Neuroradiologic findings in Sotos syndrome.
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.
Horikoshi
Hiroko
H
Department of Pediatrics, Graduate School of Medicine, Gifu University, Japan.
Kato
Zenichiro
Z
Masuno
Mitsuo
M
Asano
Takahiko
T
Nagase
Tomoko
T
Yamagishi
Yuka
Y
Kozawa
Ryo
R
Arai
Takahiro
T
Aoki
Minako
M
Teramoto
Takahide
T
Omoya
Kentaro
K
Matsumoto
Naomichi
N
Kurotaki
Naohiro
N
Shimokawa
Osamu
O
Kurosawa
Kenji
K
Kondo
Naomi
N
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