Epilepsy and polymicrogyria in Kabuki make-up (Niikawa-Kuroki) syndrome.
Title | Epilepsy and polymicrogyria in Kabuki make-up (Niikawa-Kuroki) syndrome. |
Publication Type | Journal Article |
Year of Publication | 1999 |
Authors | Di Gennaro G, Condoluci C, Casali C, Ciccarelli O, Albertini G |
Journal | Pediatric neurology |
Volume | 21 |
Issue | 2 |
Pagination | 566-8 |
Date Published | 1999 Aug |
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 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 Journal | Pediatr. Neurol. |
Citation Key | 10465145 |
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