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Symptomatic Chiari I malformation in Kabuki syndrome
Author(s) -
Ciprero Karen L.,
ClaytonSmith Jill,
Donnai Dian,
Zimmerman Robert A.,
Zackai Elaine H.,
Ming Jeffrey E.
Publication year - 2004
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30387
Subject(s) - kabuki syndrome , foramen magnum , medicine , kabuki , headaches , syringomyelia , chiari malformation , chiari i malformation , pediatrics , surgery , magnetic resonance imaging , radiology , art , visual arts
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. © 2004 Wiley‐Liss, Inc.