Beyin ve Spinal Kordun Konjenital Anomalilerinde Görüntüleme Bulguları

Jiang, X., & Nardelli, J. Cellular and molecular introduction to brain development. Neurobiology of disease, 2016; 92(Pt A), 3–17.

American Journal of Medical Genetics Part C (Seminars in Medical Genetics) 2016; 166C:117–123.

Severino, M., Geraldo, A. F., Utz, N., Tortora, D., Pogledic, I., Klonowski, W., Triulzi et al. Definitions and classification of malformations of cortical development: practical guidelines. Brain : a journal of neurology. 2020;143(10), 2874–2894.

Barkovich, A. J., Guerrini, R., Kuzniecky, R. I., Jackson, G. D., & Dobyns, W. B. A developmental and genetic classification for malformations of cortical development: update 2012. Brain : a journal of neurology. 2012; 135(Pt 5), 1348–1369.

Raybaud, C., & Widjaja, E. Development and dysgenesis of the cerebral cortex: malformations of cortical development. Neuroimaging clinics of North America. 2011; 21(3), 483–vii.

Woods, C. G., Bond, J., & Enard, W. Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings. American journal of human genetics. 2005; 76(5), 717–728.

Adachi, Y., Poduri, A., Kawaguch, A., Yoon, G., Salih, M. A., Yamashita, F., Walsh, C. A.,et al. Congenital microcephaly with a simplified gyral pattern: associated findings and their significance. AJNR. American journal of neuroradiology. 2011; 32(6), 1123–1129.

Barkovich, A. J., & Kuzniecky, R. I. Gray matter heterotopia. Neurology. 2000;55(11), 1603–1608.

Hadzine, Y., Elmekkaoui, A., Benlenda, O., Wakrim, S., & Nassik, H. Periventricular nodular heterotopy of the gray matter: A case report. Radiology case reports. 2022; 17(9), 3291–3293.

These rare forms of SUBH are however not considered as neuronal migration disorders, as they are thought to result from abnormal proliferation of neurons and glia or from abnormal post-migrational development

Afzal, F., Tabassum, S., Naeem, A., Naeem, F., & Ahmad, R. U. (2022). Double cortex syndrome (subcortical band heterotopia): A case report. Radiology case reports.2022; 18(2), 671–674.

Chaudhari, B. P., & Ho, M. L. (2022). Congenital Brain Malformations: An Integrated Diagnostic Approach. Seminars in pediatric neurology, 42, 100973.

Keith, J., & Shannon, P. (2023). Brain pathology of lissencephaly type 2 with an ISPD pathogenic variant. Neuropathology and applied neurobiology, 49(5), e12939.

Poretti, A., Boltshauser, E., & Huisman, T. A. (2014). Congenital brain abnormalities: an update on malformations of cortical development and infratentorial malformations. Seminars in neurology, 34(3), 239–248.

El Mandour, J., Amsiguine, N., Isumbo, P., El Fenni, J., & Edderai, M. (2023). Congenital bilateral perislyvian syndrome: A rare case report. Radiology case reports, 18(6), 2066–2068.

Fila, M., Przyslo, L., Derwich, M., Pawlowska, E., & Blasiak, J. (2024). Potential of focal cortical dysplasia in migraine pathogenesis. Cerebral cortex (New York, N.Y. : 1991), 34(4), bhae158. https://doi.org/10.1093/cercor/bhae158

Alkareem, M., Ahmed, H., & Ahmed, G. (2020). Unilateral right closed-lip schizencephaly. BMJ case reports, 13(9), e235004. https://doi.org/10.1136/bcr-2020-235004

handbook of clınıcal neuruology

Dubourg C, Bendavid C, Pasquier L, Henry C, Odent S, David V. Holoprosencephaly. Orphanet J Rare Dis. 2007 Feb 2;2:8. doi: 10.1186/1750-1172-2-8. PMID: 17274816; PMCID: PMC1802747.

