- Case Report
- Open Access
Multicentric paraspinal neuroglial heterotopia with Müllerian and renal agenesis: a variant of Mayer-Rokitansky-Küster-Hauser syndrome?
© Deng and Lee; licensee BioMed Central Ltd. 2013
- Received: 11 June 2013
- Accepted: 8 August 2013
- 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.
The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/3246922721015286.
- Neuroglial heterotopia
- Müllerian agenesis
- Renal agenesis
- Mayer-Rokitansky-Küster-Hauser syndrome
Neuroglial heterotopia is a rare congenital anomaly that is probably related to neural tube defects [1–4]. It mostly affects the head and neck region, especially the nasal cavity. Only a few cases have been reported at other sites, such as the lungs  and retroperitoneum [2, 6, 7]. Multicentricity is exceptional , and concomitant congenital anomalies have not been reported in English literature. Here we present an unusual case of multicentric neuroglial heterotopia involving the retroperitoneal and retropharyngeal spaces accompanied by Müllerian agenesis, bilateral ovarian agenesis, right renal agenesis, left renal hypoplasia, rectovesical fistula, imperforate anus, and polydactyly.
A 26-year-old female received regular prenatal care at our obstetric department during her second pregnancy. Oligohydramnios and fetal megacystis were detected by routine ultrasound at the 14th week of gestation. An amniocentesis test revealed a normal female 46, XX karyotype. The mother decided to terminate the pregnancy.
Heterotopia, or choristoma, is applied to aggregates of normally formed tissues that are present in aberrant anatomical locations. Examples of heterotopias include a patch of gastric mucosa in the upper third of the esophagus, a rest of pancreatic tissue in the gastrointestinal wall, or a parathyroid gland within the thymus in the anterior mediastium. Heterotopia is usually an incidental finding, but it can be confused clinically with a neoplasm. In exceptional cases, true neoplasms may arise from heterotopic tissues [8, 9].
Neuroglial heterotopia is a rare developmental anomaly with a rich variety of clinical features, pathological findings, and pathogenetic mechanisms. Based on anatomical location and pathological differentiation, Hori et al. proposed a classification of neuroglial heterotopia into extraneuraxial and paraneuraxial groups . Extraneuraxial neuroglial heterotopia is much more common and usually involves the nasal cavity or the superficial soft tissue of the head and neck. Pathologically, it is characterized by a disorganized mixture of neuroglial and mesenchymal tissues or a lump of organized neural tissue similar to normal brain histology. It is often obvious at birth but may remain asymptomatic until late childhood or even adulthood. Complete surgical excision is curative in most cases [1, 3, 10, 11]. On the other hand, paraneuraxial neuroglial heterotopia is rare and may involve the paracranial or paraspinal spaces, such as the occipital bone, retroperitoneum, and deep neck. It is composed of organized brain tissue and is usually diagnosed shortly after delivery or in early childhood. Disease-related complications are common [2, 6, 7, 12, 13].
The pathogenesis of neuroglial heterotopia is uncertain. Several pathogenetic hypotheses of extraneuraxial neuroglial heterotopia have been proposed, including (1) herniation of neuroectodermal tissue through a primary bony defect that is followed by a partial or complete secondary closure resulting in sequestration of the herniated tissue [1, 3]; (2) separation and detachment of cerebral precursors (which later mature ectopically) from the brain primordium in early embryogenesis [1, 12]; (3) aberrant migration of pluripotential embryonic tissue with subsequent neuroglial differentiation ; (4) retention of neuroectodermal remnants ; and (5) teratoma formation with a predominant or exclusive neuroglial component . However, no single hypothesis can completely explain all the varieties of extraneuraxial neuroglial heterotopia. In contrast, paraneuraxial neuroglial heterotopia is closely related to neural tube defects, such as encephalocele and myelomeningocele. For instance, paraneuraxial neuroglial heterotopia shares a similar anatomical distribution and histological features with encephalocele and myelomeningocele [2, 5–7, 12, 13]. A connection between the heterotopic neuroglial tissue and the intervertebral region via a string of connective tissue is found in some cases, and this gross picture is not much different from that of a myelomeningocele with an obliterated connection to the spinal cord [2, 6]. Accordingly, the “herniation and sequestration” hypothesis seems tenable to explain the pathogenesis of paraneuraxial neuroglial heterotopia. The process of “herniation and sequestration” acts like a mild or “partially corrected” version of neural tube defects. This is probably why concomitant congenital anomaly is far less frequent in paraneuraxial neuroglial heterotopia than in encephalocele and myelomeningocele.
In this report, we present a case of multifocal paraneuraxial, paraspinal neuroglial heterotopia concomitant with congenital anomalies associated with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. MRKH syndrome is regarded as an inhibitory malformation of the Müllerian ducts. It is characterized by agenesis of the uterus and the upper two-thirds of the vagina in individuals with a normal female karyotype [15, 16]. Associated anomalies of the renal, skeletal and cardiovascular systems are present in about half of cases, and this severe form of the disease is categorized as atypical MRKH or MURCS association [15, 16]. Ovarian agenesis, imperforated anus, polydactyly, and encephalocele have also been reported [15–18]. Although the pathogenesis of MRKH syndrome remains unclear, it is suggested that the spectrum of anomalies are attributed to the extent of developmental field defects that primarily affect the fetal mesoderm or its progenitor tissue in early embryogenesis . When such mesodermal defects involve the paraaxial mesoderm, encephalocele, myelomeningocele and paraneuraxial neuroglial heterotopia may develop [1, 3, 19]. Given the similarity of the pathogenetic hypotheses for paraspinal neuroglial heterotopia and Müllerian agenesis, we suggest that the present case constitutes an unusual variant of MRKH syndrome.
