title: Cerebral blood flow on (99m)Tc ethyl cysteinate dimer SPECT in 2 siblings with monocarboxylate transporter 8 deficiency.
abstract: Two siblings with psychomotor retardation, congenital hypotonia, spasticity, and no speech acquisition underwent MRI and Tc ethyl cysteinate dimer SPECT imaging. The SPECT images showed a reduction in regional cerebral blood flow in the bilateral frontal cortex and cerebellum in both cases. T2-weighted and fluid attenuated inversion recovery images obtained using MRI showed delayed myelination and cortical atrophy in mainly the frontal lobes. Based on the MRI findings, the abnormal serum levels of thyroid hormone, and the gene mutation, the siblings were diagnosed as having monocarboxylate transporter 8 deficiency. A reduction in regional cerebral blood flow, as observed using SPECT, may be a common feature of monocarboxylate transporter 8 deficiency.
authors.affiliation: Departments of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
authors.forename: Masahide
authors.initials: M
authors.lastname: Goto
authors.forename: Kimiteru
authors.initials: K
authors.lastname: Ito
authors.forename: Nobuhiko
authors.initials: N
authors.lastname: Okamoto
authors.forename: Noriko
authors.initials: N
authors.lastname: Sato
authors.forename: Masayuki
authors.initials: M
authors.lastname: Sasaki
mesh_terms: D002560:Cerebrovascular Circulation; D002675:Child, Preschool; D003545:Cysteine / Q000031:analogs & derivatives*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D038901:X-Linked Intellectual Disability / Q000000981:diagnostic imaging* / Q000503:physiopathology*; D009123:Muscle Hypotonia / Q000000981:diagnostic imaging* / Q000503:physiopathology*; D009133:Muscular Atrophy / Q000000981:diagnostic imaging* / Q000503:physiopathology*; D015609:Organotechnetium Compounds; D012039:Regional Blood Flow; D035781:Siblings; D015899:Tomography, Emission-Computed, Single-Photon; D014057:Tomography, X-Ray Computed
chemical_list: D015609:Organotechnetium Compounds; C059659:technetium Tc 99m bicisate; D003545:Cysteine