Simon, E. M., Hevner, R. F., Pinter, J. D., Clegg, N. J., Delgado, M., Kinsman, S. L., Hahn, J. S., & Barkovich, A. J. (2002). The middle interhemispheric variant of holoprosencephaly. AJNR. American journal of neuroradiology, 23(1), 151–156.

Lazaro, L., Dubourg, C., Pasquier, L., Le Duff, F., Blayau, M., Durou, M. R., de la Pintière, A. T., Aguilella, C., David, V., & Odent, S. (2004). Phenotypic and molecular variability of the holoprosencephalic spectrum. American journal of medical genetics. Part A, 129A(1), 21–24. https://doi.org/10.1002/ajmg.a.30110

Hahn, J. S., & Plawner, L. L. (2004). Evaluation and management of children with holoprosencephaly. Pediatric neurology, 31(2), 79–88. https://doi.org/10.1016/j.pediatrneurol.2004.03.006

Azahraa Haddad, F., Qaisi, I., Joudeh, N., Dajani, H., Jumah, F., Elmashala, A., Adeeb, N., Chern, J. J., & Tubbs, R. S. (2018). The newer classifications of the chiari malformations with clarifications: An anatomical review. Clinical anatomy (New York, N.Y.), 31(3), 314–322. https://doi.org/10.1002/ca.23051

Rüsch, C. T., Bölsterli, B. K., Kottke, R., Steinfeld, R., & Boltshauser, E. (2020). Pontocerebellar Hypoplasia: a Pattern Recognition Approach. Cerebellum (London, England), 19(4), 569–582. https://doi.org/10.1007/s12311-020-01135-5

Cavusoglu, D., Ozturk, G., Turkdogan, D., Kurul, S. H., Yis, U., Komur, M., Incecik, F., Kara, B., Sahin, T., Unver, O., Dilber, C., Mert, G. G., Gunay, C., Uzan, G. S., Ersoy, O., Oktay, Y., Mermer, S., Tuncer, G. O., Gungor, O., Ozcora, G. D. K., … Sonmez, F. M. (2024). Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study. Cerebellum (London, England), 10.1007/s12311-024-01690-1.

Huisman, T. A., Rossi, A., & Tortori-Donati, P. (2012). MR imaging of neonatal spinal dysraphia: what to consider?. Magnetic resonance imaging clinics of North America, 20(1), 45–61. https://doi.org/10.1016/j.mric.2011.08.010

Botto, L. D., Moore, C. A., Khoury, M. J., & Erickson, J. D. (1999). Neural-tube defects. The New England journal of medicine, 341(20), 1509–1519. https://doi.org/10.1056/NEJM199911113412006

Zoghi, S., Mosayebi, M. A., Feili, M., Eskandari, H., Jalalinezhad, H., Masoudi, M. S., & Taheri, R. (2024). 2- to 20-year myelomeningocele follow-up outcomes from a referral center in Southern Iran: the Shiraz experience. European journal of medical research, 29(1), 200. https://doi.org/10.1186/s40001-024-01667-0

Sarris, C. E., Tomei, K. L., Carmel, P. W., & Gandhi, C. D. (2012). Lipomyelomeningocele: pathology, treatment, and outcomes. Neurosurgical focus, 33(4), E3. https://doi.org/10.3171/2012.7.FOCUS12224

Swaiman

Unsinn KM, Geley T, Freund MC et-al. US of the spinal cord in newborns: spectrum of normal findings, variants, congenital anomalies, and acquired diseases. Radiographics. 20 (4): 923-38.

Zhang, J. F., Strelko, O., Komarov, O., Kuts-Karpenko, V., Forbes, J. A., Fedorko, O., & Tomycz, L. D. (2024). Cervical Diastematomyelia: A Case Presentation and Systematic Review. Journal of neurological surgery reports, 85(2), e74–e82. https://doi.org/10.1055/a-2319-3444