Adult; D001253:Astrocytes / Q000378:metabolism; D020863:Central Nervous System Cysts / Q000000981:diagnostic imaging* / Q000235:genetics; D002508:Cephalometry; D002531:Cerebellum / Q000098:blood supply / Q000000981:diagnostic imaging; D002540:Cerebral Cortex / Q000098:blood supply / Q000000981:diagnostic imaging*; D002869:Chromosome Aberrations; D003062:Codon; D003241:Consanguinity; D003545:Cysteine / Q000031:analogs & derivatives; D004252:DNA Mutational Analysis; D015140:Dementia, Vascular / Q000000981:diagnostic imaging* / Q000235:genetics; D005808:Genes, Recessive; D006720:Homozygote; D006801:Humans; D007930:Leucine / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009460:Neurologic Examination; D015609:Organotechnetium Compounds; D012694:Serine / Q000235:genetics; D015899:Tomography, Emission-Computed, Single-Photon
chemical_list: D003062:Codon; C425069:MLC1 protein, human; D008565:Membrane Proteins; D015609:Organotechnetium Compounds; D012694:Serine; D007930:Leucine; C059659:technetium Tc 99m bicisate; D003545:Cysteine