Prenatal Diagnosis of Meningomyelocele Resolves as a Mature Cystic Teratoma in the Thoracolumbar Region

doi:10.21203/rs.3.rs-3783272/v1

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Case Report

Prenatal Diagnosis of Meningomyelocele Resolves as a Mature Cystic Teratoma in the Thoracolumbar Region

https://doi.org/10.21203/rs.3.rs-3783272/v1

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published 29 Apr, 2024

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A mature cystic teratoma is a mass with heterogeneous appearance, consisting of adult tissue with two or three layers: endoderm, mesoderm, and ectoderm. It is a rare, benign transformation of somatic tissue most commonly found in the sacrococcygeal region and may resemble an uncomplicated spina bifida on prenatal ultrasonography. In this case report, we describe a female newborn with an extremely rare mature cystic teratoma in the thoracolumbar region. She presented prenatally with a preliminary diagnosis of meningomyelocele, diastematomyelia, and Chiari II malformation and a possible teratoma. However, a mass containing solid glandular tissues and bony calcifications approximately 3 x 4 cm in size was observed in the thoracolumbar region upon birth. During surgical resection, no nerve roots were found in the associated meningocele. The patient retained full lower body function postoperatively following surgical excision of the thecal sac and teratoma.

Chiari

Diastematomyelia

Meningomyelocele

Neural tube defect

Teratoma

tethered spinal cord

A mature cystic teratoma is a mass with heterogeneous appearance, consisting of adult tissue with two to three layers: endoderm, mesoderm, and ectoderm. Presentations in newborns with spinal teratomas are typically found in the sacrococcygeal area with a higher incidence in female infants (1 in every 35,000 live births) (Lu, Yueh-Hsun et al., 2013). In this case report, we report a rare, mature cystic lumbar teratoma, which presented prenatally with a preliminary diagnosis of meningomyelocele, split cord malformation, Chiari II malformation and a possible teratoma. However, a thecal sac containing solid glandular tissues and bony calcifications approximately 3 x 4 cm in size was seen in the lumbar region after birth (see Fig. 1).

In this case study our patient was found to have a lumbar midline defect detected on prenatal ultrasonographic images. Following birth, a cystic sac containing solid glandular tissue and bony prominence, approximately 4 x 3 cm in size was seen in the thoracolumbar spine. On neurological examination, the female infant was moving her lower extremities proximally with hip flexion. Her feet were bilaterally flexed but there was spontaneous movement. A postnatal MRI demonstrated complex tethered cord pathology. The patient underwent surgical repair on the day after birth under general anesthesia due to the presence of a thin covered meningocele and a concern for rupture.

Operative Description

An incision above the lesion was made and the spinous process and lamina were then exposed in a subperiosteal fashion and the laminectomy was carried out at the level just above where the soft tissue mass and the meningocele came together. This allowed for visualization of normal dura. Attention was then turned towards resection of soft tissue mass which was done by creating a plane above the thecal sac with mosquitoes. The soft tissue mass was then circumferentially exposed and removed from its underlying attachments where it came close to the intradural lipoma. The attention was then turned towards resection of the meningocele. On further careful exposure of the thecal sac, there was an attachment of the meningocele to the thecal sac and a silk tie was placed around the midline thecal sac with the adjacent attachment to the meningocele. At this point the meningocele was entered using a 15-blade and bipolar electrocautery and tenotomies and no nerve roots were found within the meningocele. There was some fluid within the meningocele. It was determined that this was not a myelomeningocele and there were no neural components. Therefore, at the site of the silk suture, the meningocele was amputated. The attention was then turned towards resection of the intradural lipoma which had been visualized on the neuroimaging. To do this, the dura was opened in the midline using a 15-blade and a release of the tethered cord was then carried out using micro instruments. During this portion, we were able to completely amputate the dorsal mass. It was attached dorsally to the lipoma. No nerve roots were seen within the intradural lipoma. After doing this the attention was turned towards the type I diastematomyelia and as expected, a bony septum was encountered at the level of the defect. There were several fibrous attachments dorsally to the split portions of the dura. These were carefully cut. The bony septum was then carefully exposed from all sides and removed with a combination of pituitary and bipolar electrocautery. Dura-Guard was then cut to size and 4 − 0 silk sutures were used to carry out a duraplasty. The wound was then closed by plastic surgery by bringing the paraspinal muscles together and closure was done in layers.

