Introduction
Takenouchi-Kosaki syndrome (TKS) is a rare congenital disease caused by
a de novo heterozygous mutation,
NM_001039802.2:c.191A>G:p.(Tyr64Cys) in the CDC42gene, a gene known to play a pivotal role in cell cycle
regulation.1,2 CDC42 functions in multiple
organs in the cardiovascular, genitourinary, respiratory, nervous, and
immune systems. This explains the following clinical features of TKS:
macrothrombocytopenia, developmental delay, dysmorphic facial features,
deafness, and other medical conditions, such as hypothyroidism,
immunodeficiency, lymphedema, and camptodactyly, depending on the
case.3-6 Previously, we reported a case of autoimmune
haemolytic anaemia (AIHA) with TKS,5 which was the
first reported comorbid case. Little is known about treatment for
macrothrombocytopenia associated with TKS,7 and
therefore, thrombocytopenia has been treated with platelet transfusion
only when patients exhibit severe hemorrhage. Splenectomy has been a
contraindication for treating inherited
thrombocytopenia8; however, in this case, we decided
to perform splenectomy to break the vicious cycle of intractable
hypersplenism and AIHA, which required repetitive red blood cell
transfusions.
After splenectomy, we unexpectedly observed an improvement in
thrombocytopenia in addition to AIHA, which is a novel effect of
splenectomy for thrombocytopenia in TKS.