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A girl with Cardio-facio-cutaneous syndrome complicated with status epilepticus and acute encephalopathy
Authors:Keisuke Wakusawa  Satoru Kobayashi  Yu Abe  Soichiro Tanaka  Wakaba Endo  Takehiko Inui  Mitsutosi Iwaki  Shuei Watanabe  Noriko Togashi  Takahiro Nara  Tetsuya Niihori  Yoko Aoki  Kazuhiro Haginoya
Affiliation:1. Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, Japan;2. Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan;3. Department of Pediatrics, Osaki Citizen Hospital, Osaki, Japan;4. Department of Neurology, Miyagi Children’s Hospital, Sendai, Japan;5. Department of Rehabilitation, Miyagi Children’s Hospital, Sendai, Japan;6. Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
Abstract:We report a six-year-old girl with Cardio-facio-cutaneous (CFC) syndrome who developed acute encephalopathy after the recurrence of status epilepticus. While epileptic encephalopathy and severe epilepsy have been mentioned as frequent complications of the CFC syndrome, no previous reports have shown a case of the CFC syndrome complicated with acute encephalopathy. Here we discuss the possibility for the linkage between the development of acute encephalopathy and CFC syndrome which is generally susceptible to seizures or epilepsy.
Keywords:CFC syndrome   Acute encephalopathy   Status epilepticus
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