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Neuroradiologic Findings in Sotos Syndrome

Department of Pediatrics Graduate School of Medicine Gifu University Gifu, Japan

Zenichiro Kato, MD

Department of Pediatrics Graduate School of Medicine Gifu University Gifu, Japan, zen-k{at}cc.gifu-u.ac.jp.

Mitsuo Masuno, MD

Department of Pediatrics Graduate School of Medicine Gifu University Gifu, Japan, Department of Nursing Faculty of Health and Welfare Kawasaki University of Medical Welfare Kurashiki, Japan

Takahiko Asano, MD

Department of Radiology Graduate School of Medicine Gifu University Gifu, Japan

Tomoko Nagase, MD

Department of Pediatrics Graduate School of Medicine Gifu University Gifu, Japan

Yuka Yamagishi, MD

Department of Pediatrics Graduate School of Medicine Gifu University Gifu, Japan

Ryo Kozawa, MD

Department of Pediatrics Graduate School of Medicine Gifu University Gifu, Japan

Takahiro Arai, MD

Department of Pediatrics Graduate School of Medicine Gifu University Gifu, Japan

Minako Aoki, MD

Department of Pediatrics Graduate School of Medicine Gifu University Gifu, Japan

Takahide Teramoto, MD

Department of Pediatrics Graduate School of Medicine Gifu University Gifu, Japan

Kentaro Omoya, MD

Department of Pediatrics Graduate School of Medicine Gifu University Gifu, Japan

Naomichi Matsumoto, MD

Department of Human Genetics Nagasaki University School of Medicine Nagasaki, Japan, Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama, Japan

Naohiro Kurotaki, MD

Department of Human Genetics Nagasaki University School of Medicine Nagasaki, Japan, Department of Molecular and Human Genetics Baylor College of Medicine Houston, Texas

Osamu Shimokawa, MD

Department of Human Genetics Nagasaki University School of Medicine Nagasaki, Japan Kyushu Medical Science Nagasaki Laboratory Nagasaki, Japan

Kenji Kurosawa, MD

Division of Medical Genetics Kanagawa Children's Medical Center Yokohama, Japan

Naomi Kondo, MD

Department of Pediatrics Graduate School of Medicine Gifu University Gifu, Japan

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. (J Child Neurol 2006;21:614—618; DOI 10.2310/7010.2006.00145).

Journal of Child Neurology, Vol. 21, No. 7, 614-618 (2006)
DOI: 10.1177/08830738060210071001


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