Konjenital perisitviyan sendrom; üç olgu sunumu

Year 2009, Volume: 15 Issue: 3, 23 - 25, 01.04.2009

Uluç Yiş Murat Baştemir

Abstract

Konjenital bilateral perisilviyan' sendrom'; psödobulber parezi, kognitif bozukluklar, epilepsi ve beyin manyetik rezonans incelemesinde bilateral perisilviyan kortikal displazi ile karakterize nadir görülen bir nörolojik hastalıktır. Bu yazıda psikomotor retardasyon, konuşma geriliği ve beslenme güçlüğü ile başvuran ve konjenital bilateral perisilviyan sendrom tanısı alan üç vaka nadir görülmesi nedeni ile sunulmaktadır.

Keywords

Kardeşler, Çocuk, Çocuk, okul öncesi, Lisan gelişim bozuklukları, Süt çocuğu, Perisylvian sendromu, Zihinsel engellilik

Congenital perislyvian syndrome; report of three cases

Abstract

Congenital perisylvian syndrome is a rare neurological disorder characterized by pseudobulbar palsy, cognitive deficits, epilepsy associated with bilateral perisylvian cortical dysplasia on magnetic resonance imaging. We herein report three cases with congenital bilateral perisylvian syndrome who presented with psychomotor retardation, speech delay and feeding difficulty because of the rarity of the syndrome.

Keywords

Siblings, Child, Child, Preschool, Language Development Disorders, Infant, Perisylvian syndrome, Intellectual Disability

References

• l.Gropman AL, Barkovich AJ, Vezina LG, Conry JA, Dubovsky EC, Packer PJ. Pediatric congenital bilateral perisylvian syndrome: clinical and MRI features in 12 patients. Neuropediatrics. 1997;28:198-203
• 2.Kuzniecky R, Andermann F, Guerrini R. Congenital bilateral perisylvian syndrome: study of 31 patients. The CBPS Multicenter Collaborative Study. Lancet. 1993;341:608-612
• 3.Guerreiro MM, Andermann E, Guerrini R, Dobyns WB, Kuzniecky R, Silver K, et al. Familial perisylvian polymicrogyria: A new familial syndrome of cortical maldevelopment. Ann Neurol. 2000;48:39-48
• 4.Villard L, Nguyen K, Cardoso C, Martin CL, Weiss AM, Sifry-Platt M, et al. A locus for Bilateral Perisylvian Polymicrogyria maps to Xq28. Am J Hum Genet. 2002;70:1003-1008
• 5.Yoshimura K, Hamada F, Tomoda T, Wakiguchi H, Kurashige T. Focal pachypolymicrogyria in three siblings. Pediatr Neurol. 1998;18:435-438
• 6.Barkovich AJ, Lindan CE. Congenital cytomegalovirus infection of the brain: imaging analysis and embryologic considerations. Am J Neuroradiol. 1994;15:703-715
• 7.Piao X, Basel-Vanagaite L, Straussberg R, Grant PE, Pugh EW, Doheny K, et al. An autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16pl2.2-21. Am J Hum Genet. 2002;70:1028-1033
• 8.Roll P, Rudolf G, Pereira S, Royer B, Scheffer IE, Massacrier A, et al. SRPX2 mutations in disorders of language cortex and cognition. Hum Mol Genet. 2006;15:1195-1207
• 9.Santos NF, Secolin R, Brandao-Almeida IL, Silva SM, Torres FR, Tsuneda SS. A new candiadate locus for bilateral perisylvian polymicrogyria mapped on chromosome Xq27. Am J Med Genet. 2008; 146:1151-1157
• lO.Baykan-Kurt B, Sarp A, Gökyigit A, Tuncay R, Çalışkan A. A clinically recognizable neuronal migration disorder: congenital bilateral perisylvian syndrome. Case report with long-term clinical and EEG follow-up. Seizure. 1997;6:487-93