Premium
Chorea associated with antiphospholipid antibodies in a patient with Kabuki syndrome
Author(s) -
Gidwani Pooja,
Segal Eric,
Shanske Alan,
Driscoll Catherine
Publication year - 2007
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.31774
Subject(s) - chorea , medicine , antiphospholipid syndrome , hypogammaglobulinemia , immunology , thyroiditis , autoimmune hemolytic anemia , systemic lupus erythematosus , vitiligo , autoimmunity , dermatology , antibody , thyroid , disease
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. © 2007 Wiley‐Liss, Inc.