Cardio-facio-cutaneous syndrome with infantile spasms and delayed myelination

Koichi Aizaki, Kenji Sugai, Yoshiaki Saito, Eiji Nakagawa, Masayuki Sasaki, Yoko Aoki, Yoichi Matsubara

Research output: Contribution to journalArticlepeer-review

16 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)166-169
Number of pages4
JournalBrain and Development
Issue number2
Publication statusPublished - 2011 Feb


  • Abnormal myelination
  • BRAF
  • Cardio-facio-cutaneous syndrome
  • Infantile spasms

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Clinical Neurology


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