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

Toshiki Mushino; Takayuki Hiroi; Yusuke Yamashita; Norihiko Suzaki; Hiroyuki Mishima; Masaki Ueno; Akira Kinoshita; Koichi Minami; Kohsuke Imai; Ko-ichiro Yoshiura; Takashi Sonoki; Shinobu Tamura

doi:10.2169/internalmedicine.6694-20

CASE REPORTS

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

Toshiki Mushino, Takayuki Hiroi, Yusuke Yamashita, Norihiko Suzaki, Hiroyuki Mishima, Masaki Ueno, Akira Kinoshita, Koichi Minami, Kohsuke Imai, Ko-ichiro Yoshiura, Takashi Sonoki, Shinobu Tamura

Author information

Toshiki Mushino
Department of Hematology/Oncology, Wakayama Medical University, Japan
Takayuki Hiroi
Department of Hematology/Oncology, Wakayama Medical University, Japan
Yusuke Yamashita
Department of Hematology/Oncology, Wakayama Medical University, Japan
Norihiko Suzaki
Second Department of Surgery, Wakayama Medical University, Japan
Hiroyuki Mishima
Department of Human Genetics, Graduate School of Biomedical Sciences, Nagasaki University, Japan
Masaki Ueno
Second Department of Surgery, Wakayama Medical University, Japan
Akira Kinoshita
Department of Human Genetics, Graduate School of Biomedical Sciences, Nagasaki University, Japan
Koichi Minami
Department of Pediatrics, Wakayama Medical University, Japan
Kohsuke Imai
Department of Pediatrics, Tokyo Medical and Dental University, Japan
Ko-ichiro Yoshiura
Department of Human Genetics, Graduate School of Biomedical Sciences, Nagasaki University, Japan
Takashi Sonoki
Department of Hematology/Oncology, Wakayama Medical University, Japan
Shinobu Tamura
Department of Hematology/Oncology, Wakayama Medical University, Japan

Keywords: Kabuki syndrome, splenomegaly, immune thrombocytopenic purpura, laparoscopic splenectomy, KMT2D

JOURNAL OPEN ACCESS

2021 Volume 60 Issue 12 Pages 1927-1933

DOI https://doi.org/10.2169/internalmedicine.6694-20

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Details

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.

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