A Case of Septo-Optic Dysplasia-Schizencephaly Complex. |
Hyo Sook Ahn, Bang Kyun Ahn, Hong Joo Han |
Department of Ophthalmology, College of Medicine Chonbuk National University, Chonju, Korea. |
열두와 동반된 중격시신경형성장애 |
안효숙(Hyo Sook Ahn),안방균(Bang Kyun Ahn),한홍주(Hong Joo Han) |
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Abstract |
Septo-optic dysplasia is diagnosed when optic nerve hypoplasia is combined with dysgenesis of the septum pellucidum and nearly two-thirds of them have hypothalamic-pituitary dysfunction. A number of these patients have schizencephaly and usually present seizures. The migrational disorders including schizencephaly, lissencephaly, heterotopia and polymicrogyria are a rare group of congenital malformations of the brain Septo-optic dysplasia-schizencephaly complex is frequently associated with endocrinolo gic, ophthalmologic, and neurologic symptoms and signs. We recently experienced a case of septo-optic dysplasia-schizencephaly, who showed severe visual impairment associated nystagmus and bilateral optic nerve hypoplasia agenesis of septum pellucidum with schizencephaly and hypsarrythmia. Because some forms of migrational disorders and septo-optic dysplasia can be inherited, parental counseling is essential for the accurate diagnosis. |
Key Words:
agenesis of septum pellucidum;optic nerve hypoplasia;schizencephaly |
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