Veysel KAPLANOĞLU, Hatice KAPLANOĞLU, Havva AKMAZ ÜNLÜ

Aicardi Sendromlu Kardeşler: Olgu Sunumu

Aicardi sendromu infantil spazm, korpus kallozum agenezisi, koryoretinallakün başta olmak üzere oküler anormalliklerve motor mentalretardasyonla karakterize ciddi doğumsal bir sendromdur. Hastalığın tanısı klinik bulgular ile konulmaktadır. Elektroensefalografi, manyetik rezonans görüntüleme bulguları ve oftalmolojik muayene tanıda yardımcıdır. Aicardi sendromlu hastalarda genellikle ilk sorun nöbet ve motor-mental retardasyon olarak karşımıza çıkmaktadır. Bu çalışmada akraba evliliği sonucunda dünyaya gelen, motor-mental retardasyon, göz bulgularının, korpus kallozum hipoplazisi, interventriküler kistin izlendiği Aicardi sendromu tanısı alan iki kardeş olgu sunulmuştur.

Brothers with Aicardi Syndrome: Case Report

Aicardi's syndrome is a severe congenital syndrome characterized by infantile spasm, corpus callosum agenesis, ocular abnormalities, especially chorioretinal lacuna, and motor mental retardation. The diagnosis of the disease is made by clinical findings. Electroencephalography, magnetic resonance imaging findings and ophthalmologic examination are helpful in the diagnosis. The first problem in patients with Aicardi syndrome is seizure and motormental retardation. In this study, two siblings who were born as a result of consanguineous marriages and who were diagnosed Aicardi syndrome with mental-motor retardation, ocular abnormalities, corpus callosum hypoplasia and interventricular cyst were presented.

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