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Multicentric paraspinal neuroglial heterotopia with Müllerian and renal agenesis: a variant of Mayer-Rokitansky-Küster-Hauser syndrome?

Lu-Hau Deng1 and Chii-Hong Lee2*

Author Affiliations

1 Department of Pathology, Taipei Medical University-Wan Fang Hospital, 111, Section 3, Hsing-Long Road, Taipei 11696, Taiwan

2 Department of Pathology, Taipei Medical University-Shuang Ho Hospital, 291, Zhongzheng Road, Zhonghe District, New Taipei City 23561, Taiwan

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Diagnostic Pathology 2013, 8:141  doi:10.1186/1746-1596-8-141

Published: 22 August 2013


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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Neuroglial heterotopia; Müllerian agenesis; Renal agenesis; Mayer-Rokitansky-Küster-Hauser syndrome; Pathogenesis