epilepsiaEpilepsy and paroxysmal conditionsЭпилепсия и пароксизмальные состояния2077-83332311-4088IRBIS LLCepilepsia-229Research ArticleORIGINAL ARTICLESОРИГИНАЛЬНЫЕ СТАТЬИKABUKI SYNDROME WITH EPILEPSY: CLINICAL CASEКЛИНИЧЕСКИЙ СЛУЧАЙ СИНДРОМА КАБУКИ, АССОЦИИРОВАННОГО С ЭПИЛЕПСИЕЙБоровиковаН. Ю.BorovikovaN. Yu.БоровиковК. С.BorovikovK. S.МухинК. Ю.MukhinK. Yu.МироновМ. Б.MironovM. B.Институт Детской Неврологии и Эпилепсии имени Святителя Луки, МоскваРоссияInstitute of Child Neurology and Epilepsy them. St. Luke, MoscowRussian Federation20113108201634813Copyright © Borovikova N.Y., Borovikov K.S., Mukhin K.Y., Mironov M.B., 20162016Боровикова Н.Ю., Боровиков К.С., Мухин К.Ю., Миронов М.Б.Borovikova N.Y., Borovikov K.S., Mukhin K.Y., Mironov M.B.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.epilepsia.su/jour/article/view/229

Kabuki syndrome is rare genetic disorder. Patients with this syndrome are phenotypically similar to Kabuki actors. The authors present a review article which describes the history, etiology, clinical features, diagnosis, and approaches to therapy of this syndrome. Special attention is description of a clinical case of Kabuki syndrome. Particularities of epilepsy clinical course, EEG patterns and treatment of girl with this syndrome were examined

КабукиэпилепсиясиндромkabukiepilepsysyndromeReferencesAbdel-Salam G., Afifi H., Eid M. et al. Anorectal anomalies, diaphragmatic defect, cleft palate, lower lip pits, hypopigmentation and hypogammaglobulinemia A in Kabuki syndrome: a rare combination // J. Genet. Couns. 2008; 19 (3): 309-17.Abdel-Salam G., Afifi H., Eid M. et al. Anorectal anomalies, diaphragmatic defect, cleft palate, lower lip pits, hypopigmentation and hypogammaglobulinemia A in Kabuki syndrome: a rare combination // J. Genet. Couns. 2008; 19 (3): 309-17.Albesa S., Astorqui В., Ocio I. Kabuki syndrome in the differential diagnosis of neonatal hypotonia // J.An. Pediatr. 2009; 70 (1): 91-93.Albesa S., Astorqui В., Ocio I. Kabuki syndrome in the differential diagnosis of neonatal hypotonia // J.An. Pediatr. 2009; 70 (1): 91-93.Barozzi S., Di Berardino F., Atzeri F. et al. Audiological and vestibular findings in the Kabuki syndrome // J. Med. Genet. 2009; 149A (2):171-176.Barozzi S., Di Berardino F., Atzeri F. et al. Audiological and vestibular findings in the Kabuki syndrome // J. Med. Genet. 2009; 149A (2):171-176.Bereket A., Turan S., Alper G. et al. Two patients with Kabuki syndrome presenting with endocrine problems // J. Pediatr. Endocrinol. Metab. 2001; 14 (2): 215-20.Bereket A., Turan S., Alper G. et al. Two patients with Kabuki syndrome presenting with endocrine problems // J. Pediatr. Endocrinol. Metab. 2001; 14 (2): 215-20.Chen Н. Аtlas of genetic diagnosis and counseling. Humana press, 2006: 559-562.Chen Н. Аtlas of genetic diagnosis and counseling. Humana press, 2006: 559-562.Chrzanowska K. Kabuki (Niikawa-Kuroki) syndrome associated with immunodeficiency // J. Clin. Genet. 1998; 53 (4): 308-12.Chrzanowska K. Kabuki (Niikawa-Kuroki) syndrome associated with immunodeficiency // J. Clin. Genet. 1998; 53 (4): 308-12.Cogulu D., Oncag O., Celen E. et al. Kabuki Syndrome with additional dental findings: a case report // J. Dent. Child. (Chic.). 2008; 75 (2): 185-187.Cogulu D., Oncag O., Celen E. et al. Kabuki Syndrome with additional dental findings: a case report // J. Dent. Child. (Chic.). 