EPILEPSY IN CHILDREN WITH MUCOPOLYSACCHARIDOSIS: EPIDEMIOLOGY, CLINICAL AND ELECTROENCEPHALOGRAPHIC FEATURES
Victoriya A. Aysina,
Aleksandr A. Buksh,
Ludmila M. Kuzenkova, 
Olga V. Kozhevnikova,
Vladislav V. Lebedev,
Andrey A. Gazaryan,
Tatyana V. Podkletnova,
Sofiya G. Popovich
Olga V. Kozhevnikova,
Vladislav V. Lebedev,
Andrey A. Gazaryan,
Tatyana V. Podkletnova,
Sofiya G. Popovich https://doi.org/10.15690/vsp.v17i3.1895
Abstract
The current knowledge of the causes and progression of epilepsy in patients with different types of mucopolysaccharidosis are presented. The article discusses the dynamics of electroencephalographic changes with age and in connection with the disease progression.
Keywords
children,
orphan diseases,
mucopolysaccharidosis,
epilepsy,
diagnosis,
electroencephalography,
video-EEG monitoring
Supporting agencies: Not specifie
About the Authors
Victoriya A. Aysina
National Medical Research Center of Children’s Health
Russian Federation
Disclosure of interest:
Russian Federation
Moscow
Disclosure of interest:
Not declared
Aleksandr A. Buksh
National Medical Research Center of Children’s Health
Russian Federation
Disclosure of interest:
Russian Federation
Moscow
Disclosure of interest:
Not declared
Ludmila M. Kuzenkova
National Medical Research Center of Children’s Health
Russian Federation
Disclosure of interest:
Russian Federation
Moscow
Disclosure of interest:
Not declared
Olga V. Kozhevnikova
National Medical Research Center of Children’s Health
Russian Federation
Disclosure of interest:
Russian Federation
Moscow
Disclosure of interest:
Not declared
Vladislav V. Lebedev
National Medical Research Center of Children’s Health
Russian Federation
Disclosure of interest:
Russian Federation
Moscow
Disclosure of interest:
Not declared
Andrey A. Gazaryan
National Medical Research Center of Children’s Health
Russian Federation
Disclosure of interest:
Russian Federation
Moscow
Disclosure of interest:
Not declared
Tatyana V. Podkletnova
National Medical Research Center of Children’s Health
Russian Federation
Disclosure of interest:
Russian Federation
Moscow
Disclosure of interest:
Not declared
Sofiya G. Popovich
National Medical Research Center of Children’s Health
Russian Federation
Disclosure of interest:
Russian Federation
Moscow
Disclosure of interest:
Not declared
References
1. Krasnopolskaya KD. Nasledstvennye bolezni obmena veshchestv. Spravochnoe posobie dlya vrachei. Moscow: Fokhat; 2005. 364 p. (In Russ).
2. Kulpanovich AI, Naumchik IV. Bolezni nakopleniya: mukopolisakharidoz I tipa. Meditsinskaya panorama. 2010;(2): 72–75. (In Russ).
3. Kulpanovich AI, Naumchik IV. Mucopolysaccharidosis type II. Zdravookhranenie (Minsk). 2011;(5):38–45. (In Russ).
4. Semiachkina AN, Novikov PV, Voskoboyeva EYu, et al. Mucop olysaccharidoses in children. Russian bulletin of perinatology and pediatrics. 2007;52(4):22–29. (In Russ).
5. Mukopolisakharidoz III tipa u detei. Klinicheskie rekomendatsii. Moscow: Soyuz pediatrov Rossii; 2016. (In Russ).
6. Osipova LA, Kuzenkova LM, Namazova-Baranova LS, et al. Neuronopathic types of mucopolysaccharidoses: pathogenesis and emerging treatments. Current pediatrics. 2015;14(5): 539–547. (In Russ). doi: 10.15690/vsp.v14i5.1436.
7. Wilkinson FL, Holley RJ, Langford-Smith KJ, et al. Neuropathology in mouse models of mucopolysaccharidosis type I, IIIA and IIIB. PLoS One. 2012;7(4):e35787. doi: 10.1371/journal.pone.0035787.
8. Andresen BS, Dobrowolski SF, O’Reilly L, et al. Mediumchain acylCoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observe in patients with clinical symptoms: identification and characterize of a new, prevalent mutation that results in mild MCAD deficiency. Am J Hum Genet. 2001;68(6):1408–1418. doi: 10.1086/320602.
9. Settembre C, Fraldi A, Medina DL, Ballabio A. Signals from the lysosome: a control centre for cellular clearance and energy metabolism. Nat Rev Mol Cell Biol. 2014;14(5):283–296. doi: 10.1038/nrm3565.
10. Tomatsu S, Shimada T, Mason RW, et al. Establishment of glycosaminoglycan assays for mucopolysaccharidoses. Metabolites. 2014;4(3):655–679. doi: 10.3390/metabo4030655.
11. Holt JB, Poe MD, Escolar ML. Natural progression of neurological disease in mucopolysaccharidosis type II. Pediatrics. 2011;127(5): e1258–1265. doi: 10.1542/peds.2010-1274.
12. Nasledstvennye narusheniya nervno-psikhicheskogo razvitiya detei. Rukovodstvo dlya vrachei. Ed by P.A. Temin, L.Z. Kazantseva. Moscow: Meditsina; 2001. (In Russ).
