Olgu Sunumu
PDF Zotero Mendeley EndNote BibTex Kaynak Göster

Şizensefali

Yıl 2022, Cilt 15, Sayı 1, 201 - 204, 01.01.2022
https://doi.org/10.31362/patd.904424

Öz

Öz: Şizensefali, pial membrandan lateral ventrikül ependimal yüzeyine uzanan yarıklarla karakterize bir nöronal migrasyon anomalisidir. Hastalar genellikle mental retardasyon, hemiparezi, gelişimsel defisitler ve epileptik nöbetlerle prezente olmaktadır. Şizensefalinin en yaygın sebepleri prenatal infeksiyonlar, maternal travma, hipoksemi ve EMX2 mutasyonlarıdır. Şizensefali tanısında tercih edilen yöntem manyetik rezonans görüntülemedir. Bu olgu sunumunda şizensefali saptanan 11 aylık erkek bebek sunulacaktır.

Kaynakça

  • Yakovlev PI, Wadsworth RC. Schizencephalies; a study of the congenital clefts in the cerebral mantle; clefts with hydrocephalus and lips separated. J Neuropathol Exp Neurol 1946;5:116-130. https://doi.org/10.1097/00005072-194604000-00003
  • Brant WE, Helms CA. Fundamentals of diagnostic radiology. 3rd ed. Philadelphia: Lippincott Williams & Wilkins, 2007;226‑227.
  • Battaglia G, Granata T. Schizencephaly. In: Barth PG, ed. Disorders of neuronal migration. 1st ed. London: Mac Keith Press, 2003;127-134.
  • Tietjen I, Erdogan F, Currier S, Apse K, Chang BS, Hill RS, et al. EMX2‑independent familial schizencephaly: clinical and genetic analyses. Am J Med Genet A 2005;135:166‑170. https://doi.org/10.1002/ajmg.a.30734
  • Barkovich AJ, Norman D. MR imaging of schizencephaly. AJR Am J Roentgenol 1988;150:1391‑1396. https://doi.org/10.1002/ajmg.a.30734
  • Denis D, Chateil JF, Brun M, Brissaud O, Lacombe D, Fontan D, et al. Schizencephaly: clinical and imaging features in 30 infantile cases. Brain Dev 2000;22:475‑483. https://doi.org/10.1016/s0387-7604(00)00173-x
  • Bradtkorb E, Nilsen G, Smevik O, Riocik PA. Epilepsy and anormalies of neuronal migration: MRI and clinical aspects. Acta Neurol Scand 1992;86:24-32. https://doi.org/10.1111/j.1600-0404.1992.tb08049.x
  • Osborn RE, Byrd SE, Naidich TP, Friedman H. MR imaging of neuronal migration disorders. AJNR Am J Neuroradiol 1988;9:1101-1106.
  • Miller GM, Stears JC, Guggenheim MA, Wilkening GN. Schizencephaly: a clinical and CT study. Neurology 1984;34:997-1001. https://doi.org/10.1212/wnl.34.8.997
  • Güngör S, Yalnızoğlu D, Topçu M. Kortikal gelişimsel malformasyonlar. Çocuk Sağlığı ve Hastalıkları Dergisi 2007;50:210-225.
  • Arıca V, Karakuş A, Şilfeler İ, Arıca SG, Altaş M, Tutanç M, et al. Closed lip schizencephaly: a case report. İzmir Dr. Behçet Uz Çocuk Hastalıkları Dergisi 2012;2:118-121.
  • Sarnat HB, Curatolo P. Malformations of the nervous system. 1st ed. Edinburgh: Elsevier Publishers, Science Health Division, 2007;235.
  • Brunelli S, Faiella A, Capra V, et al. Germline mutations in the homebox gene EMX2 in patients with severe schizencephaly. Nat Genet 1996;12:94-96. https://doi.org/10.1038/ng0196-94
  • Granata T, Farina L, Faiella A, et al. Familial schizencephaly associated with EMX2 mutation. Neurology 1997;48:1403-1406. https://doi.org/10.1212/wnl.48.5.1403
  • Alford CA, Stagno S, Pass RF, Britt WJ. Congenital and perinatal cytomegalovirus infections. Rev Infect Dis 1990;12:745-753. https://doi.org/10.1093/clinids/12.supplement_7.s745
  • Stagno S, Pass PF, Cloud G, et al. Primary cytomegalovirus infection in pregnancy: incidance, transmission to fetus and clinical outcome. JAMA 1986;256:1904-1908. https://doi.org/10.1001/jama.1986.03380140074025
  • Güzeş EA, Ünal E, Kaya Ü, Yorulmaz A, Aydın K. Neurological manifestations and findings associated with congenital cytomegalovirus infections: retrospective study of 9 cases. Türkiye Klinikleri. Pediatri 2006;15:187-190.
  • Kaleli B, Kaleli İ, Aktan E, Yurdakul B, Akşit F. Gebelerde rubella ve sitomegalovirus infeksiyonu. İnfeksiyon Dergisi 1997;11:325-327.
  • Deluca SC, Echols K, Law CR, Ramey SL. Intensive pediatric constraint induced therapy for children with cerebral palsy: randomized, controlled, crossover trial. J Child Neurol 2006;21:931-938. https://doi.org/10.1177/08830738060210110401