Post-operatively the patient had normal neurologic function in the feet and voided well within the first day. She continues to develop appropriately and has not required a shunt.

Pathology

Histopathological evaluation revealed that the resected meningocele sac was composed of skin with underlying dermis with edema and dilated vessels. There were no adnexal structures noted (Figures A and B) and the deep portion of the specimen showed a dense fibroconnective tissue that may represent dura. The mass-like lesion was composed of mature elements from all three germinal layers (Figures C and D). There was mature gastrointestinal epithelium, cartilage, adipose tissue, ganglion and cellular mesenchyme. No significant atypia or immature elements are present, consistent with a mature teratoma.

Spinal dysraphisms encompass a diverse range of congenital anomalies that arise from incomplete closure of the neural tube during embryonic development. This group includes conditions such as spina bifida, tethered cord syndrome, and other neural tube defects that affect the spinal cord and vertebral column. It’s important to distinguish spinal dysraphisms from spina bifida aperta: spinal dysraphisms refer to a broader term that encompasses a range of congenital anomalies involving abnormal development of the spinal cord versus spina bifida aperta, which refers to an open lesion in which there is an open neural tube defect, allowing for the spinal cord and meninges to protrude through the back. This discussion focuses on spinal dysraphisms, which include other examples such as diastematomyelia, lipomyelomeningocele, and other abnormalities in the spinal cord, nerve roots, and surrounding structures.

There are several types, each with varying degrees of severity. The clinical spectrum of spinal dysraphisms is broad, ranging from asymptomatic as in spina bifida occulta, to severe forms like myelomeningocele (see Table 1). The classification systems, including the Chicago and Pang classifications, categorize these anomalies based on their anatomical and clinical features.

Chiari Type II malformation is primarily associated with open spinal dysraphisms, particularly myelomeningoceles. It is characterized by the downward displacement of the cerebellum and brainstem through the foramen magnum. While Chiari Type II malformations can be found in association with other types of open spinal dysraphisms, their association with closed spinal dysraphisms or other spinal anomalies like diastematomyelia is less common.

Table 1

Types of Spinal Dysraphisms and Incidences
Type	Spina Bifida Occulta	Meningocele	Myelomeningocele	Tethered Cord Syndrome	Lipomyelo-meningocele	Diastematomyelia
Description	There is a small gap or opening in one or more of the vertebrae of the spine, but the spinal cord and the meninges do not protrude through the opening. The spinal defect is often covered by a layer of skin, and there may be no visible signs or symptoms.	Meningoceles occur when the meninges protrude through an opening in the spine, forming a sac filled with cerebrospinal fluid. The spinal cord itself does not protrude through the opening. Unlike Myelomeningoceles, these are scarcely reported with an associated Chiari II malformation.	Myelomeningocele is the most severe form of spina bifida. In this type, both the meninges and the spinal cord protrude through an opening in the spine, forming a fluid-filled sac. The exposed nerves are often damaged, leading to various degrees of paralysis, bowel and bladder dysfunction, and other neurological complications. These are almost always associated with Chiari II malformations(here)	A condition in which the spinal cord is abnormally attached to surrounding tissues, limiting its movement within the spinal canal. This attachment can lead to stretching of the spinal cord and cause various neurological and orthopedic symptoms.	a type of neural tube defect in which fatty tissue (lipoma) extends from the spinal cord and protrudes through a defect in the spine. This condition is often present at birth and can lead to tethering of the spinal cord, causing neurological symptoms. The severity of symptoms can vary depending on the size and location of the lipoma	a rare congenital anomaly in which the spinal cord is divided into two parts by a bony or fibrous septum. This septum can lead to a cleft within the spinal canal, and each half of the spinal cord may have its own protective covering. Diastematomyelia is often associated with other spinal abnormalities and can lead to tethering of the spinal cord.
Incidence	Spina bifida occulta is estimated to occur in about 10–20% of the general population, making it the most common type. Many people with spina bifida occulta may not even be aware of their condition because it often does not cause significant health problems	Meningocele is less common than spina bifida occulta. It accounts for a small percentage of all spina bifida cases (Trapp, et al). Meningoceles represent about 2.4% of all closed spinal dysraphisms (Trapp, et al).	Myelomeningocele is the least common but most clinically significant type of spina bifida. The incidence can vary by geographical region, but globally, it is estimated to occur in approximately 1 in 1,000 live births.	Tethered cord syndrome (TCS) is a condition characterized by neurological, gastrointestinal, musculoskeletal, and urinary dysfunction attributable to spinal cord traction, with an incidence estimated at 0.25 per 1,000 births (Bhimani et al)	Its prevalence is estimated to be around 1 to 4 per 10,000 live births. Incidence rates can vary by population and geographic region	Estimated at approximately 5% of all congenital spinal defects (Ozek, et al).

