Nöral Tüp Defektleri
Özet
Nöral tüp defektleri, merkezi sinir sistemini etkileyen ciddi doğumsal anomalilerdir ve spina bifida gibi farklı klinik formlarla ortaya çıkarlar. Genetik yatkınlık ile çevresel faktörlerin etkileşimi sonucu gelişimsel bozukluk olarak meydana gelirler. Maternal folik asit takviyesi, gebelik öncesi ve erken dönemde bu defektlerin önlenmesinde hayati bir öneme sahiptir. Tanı ve tedavi süreçleri, multidisipliner tıbbi yaklaşımlar gerektirir.
Neural tube defects are significant congenital anomalies affecting the central nervous system, presenting in various clinical forms such as spina bifida. They arise as developmental disorders driven by an interaction between genetic predisposition and environmental factors. Maternal folic acid supplementation during the periconceptional period plays a vital role in the prevention of these conditions. Management and diagnostic processes require a comprehensive, multidisciplinary medical approach.
Referanslar
Nalin Gupta, M. Elizabeth Ross. Kenneth F. Swaiman. Disorders of Neural Tube Development Swaiman’s Pediatric Neurology. 5. Edition, 2017. P.125-145.
Sadler TW. Langmans Medikal Embriyoloji. Palme Yayıncılık. Çev. Ed. C. Başaklar. 6.Baskı, Ankara. 1993. S: 386.
Şeftalioğlu A. 1998. Genel & Özel İnsan Embriyolojisi. 3. Baskı, Ankara. 1998. S:620.
Northrup H, Volcik KA. Spina bifida and other neural tube defects. Curr Probl Pediatr, 2000. P. 313-332.
Fuchs HE. Congenital abnormalities. Sabiston DC (ed). Textbook of Surgery, 15. th edition, W.B. Saunders Company, Philedelphia. 1997. P.1374-1381.
Yener AKYUVA. İntrauterin Hayatta Oluşan Nöral Gelişim Hasarı: Spina bifida. Kafkas Üniversitesi Fen Bil Enst Derg 2016; 9(2): 61 – 66.
Snell RS. Clinical Neuroanatomy 7th Edition, Wolters Kluwer 2010. p.50-150.
Copp AJ, Greene ND. Genetics and development of neural tube defects. The Journal of Pathology: A Journal of the Pathological Society of Great Britain and Ireland. 2010; 220(2): 217-30. 19.
Mancall EL, Brock DG. Gray's Clinical Neuroanatomy E-Book: Elsevier Health Sciences; 2011.
Harwood-Nash DC, McHugh K. Diastematomyelia in 172 children: The impact of modern neuroradiology. Pediatr Neurosurg, 1991(16): 247–51.
Berihu BA, Welderufael AL, Berhe Y et al. High burden of neural tube defects in Tigray, Northern Ethiopia: Hospitalbased study. PLoS One. 2018;13(11):206-212.
Githuku JN, Azofeifa A, Valencia D, et al. Assessing the prevalence of spina bifida and encephalocele in a Kenyan hospital from 2005–2010: implications for a neural tube defects surveillance system. Pan Afr Med J. 2014;18:60.
Tuncbilek E, Boduroglu K, Alikasifoglu M. Neural tube defects in Turkey: Prevalence, distribution and risk factors. The Turkish Journal of Pediatrics. 1999; 41(3): 299-305.
Akar N, Cavdar AO, Arcasoy A. High incidence of neural tube defects in Bursa, Turkey. Pediatric and Perinatal Epidemiology. 1988; 2(1): 89-92.
Chapman PH, Swearingen B, Caviness VS. Subtorcular occipital encephaloceles: Anatomical considerations relevant to operative management. Journal of Neurosurgery. 1989; 71(3): 375-81.
Gülşah Çetin, Mehmet Helvacı, Melek Akar. Nöral Tüp Defekti Tanısı İle İzlenen Yenidoğan Bebeklerin Nörogelişimsel Sonuçlarının Değerlendirilmesi.2020
Frey L, Hauser WA. Epidemiology of neural tube defects. Epilepsia. 2003; 44: 4-13.
Berg K, Oppen A, Holthe W, Schielen P. Neural tube defects associated with prenatal exposure to antiepileptic drugs. Reproductive Toxicology. 2007; 57-80.
Rothman KJ, Moore LL, Singer MR, Nguyen U-SD, Mannino S, Milunsky A. Teratogenicity of high vitamin A intake. New England Journal of Medicine. 1995; 333(21): 1369-73
Donnelly JG. Folic acid. Critical reviews in clinical laboratory sciences. 2001; 38(3): 183-223.
