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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Authors | 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 |
Journal | Internal medicine (Tokyo, Japan)
(Intern Med)
Vol. 60
Issue 12
Pg. 1927-1933
(Jun 15 2021)
ISSN: 1349-7235 [Electronic] Japan |
PMID | 33518579
(Publication Type: Case Reports, Journal Article)
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Topics |
- Abnormalities, Multiple
- Adult
- Face
(abnormalities)
- Hematologic Diseases
(complications)
- Humans
- Laparoscopy
- Purpura, Thrombocytopenic, Idiopathic
(complications, diagnosis, genetics)
- Splenectomy
- Splenomegaly
- Vestibular Diseases
(complications, diagnosis, genetics)
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