2008; 75 (2): 185-187.Di Gennaro G., Sebastiano F., Quarato P. et al. Temporo-occipital spikes: Are they so typical for Kabuki syndrome? // J. Ped. Neurol. 2004; 31 (5): 379.Di Gennaro G., Sebastiano F., Quarato P. et al. Temporo-occipital spikes: Are they so typical for Kabuki syndrome? // J. Ped. Neurol. 2004; 31 (5): 379.Di Gennaro G., Condoluci C., Casali C. et al. Epilepsy and polymicrogyria in Kabuki make-up (Niikawa-Kuroki) syndrome // J. Ped. Neurol. 1999; 21 (2): 566-568.Di Gennaro G., Condoluci C., Casali C. et al. Epilepsy and polymicrogyria in Kabuki make-up (Niikawa-Kuroki) syndrome // J. Ped. Neurol. 1999; 21 (2): 566-568.Engelen J., Loneus W., Vaes-Peeters G., Schrander-Stumpel C. Kabuki syndrome is not caused by an 8p duplication: a cytogenetic study in 20 patients // American J. of Med. Genet. 2004; 132A (3): 276-277.Engelen J., Loneus W., Vaes-Peeters G., Schrander-Stumpel C. Kabuki syndrome is not caused by an 8p duplication: a cytogenetic study in 20 patients // American J. of Med. Genet. 2004; 132A (3): 276-277.Evans S., Kumar N., Rashid M. et al. New ocular findings in a case of Kabuki syndrome // J. Eye 2004; 18: 322–324.Evans S., Kumar N., Rashid M. et al. New ocular findings in a case of Kabuki syndrome // J. Eye 2004; 18: 322–324.Galаn-Gоmez E., Cardesa-Garcia J., CampoSampedro F. et al. Kabuki make-up (Niikawa-Kuroki) syndrome in five Spanish children // J.Med. Genet. 1995; 59 (3): 276-82.Galаn-Gоmez E., Cardesa-Garcia J., CampoSampedro F. et al. Kabuki make-up (Niikawa-Kuroki) syndrome in five Spanish children // J.Med. Genet. 1995; 59 (3): 276-82.Gillis R., Klar A., Gross-Kieselstein E. The Niikawa-Kuroki (Kabuki make-up) syndrome in a Moslem Arab child // J. Clin Genet. 1990; 38 (5): 378-81.Gillis R., Klar A., Gross-Kieselstein E. The Niikawa-Kuroki (Kabuki make-up) syndrome in a Moslem Arab child // J. Clin Genet. 1990; 38 (5): 378-81.Grunseich C., Fishbein T., Berkowitz F. et al. Tremor and deep brain nuclei hyperintensities in Kabuki syndrome // Pediatr. Neurol. 2010; 43 (2): 148-150.Grunseich C., Fishbein T., Berkowitz F. et al. Tremor and deep brain nuclei hyperintensities in Kabuki syndrome // Pediatr. Neurol. 2010; 43 (2): 148-150.Halal F., Gledhill R., Dudkiewicz A. Autosomal dominant inheritance of the Kabuki make-up (Niikawa-Kuroki) syndrome // J. Med. Genet. 1989; 33 (3): 376-81.Halal F., Gledhill R., Dudkiewicz A. Autosomal dominant inheritance of the Kabuki make-up (Niikawa-Kuroki) syndrome // J. Med. Genet. 1989; 33 (3): 376-81.Hannibal M., Buckingham K., Ng S., Ming J., Beck A., McMillin M., Gildersleeve H., Bigham A., Tabor H., Mefford H., Cook J., Yoshiura K., Matsumoto T., Matsumoto N., Miyake N., Tonoki H., Naritomi K., Kaname T., Nagai T., Ohashi H., Kurosawa K., Hou J., Ohta T., Liang D., Sudo A., Morris C., Banka S., Black G., Clayton-Smith J., Nickerson D., Zackai E., Shaikh T., Donnai D., Niikawa N., Shendure J., Bamshad M. Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome // Am.J.Med.Genet.A. – 2011. – 155A (7): 1511-1516.Hannibal M., Buckingham K., Ng S., Ming J., Beck A., McMillin M., Gildersleeve H., Bigham A., Tabor H., Mefford H., Cook J., Yoshiura K., Matsumoto T., Matsumoto N., Miyake N., Tonoki H., Naritomi K., Kaname T., Nagai T., Ohashi H., Kurosawa K., Hou J., Ohta T., Liang D., Sudo A., Morris C., Banka S., Black G., Clayton-Smith J., Nickerson D., Zackai E., Shaikh T., Donnai D., Niikawa N., Shendure J., Bamshad M. Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome // Am.J.Med.Genet.A. – 2011. – 155A (7): 1511-1516.Hoffman J., Zhang Y., Greshock J. et al. Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome // J. Med. Genet. 2005; 42 (1): 49-53.Hoffman J., Zhang Y., Greshock J. et al. Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome // J. Med. Genet. 2005; 42 (1): 49-53.Hughes H., Davies S. Coarctation of the aorta in Kabuki syndrome // J. Archives of Disease in Childhood 1994; 70 (6): 512-4.Hughes H., Davies S. Coarctation of the aorta in Kabuki syndrome // J. Archives of Disease in Childhood 1994; 70 (6): 512-4.Igawa H., Nishizawa N., Sugihara T. et al. Inner ear abnormalities in Kabuki make-up syndrome: report of three cases // J. Med. Genet. 2000; 92 (2): 87-9.Igawa H., Nishizawa N., Sugihara T. et al. Inner ear abnormalities in Kabuki make-up syndrome: report of three cases // J. Med. Genet. 2000; 92 (2): 87-9.Ilyina H., Lurie I., Naumtchik I. et al. Kabuki make-up (Niikawa-Kuroki) syndrome in the Byelorussian register of congenital malformations: ten new observations // American J. of Med. 1995; 56 (2): 127-131.Ilyina H., Lurie I., Naumtchik I. et al. Kabuki make-up (Niikawa-Kuroki) syndrome in the Byelorussian register of congenital malformations: ten new observations // American J. of Med. 1995; 56 (2): 127-131.Isidor B., Rio M., Mourier O. et al. Kabuki syndrome and neonatal cholestasis: report of a new case and review of the literature // J. Pediatr. Gastroenterol. Nutr. 2007; 45 (2): 261-264.Isidor B., Rio M., Mourier O. et al. Kabuki syndrome and neonatal cholestasis: report of a new case and review of the literature // J. Pediatr. Gastroenterol. Nutr. 2007; 45 (2): 261-264.Ito Н., Moria К., Inouea N. et al. Case report. A case of Kabuki syndrome presenting West syndrome // J. Brain and Dev. 2007; 29 (6): 380-382.Ito Н., Moria К., Inouea N. et al. Case report. A case of Kabuki syndrome presenting West syndrome // J. Brain and Dev. 2007; 29 (6): 380-382.Kara В., Kayserili Н., Imer М. et al. Case report. Quadrigeminal Cistern Arachnoid Cyst in a Patient With Kabuki Syndrome // J. Ped. Neurol. 2006; 34 (6): 478-480.Kara В., Kayserili Н., Imer М. et al. Case report. Quadrigeminal Cistern Arachnoid Cyst in a Patient With Kabuki Syndrome // J. Ped. Neurol. 2006; 34 (6): 478-480.Kawame Н., Hannibal М., Hudgins L. et al. Phenotypic spectrum and management issues in Kabuki syndrome // J. of Pediatrics 1999; 134 (4): 480-485.Kawame Н., Hannibal М., Hudgins L. et al. Phenotypic spectrum and management issues in Kabuki syndrome // J. of Pediatrics 1999; 134 (4): 480-485.Kimberley К., Morris С., Hobart Н. BAC-FISH refutes report of an 8p22–8p23.1 inversion or duplication in 8 patients with Kabuki syndrome // J. BMC Med.Genet. 2006; 7: 46.Kimberley К., Morris С., Hobart Н. BAC-FISH refutes report of an 8p22–8p23.1 inversion or duplication in 8 patients with Kabuki syndrome // J. BMC Med.Genet. 2006; 7: 46.Kuroki Y., Suzuki Y., Chyo H. et al. A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation // J. Pediatr. 1981; 99: 570-573.Kuroki Y., Suzuki Y., Chyo H. et al. A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation // J. Pediatr. 1981; 99: 570-573.Lodi M., Chifari R., Parazzini C. et al. Seizures and EEG pattern in Kabuki syndrome// Brain Dev. 2010; 32 (10): 829-34.Lodi M., Chifari R., Parazzini C. et al. Seizures and EEG pattern in Kabuki syndrome// Brain Dev. 2010; 32 (10): 829-34.Ma K., Chow S., Yau F. Isolated adrenocorticotropin deficiency in a child with Kabuki syndrome // J. Pediatr. Endocrinol. Metab. 