MECP2 mutasyonu saptanan Rett sendromu tanılı pediatrik hastalarin klinik ve nöbet özelliklerinin değerlendirilmesi

Year 2021, Volume: 12 Issue: 1, 65 - 69, 31.03.2021

Serkan Kırık , Mahmut Aslan , Bilge Özgör , Serdal Güngör

https://doi.org/10.18663/tjcl.578475

Abstract

Rett sendromu, büyük oranda kızlarda  görülen nörogelişimsel bir bozukluktur. X kromozomu üzerindeki metil CpG bağlayıcı protein 2 (MECP2) genindeki mutasyonların bir sonucu olarak ortaya çıkar. Hastalık kendini 6-18 ay arası normal gelişim basamaklarının tamamlanmasının ardından gelişen psikomotor gerilik ve amaçsız el hareketleriyle gösterir. Sıklıkla mikrosefali eşlik eder. Rett sendromu tanısı klinik bir tanıdır ve moleküler analiz tanı için destekleyici bir unsurdur. Bu çalışmada, üçüncü basamak pediatrik nöroloji kliniğimizde izlenen Rett Sendromu tanılı 9 hastanın nöbetlerini ve klinik özelliklerini araştırdık. Artan farkındalık, özellikle otizm ve mikrosefali ile başvuran kız hastalara erken tanı ve uygun tedavi sağlarken, tanı için gereksiz  testlerin yapılmasını da önler.

Keywords

Rett sendromu, MECP2 Mutasyonu, Pediatrik

Evaluation of seizures and clinical features of pediatric patients diagnosed with Rett Syndrome who were detected to have MECP2 mutation

Abstract

Rett syndrome is a neurodevelopmental disorder largely seen in girls. It occurs as a result of the mutations in methyl CpG binding protein 2 (MECP2) gene on X chromosome. The disease shows itself with psychomotor retardation and purposeless hand movements that are developed after normal development stages between months 6-18. It is frequently accompanied by microcephalia. Rett syndrome diagnosis is a clinical diagnosis, and molecular analysis is a supportive element for diagnosis. In this study, we have investigated seizures and clinical features of 9 patients monitored in our third line pediatric neurology clinic with Rett Syndrome diagnosis. Increased awareness provides early diagnosis and suitable treatment for female patients applied with otism and microcephalia in particular, and it is also important for preventing unnecessary diagnostic tests.

Keywords

Rett syndrome, MECP2 mutation, pediatric

References

• Dolce A, Ben-Zeev B, Naidu S, Kossoff EH. Rett syndrome and epilepsy: an update for child neurologists. Pediatr Neurol. 2013; 48: 337-45.
• Neul JL, Kaufmann WE, Glaze DG, et al. Rett syndrome: revised diagnostic criteria and nomenclature. Ann Neurol. 2010; 68: 944-950.
• Smeets EE, Pelc K, Dan B. Rett Syndrome. Mol Syndromol 2012; 2: 113-127.
• Tarquinio DC, Motil KJ, Hou W, et al. Growth failure and outcome in Rett syndrome: specific growth references. Neurology. 2012; 79: 1653-61.
• Fisher RS, Cross JH, D'Souza C, French JA, Haut SR, Higurashi N, et al. Instruction manual for the ILAE 2017 operational classification of seizure types. Epilepsia. 2017; 58: 531-42.
• Chahrour M, Zoghbi HY. The story of Rett syndrome: From clinic to neurobiology. Neuron. 2007; 56: 422-37.
• Nissenkorn A, Gak E, Vecsler M, Reznik H, Menascu S, Ben Zeev B. Epilepsy in Rett syndromed-The experience of a National Rett Center. Epilepsia. 2010; 51: 1252-8.
• Naidu S, Johnston MV. Neurodevelopmental disorders: Clinical criteria for Rett syndrome. Nat Rev Neurol. 2011; 7: 312-4.
• Glaze DG, Frost JD Jr, Zoghbi HY, Percy AK. Rett’s syndrome. Correlation of electroencephalographic characteristics with clinical staging. Arch Neurol. 1987; 44: 1053-6.
• Glaze DG, Percy AK, Skinner S, et al. Epilepsy and the natural history of Rett syndrome. Neurology. 2010; 74: 909-12.
• Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. Rett syndrome is caused by mutation in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet. 1999; 23: 185-8.
• Cuddapah VA, Pillai RB, Shekar KV, et al. Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome. J Med Genet. 2014; 51: 152-8.
• Adegbola AA, Gonzales ML, Chess A, LaSalle JM, Cox GF. A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype. Hum Genet. 2009; 124: 615-23.
• Artuso R, Mencarelli MA, Polli R, et al. Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria. Brain Dev 2010; 32: 17-24.
• Krajnc N, Župančič N, Oražem J. Epilepsy treatment in Rett syndrome. J Child Neurol. 2011; 26: 1429-33.
• Vignoli A, Savini MN, Nowbut MS, Peron A, Turner K, La Briola F, Canevini MP. Effectiveness and tolerability of antiepileptic drugs in 104 girls with Rett syndrome. Epilepsy Behav. 2017; 66: 27-33.
• Tarquinio DC, Hou W, Berg A, Kaufmann WE, Lane JB, Skinner SA, Motil KJ, Neul JL, Percy AK, Glaze DG. Longitudinal course of epilepsy in Rett syndrome and related disorders. Brain. 2017; 140: 306-18.