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.