Schizencephaly

Yıl 2022, Cilt 15, Sayı 1, 201 - 204, 01.01.2022
https://doi.org/10.31362/patd.904424

Öz

Abstract: Schizencephaly, a neuronal migration abnormality, is characterized with clefts that extend from the pial membrane to the ependymal surface of the lateral ventricle. Patients usually present with mental retardation, hemiparesis, developmental deficits and epileptic seizures. The most common causes of schizencephaly are prenatal infections, maternal trauma, hypoxemia and EMX2 mutations. The method of choice in diagnosis of schizencephaly is magnetic resonance imaging. In this case report, an 11-month-old male infant with schizencephaly will be presented.

Kaynakça

  • Yakovlev PI, Wadsworth RC. Schizencephalies; a study of the congenital clefts in the cerebral mantle; clefts with hydrocephalus and lips separated. J Neuropathol Exp Neurol 1946;5:116-130. https://doi.org/10.1097/00005072-194604000-00003
  • Brant WE, Helms CA. Fundamentals of diagnostic radiology. 3rd ed. Philadelphia: Lippincott Williams & Wilkins, 2007;226‑227.
  • Battaglia G, Granata T. Schizencephaly. In: Barth PG, ed. Disorders of neuronal migration. 1st ed. London: Mac Keith Press, 2003;127-134.
  • Tietjen I, Erdogan F, Currier S, Apse K, Chang BS, Hill RS, et al. EMX2‑independent familial schizencephaly: clinical and genetic analyses. Am J Med Genet A 2005;135:166‑170. https://doi.org/10.1002/ajmg.a.30734
  • Barkovich AJ, Norman D. MR imaging of schizencephaly. AJR Am J Roentgenol 1988;150:1391‑1396. https://doi.org/10.1002/ajmg.a.30734
  • Denis D, Chateil JF, Brun M, Brissaud O, Lacombe D, Fontan D, et al. Schizencephaly: clinical and imaging features in 30 infantile cases. Brain Dev 2000;22:475‑483. https://doi.org/10.1016/s0387-7604(00)00173-x
  • Bradtkorb E, Nilsen G, Smevik O, Riocik PA. Epilepsy and anormalies of neuronal migration: MRI and clinical aspects. Acta Neurol Scand 1992;86:24-32. https://doi.org/10.1111/j.1600-0404.1992.tb08049.x
  • Osborn RE, Byrd SE, Naidich TP, Friedman H. MR imaging of neuronal migration disorders. AJNR Am J Neuroradiol 1988;9:1101-1106.
  • Miller GM, Stears JC, Guggenheim MA, Wilkening GN. Schizencephaly: a clinical and CT study. Neurology 1984;34:997-1001. https://doi.org/10.1212/wnl.34.8.997
  • Güngör S, Yalnızoğlu D, Topçu M. Kortikal gelişimsel malformasyonlar. Çocuk Sağlığı ve Hastalıkları Dergisi 2007;50:210-225.
  • Arıca V, Karakuş A, Şilfeler İ, Arıca SG, Altaş M, Tutanç M, et al. Closed lip schizencephaly: a case report. İzmir Dr. Behçet Uz Çocuk Hastalıkları Dergisi 2012;2:118-121.
  • Sarnat HB, Curatolo P. Malformations of the nervous system. 1st ed. Edinburgh: Elsevier Publishers, Science Health Division, 2007;235.
  • Brunelli S, Faiella A, Capra V, et al. Germline mutations in the homebox gene EMX2 in patients with severe schizencephaly. Nat Genet 1996;12:94-96. https://doi.org/10.1038/ng0196-94
  • Granata T, Farina L, Faiella A, et al. Familial schizencephaly associated with EMX2 mutation. Neurology 1997;48:1403-1406. https://doi.org/10.1212/wnl.48.5.1403
  • Alford CA, Stagno S, Pass RF, Britt WJ. Congenital and perinatal cytomegalovirus infections. Rev Infect Dis 1990;12:745-753. https://doi.org/10.1093/clinids/12.supplement_7.s745
  • Stagno S, Pass PF, Cloud G, et al. Primary cytomegalovirus infection in pregnancy: incidance, transmission to fetus and clinical outcome. JAMA 1986;256:1904-1908. https://doi.org/10.1001/jama.1986.03380140074025
  • Güzeş EA, Ünal E, Kaya Ü, Yorulmaz A, Aydın K. Neurological manifestations and findings associated with congenital cytomegalovirus infections: retrospective study of 9 cases. Türkiye Klinikleri. Pediatri 2006;15:187-190.
  • Kaleli B, Kaleli İ, Aktan E, Yurdakul B, Akşit F. Gebelerde rubella ve sitomegalovirus infeksiyonu. İnfeksiyon Dergisi 1997;11:325-327.
  • Deluca SC, Echols K, Law CR, Ramey SL. Intensive pediatric constraint induced therapy for children with cerebral palsy: randomized, controlled, crossover trial. J Child Neurol 2006;21:931-938. https://doi.org/10.1177/08830738060210110401