2005; 18 (6): 607-609.Ma K., Chow S., Yau F. Isolated adrenocorticotropin deficiency in a child with Kabuki syndrome // J. Pediatr. Endocrinol. Metab. 2005; 18 (6): 607-609.Milunsky J., Huang X. Unmasking Kabuki syndrome: chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH // J. Clin. Genet. 2008; 73 (5): 502-503.Milunsky J., Huang X. Unmasking Kabuki syndrome: chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH // J. Clin. Genet. 2008; 73 (5): 502-503.Mitsudome A., Yasumoto S., Fukami S. et al. Kabuki make-up syndrome associated with West syndrome // J. Acta Paediatr. 1997; 39 (3): 392-394.Mitsudome A., Yasumoto S., Fukami S. et al. Kabuki make-up syndrome associated with West syndrome // J. Acta Paediatr. 1997; 39 (3): 392-394.Miyake N., Harada N., Shimokawa O. et al. On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS // American J. of Med.Genet. 2004; 128 A (2): 170-172.Miyake N., Harada N., Shimokawa O. et al. On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS // American J. of Med.Genet. 2004; 128 A (2): 170-172.Moral S., Zuccarino F., Loma-Osorio P. Double aortic arch: an unreported anomaly with kabuki syndrome // J. Pediatr Cardiol. 2009; 30 (1): 82-4.Moral S., Zuccarino F., Loma-Osorio P. Double aortic arch: an unreported anomaly with kabuki syndrome // J. Pediatr Cardiol. 2009; 30 (1): 82-4.Niikawa N., Kuroki Y., Kajii T. et al. Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients // J. Med. Genet. 1988; 31 (3): 565-89.Niikawa N., Kuroki Y., Kajii T. et al. Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients // J. Med. Genet. 1988; 31 (3): 565-89.Niikawa N., Matsuura N., Fukushima Y. et al. Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency // J. Pediatrics 1981; 99 (4): 565-569.Niikawa N., Matsuura N., Fukushima Y. et al. Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency // J. Pediatrics 1981; 99 (4): 565-569.Ogawa А., Yasumoto S., Tomoda Y. et al. Favorable Seizure Outcome in Kabuki Makeup Syndrome Associated With Epilepsy // J. of Child Neurol. 2003; 18 (8): 549-551.Ogawa А., Yasumoto S., Tomoda Y. et al. Favorable Seizure Outcome in Kabuki Makeup Syndrome Associated With Epilepsy // J. of Child Neurol. 2003; 18 (8): 549-551.Oksanen V., Arvio M., Peippo M. et al. Temporo-occipital spikes: a typical EEG finding in Kabuki syndrome // J. Ped. Neurol. 2004; 30 (1): 67-70.Oksanen V., Arvio M., Peippo M. et al. Temporo-occipital spikes: a typical EEG finding in Kabuki syndrome // J. Ped. Neurol. 2004; 30 (1): 67-70.Oto J., Mano A., Nakataki E. et al. An adult patient with Kabuki syndrome presenting with Henoch-Schönlein purpura complicated with pulmonary hemorrhage // J. Anesth. 2008; 22 (4): 460-3.Oto J., Mano A., Nakataki E. et al. An adult patient with Kabuki syndrome presenting with Henoch-Schönlein purpura complicated with pulmonary hemorrhage // J. Anesth. 2008; 22 (4): 460-3.Philip N., Meinecke P., David A. et al. Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 16 non-Japanese cases // J. Clin. Dysmorphol. 1992; 1 (2): 63-77.Philip N., Meinecke P., David A. et al. Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 16 non-Japanese cases // J. Clin. Dysmorphol. 