title: Cardio-facio-cutaneous syndrome with infantile spasms and delayed myelination.
abstract: A girl with cardio-facio-cutaneous (CFC) syndrome due to a BRAF gene mutation (c.1454T→C, p.L485S) experienced repetitive epileptic spasms at the corrected age of 4 months. Electroencephalograms revealed hypsarrhythmia, and magnetic resonance imaging identified delayed myelination and a hypoplastic corpus callosum. Various antiepileptic treatments, including adrenocorticotropic hormone therapy, were ineffective, although transient seizure control was achieved by a ketogenic diet and clorazepate dipotassium. However, seizures with epileptic foci at the bilateral posterior temporal areas re-aggravated and remained intractable; severe psychomotor delay persisted. This case indicated that infantile spasms in CFC syndrome can be difficult to control and may be accompanied by severe psychomotor retardation and abnormal myelination.
authors.affiliation: Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
authors.forename: Koichi
authors.initials: K
authors.lastname: Aizaki
authors.forename: Kenji
authors.initials: K
authors.lastname: Sugai
authors.forename: Yoshiaki
authors.initials: Y
authors.lastname: Saito
authors.forename: Eiji
authors.initials: E
authors.lastname: Nakagawa
authors.forename: Masayuki
authors.initials: M
authors.lastname: Sasaki
authors.forename: Yoko
authors.initials: Y
authors.lastname: Aoki
authors.forename: Yoichi
authors.initials: Y
authors.lastname: Matsubara
mesh_terms: D001921:Brain / Q000254:growth & development / Q000473:pathology*; D002658:Developmental Disabilities / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D004476:Ectodermal Dysplasia / Q000150:complications / Q000235:genetics; D019066:Facies; D005183:Failure to Thrive / Q000150:complications / Q000235:genetics; D005260:Female; D006330:Heart Defects, Congenital / Q000150:complications / Q000235:genetics; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging / Q000379:methods; D009154:Mutation / Q000235:genetics; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics; D012640:Seizures / Q000150:complications / Q000235:genetics; D013036:Spasms, Infantile / Q000150:complications* / Q000235:genetics; D015899:Tomography, Emission-Computed, Single-Photon / Q000379:methods
chemical_list: C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf