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

[kabuki syndrome]

Kabuki syndrome (KS ) is often associated with autoimmune abnormalities , such as idiopathic thrombocytopenic purpura (ITP ), autoimmune hemolytic anemia , leukoplakia and thyroiditis , as well as congenital 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 .