Dilated vein of Galen in Kabuki syndrome.

TitleDilated vein of Galen in Kabuki syndrome.
Publication TypeJournal Article
Year of Publication2011
AuthorsSánchez-Carpintero R, Herranz A, Reynoso C, Zubieta JL
JournalBrain & development
Date Published2011 Feb 15

Kabuki syndrome (KS) comprises multiple congenitali abnormalities and is characterized by a peculiar facial appearance, dermatoglyphic anomalies, mental retardation, skeletal abnormalities and postnatal growth retardation. We describe the case of a 23-month-old boy with the typical features of KS who had several malformations in the veins of the brain, which had not previously been described in patients with this syndrome. The MRI phlebogram of this patient showed that the vein of Galen was dilated and that it drained anomalously. The sinusi rectus was abnormal and the longitudinal inferior venous sinus was absent. In view of this finding, together with the fact that structural brain abnormalities in KS are more frequent than in other congenital syndromes with multiple malformations, we propose that MRI be used in the diagnostic work-up of all patients with KS.

Citation Key928
PubMed ID21330077