title: Epilepsy and polymicrogyria in Kabuki make-up (Niikawa-Kuroki) syndrome.
abstract: 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 microcephaly, brachycephaly, early hypotonia, feeding disorders, subatrophy of the optic nerves, subarachnoid cyst, 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 polymicrogyria 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.
authors.affiliation: IRCCS Neuromed, Pozzilli (IS), Rome, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Di Gennaro
authors.forename: C
authors.initials: C
authors.lastname: Condoluci
authors.forename: C
authors.initials: C
authors.lastname: Casali
authors.forename: O
authors.initials: O
authors.lastname: Ciccarelli
authors.forename: G
authors.initials: G
authors.lastname: Albertini
mesh_terms: D000015:Abnormalities, Multiple; D000293:Adolescent; D001921:Brain / Q000002:abnormalities*; D004827:Epilepsy; D005145:Face / Q000002:abnormalities*; D005260:Female; D006130:Growth Disorders; D006228:Hand Deformities, Congenital; D006801:Humans; D008607:Intellectual Disability; D007564:Japan; D008279:Magnetic Resonance Imaging; D011629:Puberty, Precocious; D013577:Syndrome