首页> 美国卫生研究院文献>Diagnostic Pathology >Multicentric paraspinal neuroglial heterotopia with Müllerian and renal agenesis: a variant of Mayer-Rokitansky-Küster-Hauser syndrome?
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Multicentric paraspinal neuroglial heterotopia with Müllerian and renal agenesis: a variant of Mayer-Rokitansky-Küster-Hauser syndrome?

机译:多中心椎旁神经胶质异位症伴有缪勒氏和肾发育不全:Mayer-Rokitansky-Küster-Hauser综合征的变体?

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摘要

AbstractNeuroglial heterotopia is a rare congenital anomaly that mostly involves the head and neck region. We report a female fetus with multicentric paraspinal neuroglial heterotopia in the retropharyngeal and retroperitoneal spaces, right renal agenesis, left renal hypoplasia, and Müllerian agenesis. Additional findings included bilateral preaxial polydactyly of the hands, megacystis, rectovesical fistula, and imperforate anus. The karyotype was 46, XX. This fetus had the features of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome with paraspinal neuroglial heterotopia. This is the first report of the co-occurrence of these two malformations which could share a common pathogenetic mechanism. We suggest this to be a variant MRKH syndrome.
机译:摘要神经胶质细胞异位症是一种罕见的先天性畸形,主要涉及头颈部区域。我们报告了女性胎儿在咽后和腹膜后间隙多发性椎旁神经胶质异位症,右肾发育不全,左肾发育不全和缪勒氏发育不全。其他发现包括双手的双侧前轴多指,巨囊,直肠膀胱瘘和肛门无孔。核型是46,XX。该胎儿具有Mayer-Rokitansky-Küster-Hauser(MRKH)综合征伴脊髓旁神经胶质异位症的特征。这是这两种畸形并存的首次报道,它们可能具有共同的致病机制。我们建议这是MRKH综合征的一种变体。

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