Symptomatic Chiari I malformation in Kabuki syndrome.

TitleSymptomatic Chiari I malformation in Kabuki syndrome.
Publication TypeJournal Article
Year of Publication2005
AuthorsCiprero KL, Clayton-Smith J, Donnai D, Zimmerman RA, Zackai EH, Ming JE
JournalAmerican journal of medical genetics. Part A
Date Published2005 Jan 30

Kabuki (Niikawa-Kuroki) syndrome is associated with a characteristic facial appearance, cleft palatei, congenitali 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 anomalyi 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.

Alternate JournalAm. J. Med. Genet. A
Citation Key15523623