A case report of Kabuki make-up syndrome with cytomegalovirus infection - 24/08/11
, Hironao Numabe, Hisashi Kawashima, Mika Mori, Tasuku Miyajima, Kazumitu Tsuyuki, Kouji Takekuma, Akinori Hoshika
Corresponding author. Tel.: +81-3-3342-6111; fax: +81-3-3344-0643Abstract |
An 8-month-male infant was admitted to our institute in order to investigate his developmental delay. He had facial features—long palpebral fissures with eversion of the lower lateral eyelids, arched eyebrows with lateral sparseness, depressed nasal 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 stridor 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 idiopathic thrombocytopenic purpura (ITP) 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.
Le texte complet de cet article est disponible en PDF.Keywords : Cytomegalovirus (CMV), Kabuki make-up syndrome (KS), Idiopathic thrombocytopenic purpura (ITP)
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Vol 48 - N° 3
P. 278-282 - avril 2004 Retour au numéro
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