Department of Pathology, Taipei Medical University-Shuang Ho Hospital, 291, Zhongzheng Road, Zhonghe District, New Taipei City 23561, Taiwan.
Diagn Pathol. 2013 Aug 22;8:141. doi: 10.1186/1746-1596-8-141.
Neuroglial 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.
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神经胶质异位是一种罕见的先天性异常，主要涉及头部和颈部区域。我们报告了一例女性胎儿，其发生在后咽和腹膜后间隙的多灶性脊柱旁神经胶质异位，伴有右肾缺如、左肾发育不全和米勒管发育不全。其他发现包括双手双侧近轴多指畸形、巨膀胱、直肠膀胱瘘和肛门闭锁。核型为 46，XX。该胎儿具有梅耶-罗基坦斯基-库斯特-豪泽综合征（MRKH 综合征）伴脊柱旁神经胶质异位的特征。这是这两种畸形同时发生的首例报道，它们可能具有共同的发病机制。我们建议这是一种变异型 MRKH 综合征。
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