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

Koichi Aizaki1, Kenji Sugai, Yoshiaki Saito

  • 1Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.

Brain & Development
|April 17, 2010
PubMed

Insights

Infantile spasms in cardio-facio-cutaneous (CFC) syndrome are challenging to manage. This case highlights the potential for severe psychomotor delay and abnormal myelination in affected children.

Area of Science:

  • Genetics
  • Neurology
  • Pediatrics

Background:

  • Cardio-facio-cutaneous (CFC) syndrome is a rare genetic disorder.
  • BRAF gene mutations are implicated in CFC syndrome.
  • Infantile spasms are a severe form of epilepsy in infants.

Observation:

  • A patient with CFC syndrome and a specific BRAF mutation presented with repetitive epileptic spasms.
  • Electroencephalograms showed hypsarrhythmia.
  • MRI revealed delayed myelination and a hypoplastic corpus callosum.

Findings:

  • Standard antiepileptic treatments, including ACTH therapy, were largely ineffective.
  • A ketogenic diet and clorazepate dipotassium provided only transient seizure control.
  • Seizures persisted with intractable epileptic foci and severe psychomotor delay.

Implications:

  • Infantile spasms in CFC syndrome can be refractory to treatment.
  • This condition may be associated with significant neurodevelopmental deficits, including myelination abnormalities.
  • Further research is needed to optimize management strategies for these patients.

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