Successful treatment with rituximab of refractory idiopathic thrombocytopenic purpura in a patient with Kabuki syndrome.

Kabuki syndrome (KS) is often associated with autoimmune abnormalities, such as idiopathicⁱ thrombocytopenic purpuraⁱ (ITPⁱ), autoimmune hemolytic anemiaⁱ, leukoplakia and thyroiditis, as well as congenitalⁱ anomalies. We herein present a KS patient with refractory ITP who achieved durable and complete remission in response to a total of four once-monthly infusions of rituximab. KS patients are often more susceptible to infection, so splenectomy should be avoided. Therefore, rituximab therapy is an alternative option for KS patients with ITP who fail to respond to first-line therapy.