- Neurosurgeon and Interventional Neuroradiologist, University Hospital Cajuru, Curitiba, Parana, Brazil
- Resident of Neurosurgery, University Hospital Cajuru, Curitiba, Parana, Brazil
- Head of Interventional Neuroradiology Department, University Hospital Cajuru, Curitiba, Parana, Brazil
Luana A. M. Gatto
Neurosurgeon and Interventional Neuroradiologist, University Hospital Cajuru, Curitiba, Parana, Brazil
DOI:10.4103/sni.sni_427_16Copyright: © 2017 Surgical Neurology International This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 3.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.
How to cite this article: Luana A. M. Gatto, Luis Henrique A. Sousa, Gelson Luis Koppe, Zeferino Demartini. Carotid artery occlusion in Kabuki syndrome: Case report and literature review. 26-May-2017;8:88
How to cite this URL: Luana A. M. Gatto, Luis Henrique A. Sousa, Gelson Luis Koppe, Zeferino Demartini. Carotid artery occlusion in Kabuki syndrome: Case report and literature review. 26-May-2017;8:88. Available from: http://surgicalneurologyint.com/surgicalint-articles/carotid-artery-occlusion-in-kabuki-syndrome-case-report-and-literature-review/
Background:Kabuki syndrome is a rare multiple congenital anomaly syndrome whose main diagnostic findings are craniofacial phenotypic changes and mental retardation. Organic structural lesions in the central nervous system are rare, although have been described already. Systemic vascular changes have also been reported rarely.
Case Description:We report the case of a young patient with Kabuki syndrome who had a transient ischemic attack due to dissection of the internal carotid artery and a likely gliosis area on the white matter.
Conclusion:Association of cervical arterial disease with this syndrome has never been described, and its pathophysiology is not yet established; however, it can direct future research and maybe treatment.
Keywords: Carotid arterial disease, carotid artery dissection, Kabuki syndrome, Niikawa-Kuroki syndrome, transient ischemic attack, vascular anomaly
Kabuki (make-up) syndrome (KS), also known as Nikawa–Kuroki syndrome (named after its independent description in a case series by two authors in 1981), is a rare disease not fairly common outside Japan, with more than 350 cases described after 20 years of its first description.[
KS has a variable prevalence in part due to the lack of consensus on diagnostic criteria and the phenotype that tends to evolve over time based on five cardinal characteristics – mild-to-moderate mental retardation, dermatoglyphic abnormalities, skeletal anomalies, postnatal growth deficiencies, and principally on craniofacial anomalies.[
The genetic causes of the disease are diverse mutations in the KDM2T or in KDM6A genes that encode proteins histone modifiers which play an important role in immune system and embryogenic development;[
We present the case of a female born with birth weight 3.300 g by cesarean delivery in the 38th week due to labor dystocia after uneventful first pregnancy of a healthy 26-year-old (y-o) mother without addiction or continuous use of medication. Non consanguineous father; absence of neurological disease in the family. Left-hand was dominant. There was normal neuropsychomotor development until 5 years of age, when marked learning difficulties were observed at school. At 8 years, KS was diagnosed due to characteristic phenotypic traits such as eversion of the lower eyelid, elongated eyelid closure, arched eyebrows, long eyelashes, nasal tip facing down, high palate, and large and protruding pinna and fingertips with fetal aspect [
Brain Magnetic Resonance Imaging (MRI) in axial contrasted T1 (a), T2 (b), Flair (c), Diffusion (d) and Apparent Diffusion Coefficient (e). Hyperintense T2 lesion on right posterior white matter unattended signal alteration or contrast enhancement on T1 or diffusion restriction. It is a quite unspecific, may suggesting a possible gliosis probably due to another (previous) ischemic injury. Note: There are some artefacts on (d and e) images due to magnetic susceptibility by the dental appliance
Digital subtraction angiography (DSA) in frontal view. Occlusion of the right internal carotid artery (ICA) (a), with reperfusion of the right hemisphere by collaterals from the right external carotid artery (b), left ICA through anterior communicating artery(c) and temporal branches of posterior circulation (d)
Research was performed using PubMed database on articles published before 2016 September, using the following MESH terms: Kabuki syndrome, Kabuki makeup syndrome, Kabuki make-up syndrome, Kabuki make up syndrome or Niikawa-Kuroki syndrome combined with stroke, brain ischemia, brain hypoxia–ischemia, transient ischemic attack, cerebral infarction, carotid artery stenosis, carotid stenosis narrowing, vascular malformation, vascular anomaly, carotid arterial diseases, carotid arterial injury, or dissection. Only articles in English, Spanish, or Portuguese were included. A few articles met the review criteria.[