Scatliff JH, Kendall BE, Kingsley D, Britton J, Grant DN, Hayward RD. Closed spinal dysraphism: Analysis of clinical, radiological, and surgical findings in 104 consecutive patients. American Journal of Roentgenology. 1989; 152(5): 1049-57.
Gökalp H, Erongun U. Nöroşirürji Ders Kitabı. 1988. P. 295-313.
Balagura S. Late neurological dysfunction in adult lumbosacral lipoma with tethered cord. Neurosurgery. 1984; 15(5): 724-6.
Topkoru BC, Işık N. Chiari Malformation Type 2 and Type 3. Türk Nöroşirurji Dergisi. 2015; 25: 281-5.
McLone DG, Knepper PA. The cause of Chiari II malformation: a unified theory. Pediatric Neurosurgery. 1989; 15(1): 1-12. 61.
Micu R, Chicea AL, Bratu DG, Nita P, Nemeti G, Chicea R. Ultrasound and magnetic resonance imaging in the prenatal diagnosis of open spina bifida. Medical Ultrasonography. 2018; 20(2): 221-7.
Oakeshott P, Hunt GM, Poulton A, Reid F. Open spina bifida: birth findings predict long-term outcome. Archives of Disease in Childhood. 2012; 97(5): 474-6.
Fletcher JM, Copeland K, Frederick JA, Blaser SE, Kramer LA, Northrup H, et al. Spinal lesion level in spina bifida: a source of neural and cognitive heterogeneity. Journal of Neurosurgery: Pediatrics. 2005; 102(3): 268-79.
Kadanalı S, Erten O. Türkiye’de nöral tüp defekti ve bununla ilişkili anomali insidansı. Kadın Doğum Dergisi. 1993; 8: 225-229.
Bowman RM, McLone DG. Neurosurgical management of spina bifida: research issues. Developmental Disabilities Research Reviews. 2010; 16(1): 82-87.
Singh SK, Singh RD, Sharma A. Caudal regression syndrome:case report and review of literature. Pediatric Surgery International. 2005; 21(7): 578-81.
Versiani BR, Gilbert-Barness E, Giuliani LR, Peres LC, Pina-Neto JM. Caudal dysplasia sequence: severe phenotype presenting in offspring of patients with gestational and pregestational diabetes. Clinical Dysmorphology. 2004; 13(1): 1-5.
Winstanley D, Graham B, Blair M, Linfesty R, Tomita S, Matthews J. Sacral hemangioma with sinus tract in an infant. Pediatric Dermatology. 2003; 20(3): 221-224.
Bhatia S, Tullu MS, Date NB, Muzumdar D, Muranjan MN, Lahiri KR. Anterior sacral pyocele with meningitis: a rare presentation of occult spinal dysraphism with congenital dermal sinus. Journal of Child Neurology. 2010; 25(11): 1393-1397.
Bannister R. Disorders of the spinal cord. In: Brain and Bannister’s Clinical Neurology, 7th edition, 1992; 404-408.
Bowen J, Malgna G. Spondylosis associated with Arnold-Chiari malformation and syringomyelia, 1997; 2458-2463.
Timor-Tritsch HE, Greenebaum E, Monteagudo A, Baxi L. Exencephaly-anencephaly sequence: Proof by Ultrasound Imaging and Amniotic Fluid Cytology. Journal of Maternal-Fetal Medicine. 1996; 5(4): 182-185.
Beksaç M, Demir N, Koç A, Yüksel A. Maternal Fetal Tıp & Perinatoloji Ders Kitabı, 2001; 292-295.
Logan CV, Abdel-Hamed Z, Johnson CA. Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects. Molecular Neurobiology. 2011; 43(1): 12-26.
46 Van Allen MI, Kalousek DK, Chernoff GF, et al. Evidence for multisite closure of the neural tube in humans. American Journal of Medical Genetics. 1993; 47(5): 723-43.
Geisel J. Folic acid and neural tube defects in pregnancy: A review. The Journal of Perinatal & Neonatal Nursing. 2003; 17(4): 268-79.
Yıldız D, Akbayrak N. Nöral Tüp Defektleti ve Önlemede Hemşirelik Yaklaşımları. Journal of Anatolia Nursing and Health Sciences. 2008; 11(2).
Soner Duru ET. Miyelomeningosel. Türk Nöroşirürji Dergisi. 2013; 23(2): 226-232.
