Epilepsy and polymicrogyria in Kabuki make-up (Niikawa-Kuroki) syndrome

Kabuki make-up syndrome is a rare dysmorphogenic disorder characterized by peculiar facial appearance (resembling the make-up of actors in Kabuki, the traditional Japanese theatre), skeletal anomalies, dermatoglyphic abnormal ities, postnatal growth deficiency, and mental retardation. Central nervous system dysfunctions, other than mental retardation, are rarely reported; t hey include microcephaly, brachycephaly, early hypotonia, feeding disorders , subatrophy of the optic nerves, subarachnoid cyst, cerebellar and brainst em atrophy, and epilepsy, These manifestations appear to be more common in non-Japanese patients. Reported is an Italian child with phenotypical appea rance of Kabuki make-up syndrome? and partial epilepsy who demonstrated pol ymicrogyria on neuroimaging. This article is the first report of a gyration disorder in Kabuki make-up syndrome, The relationship between epilepsy and polymicrogyria in this patient is discussed, (C) 1999 by Elsevier Science Inc. All rights reserved.