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

Abstract

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.Virtual slidesThe virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/3246922721015286.

Retroperitoneal neuroglial heterotopia: a case report and literature review

“…Moreover, serum NSE testing was omitted during the follow-up period. Immunohistochemically, NSE exhibited positive expression, aligning with findings in similar cases ( 5 , 7 , 11 , 15 ). Histologically, neuroglial heterotopia is characterized by mature astrocytes and glial fibers within a fibrovascular stroma, along with rare components like neurons, choroid plexus, and oligodendrocytes.…”

“…While the preoperative serum NSE level was elevated in our case, this phenomenon was not observed in other cases (1)(2)(3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15). We explored the potential correlation between this elevation in NSE and the size of the mass, considering our case is the largest documented to date.…”

“…Other reported sites of occurrence include the oropharynx, middle ear, eyes, orbit, skull, tongue, lips, scalp, lung, skin, extremities, peritoneum, and ovaries (3)(4)(5)(6)(7). Since its initial description by Wan et al (8), only five cases in the retroperitoneum have been documented (8)(9)(10)(11)(12). In this report, we present a further case involving a huge retroperitoneal neuroglial heterotopia that was successfully resected laparoscopically.…”

“…However, this specific anatomical distribution was not identified in other cases. Fetal cases were associated with congenital anomalies such as facial dysmorphism, abdominal wall defects, and Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome ( 10 , 11 ). Typically, unilateral involvement of the retroperitoneum is observed, with a unifocal solid, soft, or cystic mass that compresses contiguous structures.…”

“…Immunohistochemical staining for GFAP, S100, and NSE corroborated the presence of glial tissue in the current case. Additional markers such as synaptophysin ( 2 , 5 , 6 , 10 , 12 , 14 ), NeuN ( 7 ), vimentin ( 5 , 9 , 14 ), chromogranin A (CGA) ( 2 ), CD56 ( 11 ), and neurofilament (NF) ( 5 – 7 ) contribute to confirming the diagnosis. It is imperative to further validate serum NSE or alternative biomarkers as diagnostic and prognostic tools for neuroglial heterotopia, necessitating a larger sample size to bolster their significance.…”