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摘要:
目的 探讨视隔发育不良患者的临床特征。 方法 2009年4月至2012年12月北京协和医院眼科通过眼科检查、头颅磁共振及实验室检测, 确诊4例视隔发育不良患者, 并对患者进行随诊。 结果 4例患者均有双侧视神经发育不良、视力低下和眼球震颤。1例患者有身材矮小、癫痫、智力低下及类胰岛素样生长因子1水平减低; 其余3例智力及运动发育迟缓。头颅磁共振显示1例患者视神经和视交叉变细, 垂体结构不清; 余3例均表现为脑中线结构缺陷, 包括典型胼胝体缺如、左侧脑发育不良、脑室扩张和胼胝体较薄。 结论 严重视力损伤、视神经发育不良、脑中部缺陷、垂体相关激素异常及智力和运动发育迟缓是该组视隔发育不良患者的主要临床特征。 Abstract:Objective To summarize the clinical characteristics of septo-optic dysplasia (SOD). Methods The clinical data of 4 SOD patients who were admitted to our department from April 2009 to December 2012 were retrospectively analyzed. The diagnosis was based on comprehensive clinical evaluations including ophthalmological examination, brain magnetic resonance imaging (MRI) and laboratory tests. All 4 patients were followed up. Results All 4 patients had bilateral optic nerve dysplasia, severe visual impairment and nystagmus. One patient had short stature, seizures, mental retardation, nystagmus and insulin-like growth factor 1 (IGF-1) deficiency. The other 3 patients had development retardation. On the brain MRI, one patient showed blurred pituitary structure, thin optic nerves and optic chiasm. Midline brain defects, including absence of corpus callosum brain dysplasia, agenesis of corpus callosum and dilation of ventricular system were observed in the other patients. Conclusions Severe visual impairment, optic nerve dysplasia, midline brain defects, pituitary endocrine dysfunction and development retardation are the main clinical characteristics of SOD. -
表 1 4例视隔发育不良患者的临床特征
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