Görüntüleme
19
İndirme
4
Amaç: Kortikal gelişimsel malformasyonlar (KGM) nöronal hücrelerin gelişimi, göçü ve yerleşim evrelerinde görülen bozukluklar nedeniyle ortaya çıkan ve nadir görülen santral sinir istemi anomalileridir. Etyoloji, eşlik edebilen diğer nörolojik ve sistemik durumlar nedeniyle oldukça heterojen fenotip çeşitliliğe sahip olan KGM, en sık olarak nöbet, motor ve bilişsel gerilik bulgularından bir veya birkaçının bir arada bulunduğu tablo ile ortaya çıkar. Gereç ve Yöntemler: Son beş yıl içinde KGM tanısı alan 36 hastanın klinik, laboratuvar, elektrofizyolojik ve görüntüleme bulguları sunulmuştur. Genetik testlerle kesin mutasyon gösterilebilen hastaların fenotipi, epilepsisi olan hastalarda ilaç yanıtları gözden geçirilmiştir. Bulgular: Hastaların en sık başvuru nedeninin motor ve bilişsel gerilik olduğu ve %72 hastada nöbetlerin eşlik ettiği saptandı. Hastaların üçte birinde tüm beyin loblarını tutan yaygın KGM, üçte ikisinde bir ya da birden çok lobu içeren malformasyon olduğu görüldü. Genetik mutasyonu gösterilen sekiz hastanın yarısında saptanmış olan konjenital müsküler distrofi en sık saptanan genetik tanılı durumdu. Hastaların tümünde KGM görüntüleme yöntemleriyle saptandı. Sonuç: Oldukça geniş bir etyolojiye sahip olan nöbetler, motor ve bilişsel geriliğin bir arada olduğu klinik ile başvuran hastalarda görüntüleme yöntemleriyle saptanmış olan KGM’nin tipi, yaygınlığı, eşlik eden diğer santral sinir sistemi anormallikleri ve muayene bulguları tanı aşamasında yol göstericidir. Tüm bulgular bir arada değerlendirilerek bir sonraki aşamada yapılacak testler belirlenmelidir. Genetik bilimindeki gelişmeler, yeni teknikler ve yaygınlaşan test imkânları bu hastalıkların tanısı, tedavi seçenekleri ve prognozlarının öngörülmesinde ve genetik danışma ve planlamalar açısından önemli katkılar sağlamaktadır.
Purpose: Cortical developmental malformations (KGMs) are anomalies of central nerve desire that occur due to disorders in the development of nerve cells, migration and settlement stages. The KGM, which has a very heterogeneous phenotype variety due to other neurological and systemic conditions that may accompany etiology, is most often revealed by the table in which one or more of the findings of stroke, motor and cognitive voltage are combined. Tools and Methods: Clinical, laboratory, electrophysiological and imaging findings of 36 patients diagnosed with KGM have been presented over the past five years. Patients with phenotype, epilepsy, with genetic tests, who can show precise mutations, have reviewed medication responses. The findings: The most frequent cause of the patient's application was motor and cognitive tension, and 72% of patients were accompanied by attacks. The common KGM, which holds all brain lobes in one-third of patients, was found to have malformations containing one or more lobes in two-thirds. Congenital muscular distrophy, which was detected in half of eight patients with a genetic mutation, was the most frequently detected genetic diagnosis. All patients were diagnosed with KGM imaging methods. Result: The type, prevalence of KGM, which is identified by the methods of imaging in the patient clinic where attacks, motor and cognitive tension are combined with a fairly broad ethology, accompanying other abnormalities of the central nervous system and the examination findings are indicative in the diagnosis stage. All the findings must be evaluated together and the tests to be conducted in the next stage. The developments in genetic science, new techniques and the increasing possibilities of testing make significant contributions to the diagnosis, treatment options and prognosis of these diseases and in terms of genetic consulting and planning.
Objective: Malformations of cortical development (MCD) are rare central nervous system abnormalities that are caused by disruption of normal cortical development stages, including neural cell proliferation, cell type differentiation, neuronal migration, and final neuronal positioning. It has different phenotypic presentations which largely depend on the underlying cause of the disorder and is associated with other neurologic and systemic disorders. MCD frequently present with seizures, various degrees of developmental delay, and intellectual disability. Material and Methods: The findings of clinical, laboratory, electrophysiological, and magnetic resonance imaging of thirty-six patients diagnosed with MCD in the last five years have been reported. Responses to drug therapies in epileptic patients and phenotypic expressions in patients with the genetically proved mutation were also reviewed. Results: Developmental delay, intellectual disability, and seizures (%72) were the main clinical findings. MCD has been recognized with magnetic resonance imaging in all patients. Diffuse cortical malformations have been detected in a third of our patients. Single and/or multiple brain lobe involvements have been determined in other patients. Congenital muscular dystrophy was the most diagnosed disease in the patients who had elucidated with genetic tests. Conclusion: Seizures, developmental delay, and intellectual disability could be caused by many disorders including MCD. The type and diffusiveness of the MCD, associated neurologic and systemic findings should be accurately evaluated. Recent developments in genetic methods have improved the accurate diagnosis, prognosis prediction, and treatment planning strategies in patients with MCD.
Alan : Sağlık Bilimleri
Dergi Türü : Uluslararası
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