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Konjenital perisitviyan sendrom; üç olgu sunumu

Yıl 2009, Cilt: 15 Sayı: 3, 23 - 25, 01.04.2009

Öz

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.

Kaynakça

  • 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

Congenital perislyvian syndrome; report of three cases

Yıl 2009, Cilt: 15 Sayı: 3, 23 - 25, 01.04.2009

Öz

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.

Kaynakça

  • 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
Toplam 10 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Bölüm Makaleler
Yazarlar

Uluç Yiş Bu kişi benim

Murat Baştemir Bu kişi benim

Yayımlanma Tarihi 1 Nisan 2009
Yayımlandığı Sayı Yıl 2009 Cilt: 15 Sayı: 3

Kaynak Göster

APA Yiş, U., & Baştemir, M. (2009). Konjenital perisitviyan sendrom; üç olgu sunumu. Gaziantep Medical Journal, 15(3), 23-25.
AMA Yiş U, Baştemir M. Konjenital perisitviyan sendrom; üç olgu sunumu. Gaziantep Medical Journal. Nisan 2009;15(3):23-25.
Chicago Yiş, Uluç, ve Murat Baştemir. “Konjenital Perisitviyan Sendrom; üç Olgu Sunumu”. Gaziantep Medical Journal 15, sy. 3 (Nisan 2009): 23-25.
EndNote Yiş U, Baştemir M (01 Nisan 2009) Konjenital perisitviyan sendrom; üç olgu sunumu. Gaziantep Medical Journal 15 3 23–25.
IEEE U. Yiş ve M. Baştemir, “Konjenital perisitviyan sendrom; üç olgu sunumu”, Gaziantep Medical Journal, c. 15, sy. 3, ss. 23–25, 2009.
ISNAD Yiş, Uluç - Baştemir, Murat. “Konjenital Perisitviyan Sendrom; üç Olgu Sunumu”. Gaziantep Medical Journal 15/3 (Nisan 2009), 23-25.
JAMA Yiş U, Baştemir M. Konjenital perisitviyan sendrom; üç olgu sunumu. Gaziantep Medical Journal. 2009;15:23–25.
MLA Yiş, Uluç ve Murat Baştemir. “Konjenital Perisitviyan Sendrom; üç Olgu Sunumu”. Gaziantep Medical Journal, c. 15, sy. 3, 2009, ss. 23-25.
Vancouver Yiş U, Baştemir M. Konjenital perisitviyan sendrom; üç olgu sunumu. Gaziantep Medical Journal. 2009;15(3):23-5.