Chorea associated with antiphospholipid antibodies in a patient with Kabuki syndrome.

TitleChorea associated with antiphospholipid antibodies in a patient with Kabuki syndrome.
Publication TypeJournal Article
Year of Publication2007
AuthorsGidwani P, Segal E, Shanske A, Driscoll C
JournalAmerican journal of medical genetics. Part A
Volume143A
Issue12
Pagination1338-41
Date Published2007 Jun 15
Abstract

Kabuki syndrome, OMIM 147920 (KS) is a disorder characterized by multi-system abnormalities. These include physical, neurological, endocrinei, and autoimmune abnormalities. Multiple autoimmune abnormalities are described in KS such as immune thrombocytopenic purpurai (ITPi), vitiligoi, thyroiditis, hemolytic anemiai, and hypogammaglobulinemiai. In this report, we describe a patient with KS with sudden onset chorea associated with the presence of anti-phospholipid antibodies (aPLs) in the serumi. Chorea in the presence of aPLs has been well described in the literature both in the presence and absence of antiphospholipid syndrome (APS) and systemici 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.

Alternate JournalAm. J. Med. Genet. A
Citation Key17506095