Ayrıntılar

Birincil Dil Türkçe
Konular Rehabilitasyon
Yayınlanma Tarihi Ocak 2022
Bölüm Olgu Sunumu
Yazarlar

Büşra ŞİRİN (Sorumlu Yazar)
SAĞLIK BİLİMLERİ ÜNİVERSİTESİ, İSTANBUL FİZİK TEDAVİ VE REHABİLİTASYON SAĞLIK UYGULAMA VE ARAŞTIRMA MERKEZİ
0000-0001-8519-1747
Türkiye


Nur KESİKTAŞ
SAĞLIK BİLİMLERİ ÜNİVERSİTESİ, İSTANBUL FİZİK TEDAVİ VE REHABİLİTASYON SAĞLIK UYGULAMA VE ARAŞTIRMA MERKEZİ
0000-0002-3937-9973
Türkiye


Sedef ERSOY
SAĞLIK BİLİMLERİ ÜNİVERSİTESİ, İSTANBUL FİZİK TEDAVİ VE REHABİLİTASYON SAĞLIK UYGULAMA VE ARAŞTIRMA MERKEZİ
0000-0001-9018-7937
Türkiye

Yayımlanma Tarihi 1 Ocak 2022
Kabul Tarihi 22 Haziran 2021
Yayınlandığı Sayı Yıl 2022, Cilt 15, Sayı 1

Kaynak Göster

Bibtex @olgu sunumu { patd904424, journal = {Pamukkale Tıp Dergisi}, issn = {}, eissn = {1308-0865}, address = {Pamukkale Üniversitesi Tıp Fakültesi Eğitim Blokları Kınıklı kampüsü 20070 Kınıklı, Denizli}, publisher = {Pamukkale Üniversitesi}, year = {2022}, volume = {15}, pages = {201 - 204}, doi = {10.31362/patd.904424}, title = {Şizensefali}, key = {cite}, author = {Şirin, Büşra and Kesiktaş, Nur and Ersoy, Sedef} }
APA Şirin, B. , Kesiktaş, N. & Ersoy, S. (2022). Şizensefali . Pamukkale Tıp Dergisi , 15 (1) , 201-204 . DOI: 10.31362/patd.904424
MLA Şirin, B. , Kesiktaş, N. , Ersoy, S. "Şizensefali" . Pamukkale Tıp Dergisi 15 (2022 ): 201-204 <https://dergipark.org.tr/tr/pub/patd/issue/65499/904424>
Chicago Şirin, B. , Kesiktaş, N. , Ersoy, S. "Şizensefali". Pamukkale Tıp Dergisi 15 (2022 ): 201-204
RIS TY - JOUR T1 - Şizensefali AU - Büşra Şirin , Nur Kesiktaş , Sedef Ersoy Y1 - 2022 PY - 2022 N1 - doi: 10.31362/patd.904424 DO - 10.31362/patd.904424 T2 - Pamukkale Tıp Dergisi JF - Journal JO - JOR SP - 201 EP - 204 VL - 15 IS - 1 SN - -1308-0865 M3 - doi: 10.31362/patd.904424 UR - https://doi.org/10.31362/patd.904424 Y2 - 2021 ER -
EndNote %0 Pamukkale Tıp Dergisi Şizensefali %A Büşra Şirin , Nur Kesiktaş , Sedef Ersoy %T Şizensefali %D 2022 %J Pamukkale Tıp Dergisi %P -1308-0865 %V 15 %N 1 %R doi: 10.31362/patd.904424 %U 10.31362/patd.904424
ISNAD Şirin, Büşra , Kesiktaş, Nur , Ersoy, Sedef . "Şizensefali". Pamukkale Tıp Dergisi 15 / 1 (Ocak 2022): 201-204 . https://doi.org/10.31362/patd.904424
AMA Şirin B. , Kesiktaş N. , Ersoy S. Şizensefali. Pam Tıp Derg. 2022; 15(1): 201-204.
Vancouver Şirin B. , Kesiktaş N. , Ersoy S. Şizensefali. Pamukkale Tıp Dergisi. 2022; 15(1): 201-204.
IEEE B. Şirin , N. Kesiktaş ve S. Ersoy , "Şizensefali", Pamukkale Tıp Dergisi, c. 15, sayı. 1, ss. 201-204, Oca. 2022, doi:10.31362/patd.904424

14721

14718

21713

14715

14716