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 antiphospholipid 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.
- Anti-phospholipid antibodies: Immune disorders
- Kabuki syndrome
ASJC Scopus subject areas