Kabuki Syndrome. Neurological disorders, case report

封面

如何引用文章

全文:

详细

Kabuki syndrome [Kabuki syndrome, Kabuki make-up syndrome, Niikawa-s: Kuroki syndrome] (КS) – refers to rare genetic disorders, in which are involved multiple systems of the body. Of the neurological manifestations in КS are characteristic microcephaly, floppy baby syndrome, sizures, abducens nerve palsy, delayed maturation of the sucking-swallowing refleх, hearing loss, mental retardation.

作者简介

Liudmila Sсhugareva

Children's Hospital №1, St. Petersburg, Russia; North-Western State Medical University named after I.I. Mechnikov, St. Petersburg, Russia

Email: neurodoctor@mail.ru

Ph. D, Professor, Department of Pediatric Neuropathology and Neurosurgery; Head of the Department of Neurology

俄罗斯联邦, 198205, Saint-Petersburg, Avangardnaya st, 14; 191015, Saint-Petersburg, Kirochnaya st, 41

Oksana Poteshkina

Children's Hospital №1; North-Western State Medical University named after I.I. Mechnikov

编辑信件的主要联系方式.
Email: ovpoteshkina@gmail.com
SPIN 代码: 9407-5169

Candidate of Medical Sciences, Associate Professor of the Department of Pediatric Neuropathology and Neurosurgery; neurologist

俄罗斯联邦, 198205, Saint-Petersburg, Avangardnaya st, 14; 191015, Saint-Petersburg, Kirochnaya st, 41

