The 60th Annual Meeting of the Japanese Society of Child Neurology

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Poster Presentation

Congenital abnormality

[P3] Congenital abnormality

Thu. May 31, 2018 6:15 PM - 6:50 PM Poster (Convention Hall A)

Chair:Mariko Maezawa(Tsurumi University, Department of dental hygiene)

[P-014] A case of PHACE syndrome

Atsuko Ohno1, YUKI MAKI1, MASAHIRO TANAKA1, YU OKAI1, YOKO SAKAGUCHI1, HIROYUKI YAMAMOTO1, TOMOHIKO NAKATA1, YUKAKO MURAMATSU1, HIROYUKI KIDOKORO1, JUN NATSUME1,2 (1.Department of Pediatrics, Nagoya University, Aichi, Japan, 2.Department of Development Disability Medicine, Nagoya University, Aichi, Jap an)

[P-015] Escobar syndrome with mutations in the fetal subunit of the acetylcholine receptor（CHRNG）

Tomohiko Nakata1, SEIJI MIZUNO2, YUKI MAKI1, MASAHIRO TANAKA1, YU OKAI1, YOKO SAKAGUCHI1, HIROYUKI YAMAMOTO1, ATSUKO ONO1, HIROYUKI KIDOKORO1, ISSEI IMOTO3, KINJI OHNO4, JUN NATSUME1,5 (1.Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan, 2.Aichi Prefectural Colony Central Hospital, Kasugai, Japan, 3.Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, Japan, 4.Division of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Nagoya, Japan)

[P-018] A case of Aicardi—Goutieres syndrome with persistent serum IFN—alpha elevation

Kazuo Kubota1, HIDENORI OHNISHI1, YOSHINORI TSURUSAKI2, KENJI ORII3, TOSHIYUKI YAMAMOTO4, NAOMICHI MATSUMOTO2, TOSHIYUKI FUKAO1 (1.Department of Pediatrics, Gifu University Graduate School of Medicine, Gifu, Japan, 2.Department of Human Genetics, Yokohama City University, Graduate School of Medicine, Yokohama, Japan, 3.Nagamori Pediatrics Clinic, 4.Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan, 5.Department of Developmental Disability Medicine, Nagoya University Graduate School of Medicine, Nagoya, Japan)