Teratomas are rare, mixed germ cell tumors that can occur in various locations, including the spinal region. Spinal teratomas, such as that in our case study, are a rare occurrence, estimated at 0.15–0.18% of all spinal cord tumors with a male-to-female ratio estimated at 3:1 (Mushtaq, et al). The coexistence of a teratoma with other spinal anomalies and Chiari Type II malformation is an even more unusual presentation. While an association between myelomeningocele and Chiari II is well established, the presence of meningocele and Chiari II is rarely reported in the literature. The association of type I diastematomyelia and spinal teratoma may be related to the persistent neurenteric canal being used by pluripotent cells of the yolk sac, attempting to reach the gonads and instead becoming trapped (Balci, et al, 2021).

Each of these conditions has its own characteristic features and may present with varying degrees of severity. The overall incidence of these conditions can also be influenced by factors such as genetics, environmental exposures, and access to prenatal care.

Spinal teratomas and Chiari II malformation represent distinct yet complex challenges in spinal and neural anomalies. In cases where spinal teratomas are located in the lower spine, they may impact the dynamics of the neural tube closure, potentially contributing to the development of Chiari II malformation.

Our patient presented with an extradural thoracolumbar teratoma, intradural lipoma, type I diastematomyelia, meningocele, and a Chiari II malformation. The diagnosis of an extragonadal teratoma from a meningomyelocele with Chiari II malformation until surgical resection. Perinatal diagnosis, surgical excision, and accurate pathological diagnosis were essential to preventing future complications for the patient.

Since it is such a rare condition, careful coordinated and multidisciplinary care was essential when addressing both conditions simultaneously. Both conditions require a comprehensive approach involving accurate diagnosis, tailored surgical interventions, and long-term monitoring for optimal patient outcomes. Further research and collaboration among medical specialties are crucial to advancing our understanding of spinal teratomas and Chiari II malformations, and refining treatment strategies to improve the quality of life for affected individuals.

The parents of the patient consented to participate and publish the infant's clinical data and case.

On behalf of all authors, the corresponding author states that there is no conflict of interest.

The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

This research received no specific grant from any funding agency in the public, commercial, or not-for-profit sectors.

Author Contribution

Chen-Carrington and Tye wrote the main manuscript text. Goodreau and Leonard prepared figures and tables. Rhodes and Tye reviewed the manuscript and provided integral guidance on manuscript content and direction. All authors reviewed the manuscript.