Structural central nervous system (CNS) anomalies in KS are rare, and comprise hydrocephalus, caused or not by aqueductal stenosis,[
Congenital heart and great vessels are relatively common, mostly aorta coarctation.[
This is the first case report, to our knowledge, involving an ischemic transient attack in a young patient with KS. Despite of a report of 25-year-old patient with KS and an acute myocardial infarction in the absence of classical risk factors, suggesting premature atherosclerosis,[
Spontaneous carotid artery dissection is an important cause of stroke in young adults with a gender predisposition to male sex and mainly risk factor hypertension.[
Kabuki is a rare multiple congenital anomaly syndrome. The characteristic syndromic findings should be recognized so that a comprehensive investigation can be performed. Case reports associated with other anomalies have been important, and can direct future research and maybe treatment.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
1. . Antiplatelet treatment compared with anticoagulation treatment for cervical artery dissection (CADISS): A randomised trial. Lancet Neurol. 14: 361-7
2. Anandan M, Porter NJ, Nemeth AH, Blair E, Downes SM. Coats-Type Retinal Telangiectasia in Case of Kabuki Make-Up Syndrome (Niikawa-Kuroki Syndrome). Ophthal Genet. 2005. 26: 181-3
3. Ben-Omran T, Teebi AS. Structural central nervous system (CNS) anomalies in Kabuki syndrome. Am J Med Genet Part A. 2005. 137A: 100-3
4. Bhat AH, Davenport J, Cocalis M. Partial Anomalous Left Pulmonary Artery along with Aortic Coarctation in an Infant with Kabuki Syndrome. Echocardiography. 2012. 29: E145-7
5. Blum CA, Yaghi S. Cervical Artery Dissection: A Review of the Epidemiology, Pathophysiology, Treatment, and Outcome. Arch Neurosci. 2015. 2: e26670-
6. Bögershausen N, Altunoglu U, Beleggia F, Yigit G, Kayserili H, Nürnberg P. An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity. Am J Med Genet Part A. 2016. 170: 3282-8
7. Bögershausen N, Wollnik B. Unmasking Kabuki syndrome. Clin Genet. 2013. 83: 201-11
8. Cheon C-K, Ko JM. Kabuki syndrome: Clinical and molecular characteristics. Korean J Pediatr. 2015. 58: 317-24
9. Chuah JL, Chuah JK, Brown R. New fundus findings in a case of Kabuki syndrome. Eye. 2008. 23: 1483-5
10. Dyamenahalli U, Abraham B, Fontenot E, Prasad V, Imamura M. Pathologic Aneurysmal Dilation of the Ascending Aorta and Dilation of the Main Pulmonary Artery in Patients with Kabuki Syndrome: Valve-sparing Aortic Root Replacement. Congenital Heart Dis. 2007. 2: 424-8
11. Kasuya H, Shimizu T, Nakamura S, Takakura K. Kabuki make-up syndrome and report of a case with hydrocephalus. Childs Nerv Syst. 1998. 14: 230-5
12. Liu S, Hong X, Shen C, Shi Q, Wang J, Xiong F. Kabuki syndrome: A Chinese case series and systematic review of the spectrum of mutations. BMC Med Genet. 2015. 16: 26-
13. Matsumoto N, Niikawa N. Kabuki make-up syndrome: A review. Am J Med Genet Part C Semin Med Genet. 2003. 117C: 57-65
14. Moral S, Zuccarino F, Loma-Osorio P. Double Aortic Arch: An Unreported Anomaly with Kabuki Syndrome. Pediatr Cardiol. 2008. 30: 82-4
15. Penders B, Schott N, Gerver W-JM, Stumpel CTRM. Body proportions in children with Kabuki syndrome. Am J Med Genet Part A. 2016. 170: 610-4
16. Rao AS, Makaroun MS, Marone LK, Cho JS, Rhee R, Chaer RA. Long-term outcomes of internal carotid artery dissection. J Vasc Surg. 2011. 54: 370-5
17. Sánchez-Carpintero R, Herranz A, Reynoso C, Zubieta JL. Dilated vein of Galen in Kabuki syndrome. Brain Dev. 2012. 34: 76-9
18. Shahdadpuri R, Lynch SA, Murchan H, McMahon CJ. A Novel Constellation of Cardiac Findings for Kabuki Syndrome: Hypoplastic Left Heart Syndrome and Partial Anomalous Pulmonary Venous Drainage. Pediatr Cardiol. 2008. 29: 820-2
19. Stagi S, Gulino AV, Lapi E, Rigante D. Epigenetic control of the immune system: A lesson from Kabuki syndrome. Immunol Res. 2016. 64: 345-59
20. Weir RAP, Alston AF, Ali MA-D. Acute myocardial infarction in Kabuki syndrome: Chance occurrence or a novel risk factor for premature atherosclerosis?. Int J Cardiol. 2014. 176: e26-8
21. Wessels MW, Brooks AS, Hoogeboom J, Niermeijer MF, Willems PJ. Kabuki syndrome: A review study of three hundred patients. Clin Dysmorphol. 2002. 11: 95-102
22. Yoshioka S, Takano T, Matsuwake K, Sokoda T, Takeuchi Y. A Japanese patient with Kabuki syndrome and unilateral perisylvian cortical dysplasia. Brain Dev. 2011. 33: 174-6