Svetlana Galaktionova

North-Western State Medical University named after I.I. Mechnikov

Email: gsm456633@yandex.ru

Clinical ordinator

俄罗斯联邦, 191015, Saint-Petersburg, Kirochnaya st, 41

参考

  1. Niikawa N, Matsuura N, Fukushima Y. 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. https://doi.org/10.1016/S0022-3476(81)80255-7.
  2. Kuroki Y, Suzuki Y, Chyo H. A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation. J Pediatrics. 1981; 99 (4): 570–573. https://doi.org/10.1016/s0022-3476(81)80256-9.
  3. Bokinni Y. Kabuki syndrome revisited. J Hum Genet. 201; 57(4): 223-227. https://doi.org/ 10.1038/jhg.2012.28.
  4. Ng SB, Bigham AW, Buckingham KJ. et al. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet . 2010; 42(9): 791-793. https://doi.org/ 10.1038/ng.646.
  5. Lederer D, Grisart B, Digilio MC. et al. Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome. AJHG. 2012; 90 (1): 119–124. https://doi.org/ 10.1016/j.ajhg.2011.11.021.
  6. Miyake N, Mizuno S, Okamoto N. et al. KDM6A point mutations cause Kabuki syndrome. Hum Mutat. 2013; 34 (1): 108-110. https://doi.org/ 10.1002/humu.22229.
  7. Banka S, Lederer D, Benoit V. et al. Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2). Clin Genet. 2014; 87 (3): 252–258. . https://doi.org/ 10.1111/cge.12363.
  8. Kawame H, Hannibal MC, Hudgins L. et al. Phenotypic spectrum and management issues in Kabuki syndrome. J Pediatr. 1999; 134(4): 480-485. https://doi.org/ 10.1016/s0022-3476(99)70207-6.
  9. Adam MP, Hudgins L. Kabuki syndrome: A review. Clin Genet. 2004; 67(3): 209–219. https://doi.org/ 10.1111/j.1399-0004.2004.00348.x.
  10. McVeigh TP, Banka S, Reardon W. Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia. Clin. Dysmorphol. 2015; 24(4):135-139. https://doi.org/ 10.1097/mcd.0000000000000092.
  11. Kim NG, Kim HJ, Hwang JM. Strabismus and poor stereoacuity associated with Kabuki syndrome. Korean J Ophthalmol. 2011; 25 (2): 136-137. https://doi.org/ 10.3341/kjo.2011.25.2.136.
  12. Grunseich C, Fishbein TM, Berkowitz F. et al. Tremor and deep brain nuclei hyperintensities in Kabuki syndrome. Pediatr Neurol. 2010; 43(2): 148-150. https://doi.org/ 10.1016/j.pediatrneurol.2010.03.019.
  13. Kurahashi N, Miyake N, Mizuno S. et al. Characteristics of epilepsy in patients with Kabuki syndrome with KMT2D mutations. Brain Dev. 2017; 39(8): 672-677. https://doi.org/ 10.1016/j.braindev.2017.03.025.
  14. Lodi M, Chifari R, Parazzini C. et al. Seizures and EEG pattern in Kabuki syndrome. A Brain Dev. 2010; 32(10): 829-834. https://doi.org/ 10.1016/j.braindev.2009.12.006.
  15. Ito H, Mori K, Inoue N. A case of Kabuki syndrome presenting West syndrome. Brain Dev. 2007; 29(6): 380-382. https://doi.org/10.1016/j.braindev.2006.11.005.
  16. Matsumoto N, Niikawa N. Kabuki Make-up Syndrome: A Review. J Med Genet. 2003;117 (1): 57– 65. https://doi.org/ 10.1002/ajmg.c.10020.
  17. Parisi L, Di Filippo T, Roccella M. Autism spectrum disorder in Kabuki syndrome: clinical, diagnostic and rehabilitative aspects assessed through the presentation of three cases. Pediatr. 2015; 67(4): 369-375.
  18. Morgan AT, Mei C, Da Costa A. et al. Speech and language in a genotyped cohort of individuals with Kabuki syndrome. J. Med. Genet. 2015; 167(7): 1483-1492. https://doi.org/ 10.1002/ajmg.a.37026.
  19. Caciolo С, Alfieri P, Piccini G. et al. Neurobehavioral features in individuals with Kabuki syndrome. Molecular Genetics & Genomic Medicine. 2018; 6(3): 322-331. https://doi.org/ 10.1002/mgg3.348.
  20. Verrotti A, Agostinelli S, Cirillo C. et al. Long-term outcome of epilepsy in Kabuki syndrome. Seizure. 2011; 20(8): 650-654. https://doi.org/ 10.1016/j.seizure.2011.06.005.
  21. Liu S, Hong X, Shen C, Shi Q. et al. Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations. BMC Med Genet. 2015; 16 (1):26. https://doi.org/ 10.1186/s12881-015-0171-4.
  22. Dentici ML, Di Pede A, Lepri FR. et al. Kabuki syndrome: clinical and molecular diagnosis in the first year of life. Archives of Disease in Childhood. 2015; 100(2):158-64. https://doi.org/10.1136/archdischild-2013-305858.
  23. Topcu Y, Bayram E, Karaoglu P. et al. Kabuki syndrome and perisylvian cortical dysplasia in a Turkish girl. J Pediatr Neurosci. 2013; 8(3): 259–260. https://doi.org/ 10.4103/1817-1745.123710.
  24. Yoshioka S, Takano T, Matsuwake K. et al. Japanese patient with Kabuki syndrome and unilateral perisylvian cortical dysplasia. Brain Dev. 2011; 33(2): 174-176. https://doi.org/ 10.1016/j.braindev.2010.04.001.
  25. Kasuya H, Shimizu T, Nakamura S. Kabuki make-up syndrome and report of a case with hydrocephalus. Childs Nerv Syst. 1998; 14(6): 230-235. https://doi.org/ 10.1007/s003810050218.
  26. Yuan SM. Congenital heart defects in Kabuki syndrome. Cardiol J. 2013; 20(2): 121-124. https://doi.org/ 10.5603/cj.2013.0023.
  27. Shah M., Bogucki B., Mavers M. Cardiac conduction abnormalities and congenital immunodeficiency in a child with Kabuki syndrome: case report. BMC Med Genet. 2005; 6 (1): 28. https://doi.org/ 10.1186/1471-2350-6-28.
  28. Lin JL, Lee WI, Huang JL. et al. Immunologic assessment and KMT2D mutation detection in Kabuki syndrome. Clin Genet. 2015; 88(3): 255–60. https://doi.org/10.1111/cge.12484.
  29. Stagi S, GulinoAV, Lapi E. et al. Epigenetic control of the immune system: A lesson from Kabuki syndrome. Immunol Res. 2015; 64(2): 345–359. https://doi.org/ 10.1007/s12026-015-8707-4.
  30. Lindsley AW. Saal HM, Burrow TA. et al. Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome. J Allergy Clin Immunol. 2016; 137 (1): 179–187. https://doi.org/ 10.1016/j.jaci.2015.06.002.
  31. Кондратенко И.В., Суспицын Е.Н., Вахлярская С.С. и др. Синдром Кабуки // Вопросы гематологии/онкологии и иммунопатологии в педиатрии. - 2017. – Т. 16. - № 4. – С. 75‒83. [Kondratenko IV, Suspitsyn EN, Vakhlyarskaya SS. i dr. Sindrom Kabuki. Voprosy gematologii/onkologii i immunopatologii v pediatrii. 2017; 16 (4): 75‒83 (in Rus.).]
  32. 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): 460–463. https://doi.org/ 10.1007/s00540-008-0656-9.
  33. Atalay Y, Kaya C, Ustun Y. et al. Anesthesia Management in a Patient with Kabuki Syndrome. Med Arch. 2014; 68(5): 359–360. https://doi.org/ 10.5455/medarh.2014.68.359-360.
  34. Cheon C, Sohn Y, Ko J. et al. Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome. J Hum Genet. 2014; 59(6): 321-325. https://doi.org/10.1038/jhg.2014.25.

补充文件

附件文件
动作
1. JATS XML

版权所有 © Sсhugareva L.M., Poteshkina O.V., Galaktionova S.M., 2019

Creative Commons License
此作品已接受知识共享署名 4.0国际许可协议的许可

##common.cookie##