Progressive Massive Splenomegaly in an Adult Patient with Kabuki Syndrome Complicated with Immune Thrombocytopenic Purpura

Abstract

Kabuki syndrome is characterized by multiple systemic anomalies and intellectual disability. It is complicated with immunodeficiencies and autoimmune disorders. The syndrome is caused by a mutation in the KMT2D gene. We herein report a case of a Kabuki syndrome with developing immune thrombocytopenic purpura (ITP) and progressive splenomegaly. Laparoscopic splenectomy was performed and the patients' symptoms quickly disappeared with platelet recovery. After this operation, the patient had no severe complications. A sequence analysis of the KMT2D gene identified a pathogenic mutation frequently associated with ITP. Laparoscopic splenectomy is therefore considered to be a good therapeutic option for recurrent ITP and symptomatic splenomegaly with Kabuki syndrome.

Unmasking the challenges of Kabuki syndrome in adulthood: A case series

“…Since its introduction to the medical literature, hundreds of patients with Kabuki syndrome have been described. The majority of these patients are children, with rare case reports of patients in their 20s and 30s (Gooch et al, 2022; Hamahata et al, 2013; Mushino et al, 2021; Oto et al, 2008; Shalev et al, 2004). There is one piece describing long‐term follow‐up for three patients with a clinical diagnosis of Kabuki syndrome, but the reported patients were still only in their 20s at age of last follow up (Shalev et al, 2004).…”

Kabuki syndrome complicated by severe immune thrombocytopenia and autoimmune thyroiditis: Identification of a novel pathogenic mutation

“…Mutations in KMT2D can disrupt terminal B-cell differentiation, leading to humoral immunodeficiency and autoimmunity. 13,14 KS patients with truncating-type KMT2D mutations often present with more typical and severe symptoms. 2 Thus, KMT2D mutation identification is crucial for predicting disease severity and autoimmune complications.…”