Written informed consent was obtained from the parent of the fetus for the use of the images and case presentation for educational and scientific purposes provided the unique personal identification is not revealed.
- Downing MT, Hamoudi AB, Besner GE: Brain heterotopia: choristoma of the back. Pediatr Surg Int. 1997, 12: 183-185. 10.1007/BF01349994.View ArticleGoogle Scholar
- Hori A, Brandis A, Walter GF, Petersen C, Massmann J: Retroperitoneal ectopic neural mass: “abdominal brain”–presentation of two cases and proposal of classification of paraneuraxial neural ectopia. Acta Neuropathol. 1998, 96: 301-306. 10.1007/s004010050898.View ArticlePubMedGoogle Scholar
- Penner CR, Thompson L: Nasal glial heterotopia: a clinicopathologic and immunophenotypic analysis of 10 cases with a review of the literature. Ann Diagn Pathol. 2003, 7: 354-359. 10.1016/j.anndiagpath.2003.09.010.View ArticlePubMedGoogle Scholar
- Buccoliero AM, Caldarella A, Noccioli B, Fiorini P, Taddei A, Taddei GL: Brain heterotopia in pharyngeal region. A morphological and immunohistochemical study. Pathol Res Pract. 2002, 198: 59-63. 10.1078/0344-0338-00186.View ArticlePubMedGoogle Scholar
- Balci S, Nabaei SM, Ozaltin F, Onol B: Bilateral subpleural ectopic brain tissue in a 23-week-old fetus. Turk J Pediatr. 2001, 43: 273-275.PubMedGoogle Scholar
- Hahlbohm AM, Hori A, Hoyer PF, Petersen C: Ectopic neural tissue as an unusual cause of a retroperitoneal tumor. Pediatr Surg Int. 1997, 12: 66-68.View ArticlePubMedGoogle Scholar
- Wan J, Ritchey ML, Muraszko K, Bloom DA: Retroperitoneal neurogenous choristoma. J Urol. 1992, 148: 1867-1868.PubMedGoogle Scholar
- Tsapralis D, Charalabopoulos A, Karamitopoulou E, Schizas D, Charalabopoulos K, Liakakos T, Macheras A: Pancreatic intraductal papillary mucinous neoplasm with concomitant heterotopic pancreatic cystic neoplasia of the stomach: a case report and review of the literature. Diagn Pathol. 2010, 5: 4-10.1186/1746-1596-5-4.PubMed CentralView ArticlePubMedGoogle Scholar
- Dzodic R, Stanojevic B, Saenko V, Nakashima M, Markovic I, Pupic G, Buta M, Inic M, Rogounovitch T, Yamashita S: Intraductal papilloma of ectopic breast tissue in axillary lymph node of a patient with a previous intraductal papilloma of ipsilateral breast: a case report and review of the literature. Diagn Pathol. 2010, 5: 17-10.1186/1746-1596-5-17.PubMed CentralView ArticlePubMedGoogle Scholar
- Rahbar R, Resto VA, Robson CD, Perez-Atayde AR, Goumnerova LC, McGill TJ, Healy GB: Nasal glioma and encephalocele: diagnosis and management. Laryngoscope. 2003, 113: 2069-2077. 10.1097/00005537-200312000-00003.View ArticlePubMedGoogle Scholar
- Arndt S, Wiech T, Mader I, Aschendorff A, Maier W: Rare extracranial localization of primary intracranial neoplasm. Diagn Pathol. 2008, 3: 14-10.1186/1746-1596-3-14.PubMed CentralView ArticlePubMedGoogle Scholar
- Tubbs RS, Kelly DR, Wellons JC, Blount JP, Oakes WJ, Georgeson K: Ectopic brain tissue in a neonate. Pediatr Neurosurg. 2003, 39: 136-138. 10.1159/000071650.View ArticlePubMedGoogle Scholar
- Aboud MJ: Respiratory difficulty caused by an ectopic brain tissue mass in the neck of a two-month-old baby: a case report. J Med Case Rep. 2011, 5: 220-10.1186/1752-1947-5-220.PubMed CentralView ArticlePubMedGoogle Scholar
- Bratton AB, Robinson SH: Gliomata of the nose and oral cavity; a report of two cases. J Pathol Bacteriol. 1946, 58: 643-648. 10.1002/path.1700580406.View ArticlePubMedGoogle Scholar
- Oppelt P, Renner SP, Kellermann A, Brucker S, Hauser GA, Ludwig KS, Strissel PL, Strick R, Wallwiener D, Beckmann MW: Clinical aspects of Mayer-Rokitansky-Kuester-Hauser syndrome: recommendations for clinical diagnosis and staging. Hum Reprod. 2006, 21: 792-797.View ArticlePubMedGoogle Scholar
- Morcel K, Camborieux L, Guerrier D: Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. Orphanet J Rare Dis. 2007, 2: 13-10.1186/1750-1172-2-13.PubMed CentralView ArticlePubMedGoogle Scholar
- Gilliam ML, Shulman LP: Tetralogy of Fallot, imperforate anus, and Mullerian, renal, and cervical spine (MURCS) anomalies in a 15-year-old girl. J Pediatr Adolesc Gynecol. 2002, 15: 231-233. 10.1016/S1083-3188(02)00161-4.View ArticleGoogle Scholar
- Suri M, Brueton LA, Venkatraman N, Cox PM: MURCS association with encephalocele: report of a second case. Clin Dysmorphol. 2000, 9: 31-33. 10.1097/00019605-200009010-00006.View ArticlePubMedGoogle Scholar
- Marin-Padilla M: Notochordal-basichondrocranium relationships: abnormalities in experimental axial skeletal (dysraphic) disorders. J Embryol Exp Morphol. 1979, 53: 15-38.PubMedGoogle Scholar
This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.