Schizencephaly

Yıl 2022, Cilt: 15 Sayı: 1, 201 - 204, 01.01.2022

Büşra Şirin , Nur Kesiktaş , Sedef Ersoy

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.

Anahtar Kelimeler

Schizencephaly, rehabilitation, cortical dysplasia

Şizensefali

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.

Anahtar Kelimeler

Şizensefali, rehabilitasyon, kortikal displazi

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