Cardio-facio-cutaneous syndrome with infantile spasms and delayed myelination.
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.
Aizaki
Koichi
K
Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
Sugai
Kenji
K
Saito
Yoshiaki
Y
Nakagawa
Eiji
E
Sasaki
Masayuki
M
Aoki
Yoko
Y
Matsubara
Yoichi
Y
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
C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf