title: Dilated vein of Galen in Kabuki syndrome.
abstract: Kabuki syndrome (KS) comprises multiple congenital 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 sinus 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.
authors.affiliation: Pediatric Neurology Unit, Department of Pediatrics, University Clinic of Navarra, Spain. rsanchezc@unav.es
authors.forename: Rocío
authors.initials: R
authors.lastname: Sánchez-Carpintero
authors.forename: Ana
authors.initials: A
authors.lastname: Herranz
authors.forename: César
authors.initials: C
authors.lastname: Reynoso
authors.forename: José Luis
authors.initials: JL
authors.lastname: Zubieta
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D002550:Cerebral Veins / Q000002:abnormalities*; D004108:Dilatation, Pathologic; D005145:Face / Q000002:abnormalities; D006402:Hematologic Diseases; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D015837:Vestibular Diseases