Journal of Convergence Korean Medicine (대한융합한의학회지)

Academy of Convergence Korean Medicine (대한융합한의학회)
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Moebius syndrome - About Pathogenesis, Clinical manifestations, Diagnosis, and Treatment of Moebius -

뫼비우스 증후군 - 발병기전, 임상양상, 진단 및 치료 -

  • Seung Ho Yu (Kyung Hee University Korean Medicine Hospital)
  • 유승호 (경희대학교 부속한방병원)
  • Received : 2021.04.22
  • Accepted : 2021.06.25
  • Published : 2021.06.30
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Abstract

Objectives: To review the concept of Moebius syndrome. Methods: Literature search was done to study definition, epidemiology, pathophysiology, clinical feature, and treatment of Moebius syndrome. Pubmed, RISS, Google scholarship and uptodate scholastic were used in the research. Search words were 'Moebius syndrome', 'treatment of Moebius syndrome'. Only English and Korean studies were assessed. Results: Moebius syndrome is rare disease characterized by nonprogressive congenital uni- or bi-lateral facial (VII cranial nerve) and abducens (VI cranial nerve) palsy. This facial palsy is found across the world, and its incidence is approximately 1 per 250,000. Moebius is diagnosed by clinical features. Facial palsy, eye abduction problem, limb deformities, global cerebral nerve impairment can be shown. Rehabilitation, smile surgery, and acupuncture can be used to treat this. Conclusion: Moebius syndrome's epidemiology, pathogenesis, treatment is still not fully revealed. It is known to be a congenital disease which didn't have exact treatment except surgery. But, it needs further study about exact treatment, diagnosis, and pathogenesis.

