脑病新生儿垂体柄中断综合征1例报告

Mary J. Jose, L. Leijser, A. Pauranik, H. Amin
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引用次数: 0

摘要

垂体柄中断综合征是一种罕见的脑中线异常,累及垂体,导致不同程度的垂体功能减退,典型的神经影像学表现为垂体后叶异位,垂体柄变薄或缺失,垂体前叶发育不全。我们报告一例足月新生儿在新生儿期出现脑病和呼吸窘迫,后来被诊断为垂体柄中断综合征。遗传缺陷已在5%的病例中被确定,有时还存在相关的垂体外畸形。尽管是一个很好的描述综合征,其新生儿表现和过程的详细描述是缺乏文献。
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Pituitary Stalk Interruption Syndrome in a Newborn with Encephalopathy: A Case Report
Pituitary Stalk Interruption Syndrome is a rare midline brain anomaly involving the pituitary gland that leads to a variable degree of pituitary hypofunction with a classic neuroimaging finding of the ectopic posterior pituitary, thin or absent pituitary stalk, and anterior pituitary hypoplasia. We present the case of a term newborn who developed encephalopathy and respiratory distress during the neonatal period and was later diagnosed with Pituitary Stalk Interruption Syndrome. Genetic defects have been identified in 5% of cases, and at times there are associated extra pituitary malformations. In spite of being a welldescribed syndrome, a detailed description of its neonatal presentation and course is lacking in the literature.
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