1992; 1 (2): 63-77.Powell Н., Hart Р., Sisodiya S. Case Report. Epilepsy and perisylvian polymicrogyria in a patient with Kabuki syndrome // J. Dev. Med. & Child Neurol. 2003; 45 (12): 841-843.Powell Н., Hart Р., Sisodiya S. Case Report. Epilepsy and perisylvian polymicrogyria in a patient with Kabuki syndrome // J. Dev. Med. & Child Neurol. 2003; 45 (12): 841-843.Prasher V., Kerr M. Epilepsy and Intellectual Disabilities. Springer, 2008: 50.Prasher V., Kerr M. Epilepsy and Intellectual Disabilities. Springer, 2008: 50.Roccella M. Niikawa-Kuroki syndrome //J.Minerva Pediatr. 1999; 51(7-8): 271-8.Roccella M. Niikawa-Kuroki syndrome //J.Minerva Pediatr. 1999; 51(7-8): 271-8.Sari В., Karaer К., Bodur S. et al. Case Report: Autistic Disorder in Kabuki Syndrome // J. Autism Dev. Disord. 2008; 38: 198–201.Sari В., Karaer К., Bodur S. et al. Case Report: Autistic Disorder in Kabuki Syndrome // J. Autism Dev. Disord. 2008; 38: 198–201.Scherer S., Theile U., Beyer V. et al. Clinical Report. Patient with Kabuki syndrome and acute leukaemia // American J. of Med. Genet. 2003; 122A (1): 76-79.Scherer S., Theile U., Beyer V. et al. Clinical Report. Patient with Kabuki syndrome and acute leukaemia // American J. of Med. Genet. 2003; 122A (1): 76-79.Sert А., Atabek М., Pirgon О. Case reports two new Kabuki cases of Kabuki make-up syndrome // Marmara Med. J. 2006; 19 (2): 86-89.Sert А., Atabek М., Pirgon О. Case reports two new Kabuki cases of Kabuki make-up syndrome // Marmara Med. J. 2006; 19 (2): 86-89.Spano G., Campus G., Bortone A. et al. Oral features in Kabuki make-up Syndrome // Eur. J. Paediatr. Dent. 2008; 9 (3): 149-152.Spano G., Campus G., Bortone A. et al. Oral features in Kabuki make-up Syndrome // Eur. J. Paediatr. Dent. 2008; 9 (3): 149-152.Suskind D., Finn L., Wahbeh G. et al. A child with Kabuki syndrome and primary sclerosing cholangitis successfully treated with ursodiol and cholestryamine // J. Pediatr. Gastroenterol. Nutr. 2006; 43 (4): 542-544.Suskind D., Finn L., Wahbeh G. et al. A child with Kabuki syndrome and primary sclerosing cholangitis successfully treated with ursodiol and cholestryamine // J. Pediatr. Gastroenterol. Nutr. 2006; 43 (4): 542-544.Turner С., Lachlan К., Amerasinghe N. et al. Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort // European J. of Hum. Genet. 2005; 13: 716–720.Turner С., Lachlan К., Amerasinghe N. et al. Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort // European J. of Hum. Genet. 2005; 13: 716–720.Van Lierde К., Van Borsel J., Van Cauwenberge P. Speech patterns in kabuki make-up syndrome: а case report // J. of Communication Disorders 2000; 33 (6): 447-462.26Van Lierde К., Van Borsel J., Van Cauwenberge P. Speech patterns in kabuki make-up syndrome: а case report // J. of Communication Disorders 2000; 33 (6): 447-462.26Verrotti A., Agostinelli S., Cirillo C. et al. Long-term outcome of epilepsy in Kabuki syndrome. Seizure // 2011; 20 (8): 650-654.Verrotti A., Agostinelli S., Cirillo C. et al. Long-term outcome of epilepsy in Kabuki syndrome. Seizure // 2011; 20 (8): 650-654.Yoshioka S., Takano T., Matsuwake K. et al. A Japanese patient with Kabuki syndrome and unilateral perisylvian cortical dysplasia // Brain Dev. 2011; 33 (2): 174-176.Yoshioka S., Takano T., Matsuwake K. et al. A Japanese patient with Kabuki syndrome and unilateral perisylvian cortical dysplasia // Brain Dev. 2011; 33 (2): 174-176.

The authors declare that there are no conflicts of interest present.