title: Symptomatic Chiari I malformation in Kabuki syndrome.
abstract: Kabuki (Niikawa-Kuroki) syndrome is associated with a characteristic facial appearance, cleft palate, congenital heart defects, and developmental delay. Structural brain anomalies have only occasionally been described in Kabuki syndrome. Chiari type I malformation, characterized by caudal herniation of the cerebellar tonsils through the foramen magnum, has been described only infrequently in association with defined syndromes and has been reported once in association with Kabuki syndrome. We report three additional children with Kabuki syndrome who have Chiari I malformation. Two children presented with chronic headaches and the third patient presented with gait abnormalities in adolescence. The incidence of Chiari I malformation may be higher than previously reported in Kabuki syndrome since it may not be diagnosed until later in childhood, whereas most reports of Kabuki syndrome are of young children. Further, symptoms of Chiari I anomaly can be somewhat nonspecific. Thus, we suggest that Chiari type I be considered in patients with Kabuki syndrome who present with persistent headache, neck pain, or other symptoms suggestive of Chiari I anomaly.
authors.affiliation: Department of Pediatrics, Division of Human Genetics, The Children's Hospital of Philadelphia and the University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA.
authors.forename: Karen L
authors.initials: KL
authors.lastname: Ciprero
authors.forename: Jill
authors.initials: J
authors.lastname: Clayton-Smith
authors.forename: Dian
authors.initials: D
authors.lastname: Donnai
authors.forename: Robert A
authors.initials: RA
authors.lastname: Zimmerman
authors.forename: Elaine H
authors.initials: EH
authors.lastname: Zackai
authors.forename: Jeffrey E
authors.initials: JE
authors.lastname: Ming
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D001139:Arnold-Chiari Malformation / Q000150:complications / Q000473:pathology*; D002531:Cerebellum / Q000002:abnormalities; D002648:Child; D002675:Child, Preschool; D002972:Cleft Palate / Q000473:pathology; D019465:Craniofacial Abnormalities / Q000473:pathology*; D002658:Developmental Disabilities / Q000473:pathology*; D005260:Female; D006130:Growth Disorders / Q000473:pathology; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D013577:Syndrome