13. White K, Kim T, Neufeld JA. Clinical assessment and treatment of carpal tunnel syndrome in the mucopolysaccharidoses. J Pediatr Rehabil Med. 2010;3(1):57–62. doi: 10.3233/PRM-2010-0103.
14. Schwartz IV, Ribeiro MG, Mota JG, et al. A clinical study of 77 patients with mucopolysaccharidosis type II. Acta Paediatr. 2007; 96(455):63–70. doi: 10.1111/j.1651-2227.2007.00212.x.
15. Scarpa M, Lourenco CM, Amartino H. Epilepsy in mucopolysaccharidosis disorders. Mol Genet Metab. 2017;122S:55–61. doi: 10.1016/j.ymgme.2017.10.006.
16. Kuzenkova L, Podkletnova T, Namazova-Baranova L, et al. Particular features of neurological symptoms with children suffering from MPS syndrome type II. Mol Genet Metab. 2013;108:S56–S57.
17. Barone R, Cocuzza MD, Guida G, Miano G, Sofia V, Fiumara A. EEG features in patients with mucopolysaccharidoses III at different disease stages. J Inherit Metab Dis. 2016;39 Suppl 1:186.
18. Kriel RL, Hauser WA, Sung JH, Posalaky Z. Neuroanatomical and electroencephalographic correlations in Sanfilippo syndrome, type A. Arch Neurol. 1978;35(12):838–843. doi: 10.1001/archneur.1978.00500360062013.
19. Paolozzi C, Carlomagno S, Pascotto A, Guazzi GC. [Electroencephalography of various forms of mucopolysaccharidosis: serial studies of patients and occurence in close relatives. (In Italian).] Acta Neurol (Napoli). 1977;32(6):778–817.
20. Young ID, Harper PS, Archer IM, Newcombe RG. A clinical and genetic study of Hunter’s syndrome. 1. J Med Genet. 1982;19(6):401–407. doi: 10.1136/jmg.19.6.401.
21. Young ID, Harper PS. The natural history of the severe form of Hunter’s syndrome: a study based on 52 cases. Dev Med Child Neurol. 1983;25(4):481–489. doi: 10.1111/j.1469-8749.1983.tb13794.x.
22. Heron B, Mikaeloff Y, Froissart R, et al. Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece. Am J Med Genet A. 2011;155A(1):58–68. doi: 10.1002/ajmg.a.33779.
23. Nidiffer FD, Kelly TE. Developmental and degenerative patterns associated with cognitive, behavioural and motor difficulties in the Sanfilippo syndrome: an epidemiological study. J Ment Defic Res. 1983;27 (Pt 3):185–203. doi: 10.1111/j.1365-2788.1983.tb00291.x.
24. Cleary MA, Wraith JE. Management of mucopolysaccharidosis type III. Arch Dis Child. 1993;69(3):403–406. doi: 10.1136/adc.69.3.403.
25. Wijburg FA, Wegrzyn G, Burton BK, Tylki-Szymanska A. Mucopolysaccharidosis type III (Sanfilippo syndrome) and mis diagnosis of idiopathic developmental delay, attention deficit/ hyperactivity disorder or autism spectrum disorder. Acta Paediatr. 2013;102(5):462–470. doi: 10.1111/apa.12169.
26. Mahon LV, Lomax M, Grant S, et al. Assessment of sleep in children with mucopolysaccharidosis type III. PLoS One. 2014;9(2):e84128. doi: 10.1371/journal.pone.0084128.
27. Mukhin KYu, Petrukhin AS, Glukhova LYu. Epilepsiya. Atlas elektro-klinicheskoi diagnostiki. Moscow: Alvares Publishing; 2004. 440 p. (In Russ).
28. Opredelenie i klassifikatsiya epilepsii. Proekt Klassifikatsii epilepticheskikh pristupov 2016. K.Yu. Mukhin. (In Russ).
29. Fisher RS, Cross JH, French JA, et al. Operational classification of seizure types by the International League Against Epilepsy: Position Paper of the ILAE Commission for Classification and Terminology. Epilepsia. 2017;58(4):522–530. doi: 10.1111/epi.13670.
30. Beck M, et al. Hunter Outcome Survey: a survey of patients with mucopolysaсcharidosis II / 3rd World Symposium of the Lysosomal Desease Netwotk [poster]; 2006 Dec 7–9; Orlando, Florida, USA.
31. Shnaider NA, Shapovalova EA, Dmitrenko DV, et al. Epidemiology of children epilepsy. Siberian medical review. 2012;(2):44–50. (In Russ).
32. Guzeva VI, Guzeva OV, Guzeva VV. Role of video-EEG of monitoring in diagnostic epileptic and not epileptic paroxysmal states at children. Epilepsia and paroxyzmal conditions. 2010;2(3):12–19. (In Russ).
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For citations:
Aysina V.A., Buksh A.A., Kuzenkova L.M., Kozhevnikova O.V., Lebedev V.V., Gazaryan A.A., Podkletnova T.V., Popovich S.G. EPILEPSY IN CHILDREN WITH MUCOPOLYSACCHARIDOSIS: EPIDEMIOLOGY, CLINICAL AND ELECTROENCEPHALOGRAPHIC FEATURES. Current Pediatrics. 2018;17(3):250-253. (In Russ.) https://doi.org/10.15690/vsp.v17i3.1895
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