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

TitleEpilepsy and polymicrogyria in Kabuki make-up (Niikawa-Kuroki) syndrome.
Publication TypeJournal Article
Year of Publication1999
AuthorsDi Gennaro G, Condoluci C, Casali C, Ciccarelli O, Albertini G
JournalPediatric neurology
Date Published1999 Aug

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 abnormalities, postnatal growth deficiency, and mental retardation. Central nervous system dysfunctions, other than mental retardation, are rarely reported; they include microcephalyi, brachycephaly, early hypotonia, feeding disorders, subatrophy of the optic nerves, subarachnoid cysti, cerebellar and brainstem atrophy, and epilepsy. These manifestations appear to be more common in non-Japanese patients. Reported is an Italian child with phenotypical appearance of Kabuki make-up syndrome and partial epilepsy who demonstrated polymicrogyriai 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.

Alternate JournalPediatr. Neurol.
Citation Key10465145