Keywords

References

  1. Verzijl HT, van der Zwaag B, Cruysberg JR, Padberg GW. Mobius syndrome redefined: a syndrome of rhombencephalic maldevelopment. Neurology. 2003;61(3):327-33.
  2. Cattaneo L, Chierici E, Bianchi B, et al. The localization of facial motor impairment in sporadic Mobius syndrome. Neurology. 2006; 66(12):1907-12.
  3. K McClure P, Kilinc E, Oishi S, et al. Mobius Syndrome: A 35-Year Single Institution Experience. J Pediatr Orthop. 2017;37(7):e446-e449. https://doi.org/10.1097/BPO.0000000000001009
  4. Hanissian AS, Fuste F, Hayes WT, Duncan JM. Mobius syndrome in twins. Am J Dis Child. 1970;120(5):472-5.
  5. MacKinnon S, Oystreck DT, Andrews C, et al. Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome. Ophthalmology. 2014;121(7):1461-8. https://doi.org/10.1016/j.ophtha.2014.01.006
  6. Slee JJ, Smart RD, Viljoen DL. Deletion of chromosome 13 in Moebius syndrome. J Med Genet. 1991;28(6):413-4.
  7. Picciolini O, Porro M, Cattaneo E, Castelletti S, Masera G, Mosca F, Bedeschi MF. Moebius syndrome: clinical features, diagnosis, management and early intervention. Ital J Pediatr. 2016;42(1):56.
  8. Briegel, W. Neuropsychiatric findings of Mobius sequence: A review. Clinical Genetics. 2006;70(2):91-7. https://doi.org/10.1111/j.1399-0004.2006.00649.x
  9. Suvarna, J., Bagnawar, M., Deshmukh, C. Moebius syndrome with total anomalous pulmonary venous connection. Indian Journal of Pediatrics. 2006;73(5):427-29.
  10. Miller, M., Stromland, K., Ventura, L., Johansson, M., Bandim, J., & Gillberg,C. Autism with ophthalmologic malformations: The plot thickens. Ophthalmological Society. 2004;102:107-21.
  11. Tomas-Roca L, Tsaalbi-Shtylik A, Jansen JG, Singh MK, Epstein JA, Altunoglu U, Verzijl H, Soria L, van Beusekom E, Roscioli T, Iqbal Z, Gilissen C, Hoischen A, de Brouwer AP, Erasmus C, Schubert D, Brunner H, Perez Aytes A, Marin F, Aroca P, Kayserili H, Carta A, de Wind N, Padberg GW, van Bokhoven H. De novo mutations in PLXND1 and REV3L cause Mobius syndrome. Nat Commun. 2015;6:7199.
  12. Broussard AB, Borazjani JG. The faces of Moebius syndrome: recognition and anticipatory guidance. MCN Am J Matern Child Nurs. 2008;33(5):272--8; quiz 279-80 https://doi.org/10.1097/01.NMC.0000334892.45979.d5
  13. Wood A, Rychlowska M, Korb S, Niedenthal P. Fashioning the face:sensory motor simulation contributes to facial expression recognition.Trends Cogn Sci. 2016;20(3):227-40. https://doi.org/10.1016/j.tics.2015.12.010
  14. Traboulsi, E. Congenital abnormalities of cranial nerve development: Overview, molecular mechanisms, and further evidence of heterogeneity and complexity of syndromes with congenital limitation of eye movement. Transactions of the American Ophthalmological Society. 2004;102:373-89.
  15. Pedraza S, Gamez J, Rovira A, et al. MRI findings in Mobius syn-drome: correlation with clinical features. Neurology. 2000;55(7):1058-60.
  16. Schmahmann JD. The cerebellum and cognition. Neurosci Lett. 2019;688:62-75. https://doi.org/10.1016/j.neulet.2018.07.005
  17. Rizos, M., Negron, R., Serman, N. Mobius syndrome with dental involvement: A case report and literature review. Cleft Palate-Craniofacial Journal. 1998;35(3):262-68.
  18. Sadeghi N, Hutchinson E, Van Ryzin C, FitzGibbon EJ, Butman JA, Webb BD, Facio F, Brooks BP, Collins FS, Jabs EW, Engle EC, Manoli I, Pierpaoli C. Moebius Syndrome Research Consortium. Brain phenotyping in Moebius syndrome and other congenital facial weakness disorders by diffusion MRI morphometry. Brain Commun. 2020;2(1):fcaa014.
  19. Calder, A., Keane, J., Cole, J., Campbell, R., & Young, A. Facial expression recognition by people with Mobius syndrome. Cognitive Neuropsychology. 2000;17(1):73-87.
  20. Briegel W. Self-perception of children and adolescents with Mobius sequence. Res Dev Disabil. 2012;33(1):54-9.
  21. Briegel W, Heinzel-Gutenbrunner M, Beate Y. Psychological adjustment of young subjects with Mobius sequence and their primary caregivers' strain and life satisfaction: First longitudinal data. Res Dev Disabil. 2019;85:42-9.
  22. Briegel W, Hofmann C, Schwab KO. Behaviour problems of patients with Moebius sequence and parental stress. J Paediatr Child Health. 2010;46(4):144-8.
  23. Strobel L, Renner G. Quality of life and adjustment in children and adolescents with Moebius syndrome: Evidence for specific impairments in social functioning. Res Dev Disabil. 2016;53-54:178-88.
  24. Hotton M, Huggons E, Hamlet C, Bogart K, Johnson D, Norris JH, Kilcoyne S, Dalton L. A Systematic Review of the Psychosocial Adjustment of Children and Adolescents with Facial Palsy: The Impact of Moebius Syndrome. Int J Environ Res Public Health. 2020;17(15):5528.
  25. Zuker, R., Goldberg, C., & Manktelow, R. Facial animation in children with Mobius syndrome after segmental gracilis muscle transplant. Plastic and Reconstructive Surgery. 2000;106(1):1-8.
  26. Goldberg, C., DeLorie, R., Zuker, R., & Manktelow, R. The effects of gracilis muscle transplantation on speech in children with Moebius syndrome. Journal of Craniofacial Surgery. 2003;14(5):687-90.
  27. Ferrari PF, Barbot A, Bianchi B, et al. A proposal for new neuro reh-abilitative intervention on Moebius syndrome patients after "smile surgery". Proof of concept based on mirror neuron system properties and hand-mouth synergistic activity. Neurosci Biobehav Rev. 2017;76(pt A):111-22.
  28. Hong KE. Prevalence and treatment pattern of korean patients with facial palsy. J Korean Acupunct Moxibustion Soc. 2010;27(3):137-46. 
  29. Won SY, Kim MJ, Cha JY, Jung ES, Jo HK, Yu HR, Seol IC, Kim YS. Systemic review of korean medicine treatment for abducens palsy. J Int Korean Med. 2019;40(3):409-24
  30. Jeong HI, Kim KH, Oh YT, Choi YM, Song BY, Kim JU, Yook TH. Korean Medicine for Treating Facial Palsy: - A Literature Review of Case Reports. J Pharmacopuncture. 2018;21(4):214-15. https://doi.org/10.3831/KPI.2018.21.025
  31. Kang GY, Lee HL, Han JK, Kim YH. A palliative review of 284 children and adolescents patients with peripheral facial paralysis visited korean medicine hospital. J Pediatrics Korean Med. 2014;28(4):45-63.  https://doi.org/10.7778/jpkm.2014.28.4.045