Balci, Mahi et al. “Mature cystic teratoma mimicking meningomyelocele.” Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery vol. 37,7 (2021): 2245-2249. doi:10.1007/s00381-020-05017-3
Bale, P M. “Sacrococcygeal developmental abnormalities and tumors in children.” Perspectives in pediatric pathology vol. 8,1 (1984): 9-56.
Bhimani, A. D., Selner, A. N., Patel, J. B., Hobbs, J. G., Esfahani, D. R., Behbahani, M., ... & Mehta, A. I. (2019). Pediatric tethered cord release: an epidemiological and postoperative complication analysis. Journal of Spine Surgery, 5(3), 337.
Blencowe, Hannah et al. “Estimates of global and regional prevalence of neural tube defects for 2015: a systematic analysis.” Annals of the New York Academy of Sciences vol. 1414,1 (2018): 31-46. doi:10.1111/nyas.13548
Elmacı, İlhan, et al. "Diastematomyelia and spinal teratoma in an adult: case report." Neurosurgical focus 10.1 (2001): 1-4.
Eubanks JD, Cheruvu, VK: Prevelance of sacral spina bifida occulta and its relationship to age, sex, race, and the sacral table angle: An Anatomic osteologic study of three thousand one hundred specimens. Spine 15:1539-1543, 2009.
Hassan, A.-E.S.; Du, Y.L.; Lee, S.Y.; Wang, A.; Farmer, D.L. Spina Bifida: A Review of the Genetics, Pathophysiology and Emerging Cellular Therapies. J. Dev. Biol. 2022, 10, 22. https://doi.org/ 10.3390/jdb10020022
Lu, Yueh-Hsun et al. “Unusual giant intraspinal teratoma in an infant.” Journal of the Chinese Medical Association : JCMA vol. 76,7 (2013): 411-4. doi:10.1016/j.jcma.2013.03.006
Makary, Raafat et al. “Intramedullary mature teratoma of the cervical spinal cord at C1-2 associated with occult spinal dysraphism in an adult. Case report and review of the literature.” Journal of neurosurgery. Spine vol. 6,6 (2007): 579-84. doi:10.3171/spi.2007.6.6.12
Maiti, Tanmoy K et al. “Teratoma in split cord malformation: an unusual association: a report of two cases with a review of the literature.” Pediatric neurosurgery vol. 46,3 (2010): 238-41. doi:10.1159/000320386
Moreno-Madueño, Gloria et al. “Diastematobulbia type II without associated dermoid tumor: case report.” Journal of neurosurgery. Pediatrics vol. 27,3 311-316. 18 Dec. 2020, doi:10.3171/2020.7.PEDS20161
Mushtaq, H., Kanth, R. R., & Alam, S. (2018). Diastematomyelia due to Spinal intradural Extramedullary Teratoma in an Adult. Journal of Islamabad Medical & Dental College, 7(3), 221-224.
Nethi, Shashanka. and Kapil Arya. “Meningocele.” StatPearls, StatPearls Publishing, 17 December 2021.
Nonomura Y, Miyamoto K, Wada E, Hosoe H, Nishimoto H, Ogura H, Shimizu K (2002) Intramedullary teratoma of the spine: report of two adult cases. Spinal Cord 40:40–43. https://doi.org/10. 1038/sj.sc.3101247
Özek, M. M., Cinalli, G., Maixner, W. J., & Maixner, W. (Eds.). (2008). Spina bifida: management and outcome. Springer Science & Business Media.
Pang, D et al. “Split cord malformation: Part I: A unified theory of embryogenesis for double spinal cord malformations.” Neurosurgery vol. 31,3 (1992): 451-80. doi:10.1227/00006123-199209000-00010.
Trapp, B., de Andrade Lourenção Freddi, T., de Oliveira Morais Hans, M., Fonseca Teixeira Lemos Calixto, I., Fujino, E., Alves Rojas, L. C., ... & Dalul Gomez, G. (2021). A practical approach to diagnosis of spinal dysraphism. Radiographics, 41(2), 559-575.

No competing interests reported.

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You are reading this latest preprint version

Prenatal Diagnosis of Meningomyelocele Resolves as a Mature Cystic Teratoma in the Thoracolumbar Region

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