A case report of Kabuki make-up syndrome with cytomegalovirus infection.

An 8-month-male infant was admitted to our institute in order to investigate his developmental delay. He had facial features-long palpebral fissuresⁱ with eversionⁱ of the lower lateralⁱ eyelids, arched eyebrows with lateral sparseness, depressed nasalⁱ tip, large, prominent and cupped ears. From these characteristical features, he was diagnosed as having Kabuki make-up syndrome (KS). When he was 2 months old, he was admitted to our institute because of intractable stridorⁱ and liver dysfunction associated with cytomegalovirus (CMV) infection. In KS, increased susceptibility to infection is described. We suspected persistent CMV infection because of an increased susceptibility to infection in KS. Recently acute idiopathicⁱ thrombocytopenic purpuraⁱ (ITPⁱ) was diagnosed. According to the correlation between the number of CMV DNA copies and his platelet count, it is speculated that ITP would occur when the number of CMV DNA copies was elevated.