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

TitleA case report of Kabuki make-up syndrome with cytomegalovirus infection.
Publication TypeJournal Article
Year of Publication2004
AuthorsKashiwagi Y, Numabe H, Kawashima H, Mori M, Miyajima T, Tsuyuki K, Takekuma K, Hoshika A
JournalThe Journal of infection
Date Published2004 Apr

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 DNAi copies and his platelet count, it is speculated that ITP would occur when the number of CMV DNA copies was elevated.

Alternate JournalJ. Infect.
Citation Key15001308