MOEBIUS SYNDROME IN THE PRACTICE OF A NEUROLOGIST (Clinical Cases)
https://doi.org/10.24412/2790-1289-2023-1-49-52
Abstract
Mobius syndrome is a rare pathology of the nervous system, which is presented by an anomaly in the structure of the cranial nerves. For the first time, the pathology was described by the neurologist Paul Möbius and to this day is a poorly understood anomaly. There are several theories of the development of this syndrome, but none of them is recognized as dominant. Therefore, Mobius syndrome is considered as a multifactorial syndrome. Precise diagnostic criteria for this syndrome do not exist, and the inconsistency of associated features makes identification difficult. This article provides a description of two clinical cases of this rare syndrome, which in turn will help the practicing neurologist to better verify this syndrome.
About the Authors
A. Turmanbetova
NEI «Kazakh-Russian Medical University»
Kazakhstan
Kazakhstan
Arailym Turmanbetova, doctoral student of the 1st year of study in the educational program "Medicine"
Almaty
Zh. Nukebaeva
NEI «Kazakh-Russian Medical University»
Kazakhstan
Kazakhstan
Zhuldyz Nukebaeva
Almaty
M. Lepessova
NEI «Kazakh-Russian Medical University»
Kazakhstan
Kazakhstan
Marzhan Lepessova
Almaty
References
1. Abramson D.L., Cohen M.M. Jr., Mulliken J.B. Möbius syndrome: classification and grading system. Plast Reconstr Surg. 1998 Sep; 102(4):961-7. doi: 10.1097/00006534-199809040-00004. PMID: 9734409.
2. Vyas S., Prabhakar A., Bhanu K.U., Singh P., Khandelwal N. Möbius syndrome. J Neurosci Rural Pract. 2016 Oct-Dec; 7(4):596-597. doi: 10.4103/0976-3147.186974. PMID: 27695248; PMCID: PMC5006480.
3. Kim N., Kim J.H., Kim J.S., Hwang J.M. Möbius syndrome: clinico-radiologic correlation. Graefes Arch Clin Exp Ophthalmol. 2018 Nov; 256(11):2219-2223. doi: 10.1007/s00417-018-4089-3. Epub 2018 Aug 1. PMID: 30069750.
4. Ouanounou S., Saigal G., Birchansky S. Möbius syndrome. AJNR Am J Neuroradiol. 2005 Feb; 26(2):430-2. PMID: 15709151; PMCID: PMC7974090.
5. Bell C., Nevitt S., McKay V.H., Fattah AY. Will the real Moebius syndrome please stand up? A systematic review of the literature and statistical cluster analysis of clinical features. Am J Med Genet A. 2019 Feb; 179(2):257-265. doi: 10.1002/ajmg.a.60683. Epub 2018 Dec 17. PMID: 30556292.
6. Pedraza S., Gámez J., Rovira A., Zamora A., Grive E., Raguer N., Ruscalleda J. MRI findings in Möbius syndrome: correlation with clinical features. Neurology. 2000 Oct 10;55(7):1058-60. doi: 10.1212/wnl.55.7.1058. PMID: 11061273.
7. Kuhn M.J., Clark H.B., Morales A., Shekar P.C. Group III Möbius syndrome: CT and MR findings. AJNR Am J Neuroradiol. 1990 Sep-Oct;11(5):903-4. PMID: 2120994; PMCID: PMC8334103.
8. Tomas-Roca L., Tsaalbi-Shtylik A., Jansen J.G., Singh M.K., Epstein J.A., Altunoglu U., Verzijl H., Soria L., van Beusekom E., Roscioli T., Iqbal Z., Gilissen C., Hoischen A., de Brouwer APM, Erasmus C., Schubert D., Brunner H., Pérez Aytés A., Marin F., Aroca P., Kayserili H., Carta A., de Wind N., Padberg G.W., van Bokhoven H. De novo mutations in PLXND1 and REV3L cause Möbius syndrome. Nat Commun. 2015 Jun 12; 6:7199. doi: 10.1038/ncomms8199. PMID: 26068067; PMCID: PMC4648025.
9. 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 Jun 3;42 (1):56. doi: 10.1186/s13052-016-0256-5. PMID: 27260152; PMCID: PMC4893276.
10. Telich-Tarriba J.E., Navarro-Barquin D.F., Verdezoto-Gaibor K., Cardenas-Mejia A. Prevalence of Hand Malformations in Patients with Moebius Syndrome and Their Management. Hand (N Y). 2022 Nov;17 (6):1292-1296. doi: 10.1177/1558944721994265. Epub 2021 Mar 1. PMID: 33641474; PMCID: PMC9608308.
11. K. McClure, Philip MD.; Kilinc, Eray MD.; Oishi, Scott MD.; I. Riccio, Anthony MD; A. Karol, Lori MD. Mobius Syndrome: A 35 – Year Single Institution Experience. Journal of Pediatric Orthopaedics 37(7): p e446-e449, October/November 2017. DOI: 10.1097/BPO.0000000000001009.
Review
For citations:
Turmanbetova A., Nukebaeva Zh., Lepessova M. MOEBIUS SYNDROME IN THE PRACTICE OF A NEUROLOGIST (Clinical Cases). Actual Problems of Theoretical and Clinical Medicine. 2023;(1):49-52. (In Russ.) https://doi.org/10.24412/2790-1289-2023-1-49-52
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