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Septo-optic dysplasia plus diagnosed in a middle-aged woman

机译:视神经发育不良加上一名中年妇女的诊断

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Septo-optic dysplasia is a congenital anomaly with diverse phenotypes from normal to mixtures of visual abnormality, endocrine dysfunction, psychomotor retardations and epileptic seizures. It is characterized by optic atrophy, pituitary dysfunction and midline structure abnormalities in corpus callosum or septum pellucidum. Diagnosis of septo-optic dysplasia plus is made when cortical malformations accompanied. Here we report a middle-aged woman with septo-optic dysplasia plus having unilateral optic atrophy, agenesis of septum pellucidum and cortical malformations.
机译:视神经发育不良是一种先天性异常,具有多种表型,从正常到视觉异常,内分泌功能障碍,精神运动发育迟缓和癫痫发作的混合物。其特征在于call体或透明隔中的视神经萎缩,垂体功能障碍和中线结构异常。当伴有皮质畸形时,可诊断为视神经发育不良。在这里,我们报道了一名中视妇女,患有视神经发育不全,单侧视神经萎缩,透明性隔不全和皮质畸形。

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