title: Chorea associated with antiphospholipid antibodies in a patient with Kabuki syndrome.
abstract: Kabuki syndrome, OMIM 147920 (KS) is a disorder characterized by multi-system abnormalities. These include physical, neurological, endocrine, and autoimmune abnormalities. Multiple autoimmune abnormalities are described in KS such as immune thrombocytopenic purpura (ITP), vitiligo, thyroiditis, hemolytic anemia, and hypogammaglobulinemia. In this report, we describe a patient with KS with sudden onset chorea associated with the presence of anti-phospholipid antibodies (aPLs) in the serum. Chorea in the presence of aPLs has been well described in the literature both in the presence and absence of antiphospholipid syndrome (APS) and systemic lupus erythematosus (SLE). This report of APL in a patient with KS adds to the list of autoimmune disorders seen in patients with KS and also strengthens the hypothesis that patients with this syndrome have an increased incidence of immune dysregulation.
authors.affiliation: Division of Hematology/Oncology, Children's Hospital at Montefiore, Bronx, NY 10467, USA. pooja_gidwani@yahoo.com
authors.forename: Pooja
authors.initials: P
authors.lastname: Gidwani
authors.forename: Eric
authors.initials: E
authors.lastname: Segal
authors.forename: Alan
authors.initials: A
authors.lastname: Shanske
authors.forename: Catherine
authors.initials: C
authors.lastname: Driscoll
mesh_terms: D000015:Abnormalities, Multiple / Q000276:immunology / Q000473:pathology*; D000293:Adolescent; D017152:Antibodies, Antiphospholipid / Q000097:blood*; D001327:Autoimmune Diseases / Q000473:pathology*; D002819:Chorea / Q000473:pathology*; D006801:Humans; D008297:Male
chemical_list: D017152:Antibodies, Antiphospholipid