Kabuki make-up syndrome associated with West syndrome

Acta Paediatr Jpn. 1997 Jun;39(3):392-4. doi: 10.1111/j.1442-200x.1997.tb03763.x.

Abstract

A Japanese boy with Kabuki make-up syndrome associated with West syndrome is reported. He developed periodic tonic spasms at 6 months of age while his electro-encephalogram also revealed hypsarrhythmia. Although only a few previously reported cases of Kabuki make-up syndrome have been associated with epilepsy, it is likely that epileptic seizures are another primary feature of Kabuki make-up syndrome.

Publication types

  • Case Reports

MeSH terms

  • Electroencephalography
  • Epilepsy / complications
  • Epilepsy / genetics*
  • Facies*
  • Humans
  • Infant
  • Intellectual Disability / complications
  • Intellectual Disability / genetics*
  • Male
  • Syndrome