title: Neuroradiologic findings in Sotos syndrome.
abstract: Sotos syndrome is a well-known anomaly syndrome characterized by overgrowth, characteristic facial gestalt, and developmental delay, and haploinsufficiency of the NSD1 gene has been revealed as one of the major genetic causes. However, there have been only a few reports on neuroradiologic findings by computed tomography (CT) or magnetic resonance imaging (MRI), and functional examination of the brain has not been reported. We examined three cases with typical Sotos syndrome, which also were confirmed by genetic analysis with a specific probe for the NSD1 gene. The results of MRI showed the characteristic features that have been reported previously. The findings obtained by using single-photon emission computed tomography and magnetic resonance spectroscopy suggested an association between mental delay and behavioral tendency in Sotos syndrome and immaturity in frontal brain function.
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, Gifu University, Japan.
authors.forename: Hiroko
authors.initials: H
authors.lastname: Horikoshi
authors.forename: Zenichiro
authors.initials: Z
authors.lastname: Kato
authors.forename: Mitsuo
authors.initials: M
authors.lastname: Masuno
authors.forename: Takahiko
authors.initials: T
authors.lastname: Asano
authors.forename: Tomoko
authors.initials: T
authors.lastname: Nagase
authors.forename: Yuka
authors.initials: Y
authors.lastname: Yamagishi
authors.forename: Ryo
authors.initials: R
authors.lastname: Kozawa
authors.forename: Takahiro
authors.initials: T
authors.lastname: Arai
authors.forename: Minako
authors.initials: M
authors.lastname: Aoki
authors.forename: Takahide
authors.initials: T
authors.lastname: Teramoto
authors.forename: Kentaro
authors.initials: K
authors.lastname: Omoya
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto
authors.forename: Naohiro
authors.initials: N
authors.lastname: Kurotaki
authors.forename: Osamu
authors.initials: O
authors.lastname: Shimokawa
authors.forename: Kenji
authors.initials: K
authors.lastname: Kurosawa
authors.forename: Naomi
authors.initials: N
authors.lastname: Kondo
mesh_terms: D001921:Brain / Q000000981:diagnostic imaging* / Q000473:pathology*; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000175:diagnosis*; D019066:Facies; D006130:Growth Disorders / Q000175:diagnosis*; D006801:Humans; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D013577:Syndrome; D015899:Tomography, Emission-Computed, Single-Photon