Case report Dilated vein of Galen in Kabuki syndrome Rocı ´o Sa ´nchez-Carpintero a,⇑ , Ana Herranz a , Ce ´sar Reynoso a , Jose ´ Luis Zubieta b a Pediatric Neurology Unit, Department of Pediatrics, University Clinic of Navarra, Spain b Neuroradiology Unit, Department of Radiology, University Clinic of Navarra, Spain Received 15 November 2010; received in revised form 21 January 2011; accepted 23 January 2011 Abstract Kabuki syndrome (KS) comprises multiple congenital abnormalities and is characterized by a peculiar facial appearance, dermat- oglyphic 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. Ó 2011 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved. Keywords: Kabuki syndrome; Brain vessels; Vein of Galen; MRI 1. Introduction Kabuki make-up syndrome was first described in 1981 as comprising multiple congenital abnormalities and mental retardation. Patients have a peculiar facial appearance (said to be reminiscent of the Japanese hero warrior as represented by Japanese Kabuki actors’ with heavy make-up) [1,2]. The etiology is unknown and the estimated prevalence is 1/32,000 [3]. Most cases are spo- radic although there are reports of families with several affected members with a pattern of inheritance sugges- tive of an autosomal dominant mode of transmission. Several chromosomal abnormalities have been associ- ated with the phenotype [4] and a recent report strongly suggests that mutations in MLL2 are a major cause of KS [5]. The major diagnostic criteria for KS include: (1) the peculiar facial appearance that is present in all patients and that is the only essential feature for diagnosis, (2) dermatoglyphic anomalies (in 93% of cases), (3) mild mental retardation (92%), (4) skeletal abnormalities (92%), and (5) postnatal growth retardation (83%) [3]. Structural abnormalities in the central nervous system (CNS) are more frequent than in other syndromes with multiple congenital abnormalities and mental retarda- tion [6]. There are many other less frequently described malformations, spanning ophthalmic, auditory, genito- urinary, gastrointestinal, cardiac, dental, endocrine and immunological systems [3,7]. We describe a case of KS in which there is an abnor- mality of the venous system of the brain, a finding not previously reported in this syndrome. 2. Case report A 23-month-old boy was brought to our pediatric neurology department for consultation regarding devel- opmental delay and malformations. 0387-7604/$ - see front matter Ó 2011 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved. doi:10.1016/j.braindev.2011.01.008 ⇑ Corresponding author. Address: Pediatric Neurology Unit, Clı ´nica Universidad de Navarra, Pio XII, 36, 31080 Pamplona, Spain. Tel.: +34 948296236; fax: +34 948 296500. E-mail address: rsanchezc@unav.es (R. Sa ´nchez-Carpintero). www.elsevier.com/locate/braindev Brain & Development 34 (2012) 76–79