A girl with Cardio-facio-cutaneous syndrome complicated with status epilepticus and acute encephalopathy

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

doi:10.1016/j.braindev.2012.12.007

A girl with Cardio-facio-cutaneous syndrome complicated with status epilepticus and acute encephalopathy

Brain Dev. 2014 Jan;36(1):61-3. doi: 10.1016/j.braindev.2012.12.007. Epub 2013 Jan 20.

Authors

Affiliations

¹ Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, Japan. Electronic address: [email protected].
² Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, Japan.
³ Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
⁴ Department of Pediatrics, Osaki Citizen Hospital, Osaki, Japan.
⁵ Department of Neurology, Miyagi Children's Hospital, Sendai, Japan.
⁶ Department of Rehabilitation, Miyagi Children's Hospital, Sendai, Japan.
⁷ Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan.
⁸ Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, Japan; Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.

PMID: 23340054
DOI: 10.1016/j.braindev.2012.12.007

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: Acute encephalopathy; CFC syndrome; Status epilepticus.

Publication types

Case Reports

MeSH terms

Brain / pathology*
Brain Diseases / complications*
Child
Ectodermal Dysplasia / complications*
Facies
Failure to Thrive / complications*
Female
Heart Defects, Congenital / complications*
Humans
Magnetic Resonance Imaging
Status Epilepticus / complications*

Supplementary concepts

Cardiofaciocutaneous syndrome