Atipik Rett Sendromu ve Otizm Birlikteliği

Year 2015, Volume: 5 Issue: 4, 228 - 231, 17.12.2015

Hilal Aydın , Nimet Kabakuş Mustafa Erkoçoğlu

Abstract

Rett sendromu (RS) nörogeliıimsel bozukluklar arasşnda yer alan ve değiıik nöropsikiyatrik bulgular gösterebilen nörodejeneratif bir hastalşktşr. Bu sendroma sahip bebekler 6-18 aya kadar normalken, sonrasşnda nöromotor retardasyon ve sterotipik el hareketleri görülmektedir. Bu yazşmşzda çeıitli merkezlerde uzun süreli takiplerinde otizm, serebral palsi, nörometabolik hastalşk ön tanşlarş ile izlenen ve kliniğimizde atipik Rett sendromu tanşsşnş alan olgumuz sunuldu. ( Sakarya Med J 2015, 5(4):228-231 )

Anahtar Kelimeler: MECP2 heterozigot gen mutasyonu Otizm Atipik Rett sendromu

Keywords

MECP2 heterozigot gen mutasyonu, Otizm, Atipik Rett sendromu

References

• Balmer D, Arredondo , Samaco RC. MECP2 mutations in Rett syndrome adversely affect lymphocyte groth, but do not affect imprinted gene expression in blood or brain. Hum Genet 2002110:545-552.
• Hagberg B, Aicardi , Dias K, Ramos O. A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Retts syndrome: Report of 35 cases. Ann Neurol 198314:471e9.
• Leonard H, Silberstein , Falk R, Houink-Manville I, Ellaay C, Raffaele LS, et al. Occurrence of Rett syndrome in boys. Child Neurol 200116:333-338.
• Dunn HG. Importance of Rett syndrome in child neurology, revie article. Brain Dev 200123:38-43.
• Hagberg B, Hanefeld F, Percy A, Skjeldal O. An update on clinically applicable diagnostic criteria in Rett syndrome. In: Comments to Rett Syndrome clinical criteria consensus panel satellite to European Paediatric Neurology Society Meeting, 11 September 2001. Eur Paediatr Neurol 20026:293-297.
• Skuse DH, Kuntsi . Moleculer genetic and choromosomal anomalies: cognitive and behavioural conseuences. Child and Adolescent Psychiatry, M Rutter, E Taylor (Ed.), Oxford: Blackell Publishing 2002. p.205-240.
• Huppke P, Laccone F, Kramer N, Engel , Hanefeld F. Rett syndrome:analysis of MECP2 and clinical characterization of 31 patients. Hum Mol Genet 20009(9):1369–1375.
• Steffenburg U, Hagberg G, Hagberg B. Epilepsy in a representative series of Rett syndrome. Acta Paediatr 200190:34e9.
• Huppke P, Kohler K, Brockmann K, Stettner GM, Gartner . Treatment of epilepsy in Rett syndrome. Eur Paediatr Neurol 200711:10e6.
• Nieto-Barrera M, Nieto-imenez M, Diaz F, Campaa C, Snchez ML, Ruiz del Portal L, et al. Clinical course of epileptic seizures in Retts syndrome. Rev Neurol 199928:449e53.
• Leonard H, Dons , ian L, et al. Valproate and risk of fracture in Rett syndrome. Arch Dis Child 201095:444e8.
• Tsai, L. Y. Is Rett syndrome a subtype of pervasive developmental disorders ournal of Autism and Developmental Disorders 199222:551–561.