Abstract

Background: Intracranial teratomas represent a rare subset of neoplasms characterized by tissues derived from multiple germ layers within the cranial cavity. These tumors, originating from primordial germ cells, exhibit diverse clinical presentations and histopathological features. While predominantly located along the midline axis, including the suprasellar cistern and pineal region, they can also manifest in less common areas such as ventricles and hypothalamic regions. Histopathologically, they are classified as mature, immature, or malignant based on the degree of tissue differentiation.

Case Description: Male patient with prenatal care for congenital hydrocephalus born at 38 weeks gestation with a bulging fontanelle. Postnatal imaging revealed an intraventricular lesion, later diagnosed through magnetic resonance imaging as a mature teratoma invading the lateral ventricle and extending to the hypothalamus. Surgical resection achieved total macroscopic removal followed by successful postoperative ventriculoperitoneal shunting due to evolving hydrocephalus.

Conclusion: Teratomas are uncommon tumors, and prognosis depends on tumor size and location, especially considering the rarity of mature teratomas. Complete surgical resection is paramount for treatment, leading to a better prognosis and quicker recovery. In cases where complete removal is challenging, adjuvant therapies and cerebrospinal fluid diversion may be required to enhance therapeutic outcomes and ensure successful resection.

Keywords: Brain neoplasms, Congenital, Teratoma

INTRODUCTION

Intracranial teratomas were first described in 1864 by Breslau and Rindfleisch through findings of massive intracranial tumors.[ 6 , 10 ] They are tumors composed of structures of the three layers of germ cells and can be classified histologically based on tissue differentiation.[ 22 ] They are usually suspected during a second or third-trimester ultrasound; however, confirmatory diagnosis is only possible through biopsy with histopathological analysis.[ 25 ]

The most common clinical manifestations that arouse suspicion during prenatal imaging are often macrocephaly, hydrocephalus, and polyhydramnios, which suggest the growth of an intracranial mass.[ 9 ] Even if there is early detection, the prognosis of intracranial tumor is not favorable, and the chance of survival is about 28%.[ 19 ]

Neurosurgical treatment with total tumor resection is considered the therapeutic option of choice and should be approached according to the patient’s clinical stability and the tumor findings found in imaging studies. Successfully treated cases are rare, and the treatment success rate is attributed to the location, extent, and histological composition.[ 32 ]

This report describes a case of mature intracranial teratoma in which congenital hydrocephalus was the clinical manifestation during prenatal care. The importance of documenting this case report lies in underscoring the significance of prompt diagnosis and appropriate management strategies to enhance patient outcomes. In addition, by presenting this case, we aim to contribute to the existing body of literature on intracranial teratomas and further elucidate their clinical presentation, diagnostic process, and therapeutic considerations.

CASE DESCRIPTION

Male patient, in prenatal care due to congenital hydrocephalus of undefined etiology, born at 38 weeks of gestation, weight 2.9 kg, and APGAR score 9/10. After birth, transfontanellar ultrasonography was performed, which showed intraventricular lesions. The diagnosis of intracranial teratoma in the following case was made by means of complementary magnetic resonance imaging (MRI), which showed an expansive and homogeneous intraventricular lesion, without contrast, isointense to the brain parenchyma, with surrounding calcified material, invading the body and anterior horn of the right lateral ventricle, and extending through the third ventricle to the hypothalamus [ Figures 1 and 2 ].

Figure 1:

Preoperative magnetic resonance: T1-weighted axial section demonstrating severe hydrocephalus.

Figure 2:

Preoperative magnetic resonance: coronal T1-weighted slice showing expansive, homogeneous, and isointense right intraventricular lesion to the brain parenchyma, with surrounding calcified material.

A differential diagnosis that was considered was ependymoma, which is a neoplasm composed of neoplastic ependymal cells affecting mainly children and young adults. However, most ependymomas are located in the posterior fossa, and more than half of those located in the intraventricular region are located in the fourth ventricle. On non-contrast computed tomography (CT) scans, intraventricular ependymomas appear as isodense lesions with calcifications, whereas contrast-enhanced CT scans show heterogeneous enhancement. On MRI, solid or mixed solid-cystic tumors may be seen.

The surgical treatment of the case was performed after 6 days of the patient’s life by means of a right frontal craniotomy, with total macroscopic resection by transcortical approach, through the right middle frontal gyrus, associated with access through the choroidal fissure that was already dilated by the tumor, allowing access to the third ventricle [ Figure 3 ]. There were no intraoperative complications. The open surgical route was considered the best option in comparison with endoscopic removal, taking into account the possibility of blood loss due to vascular injury, given the size and vascular involvement of the lesion. Macroscopic and microscopic analysis of the tumor [ Figure 4 ] revealed fragments of cerebral nervous tissue in the midst of zones of gliosis with a reactive pattern, a lesion with morphological aspects suggestive of mature teratoma. After immunohistochemistry [ Figure 5 ], associated with the morphological picture, they led to the diagnosis of mature teratoma.

Figure 3:

Postoperative magnetic resonance: coronal T1-weighted section with gadolinium after 18 months of surgery demonstrating complete resection of the lesion.

Figure 4:

Microscopic examination. (a) ×40 fragments of brain nerve tissue showing neocortex with preserved architecture, with areas of associated reactional pattern gliosis. (b) ×100. (c) ×400.

Figure 5:

Immunohistochemical examination. (a) KI-67 positive, reaching about 8% in hot spots. (b) Glial fibrillary acidic protein (GFAP) is positive in areas of interest. (c) Synaptophysin is positive in areas of neuronal differentiation. (d) Neurofilament is positive in areas of neuronal differentiation. (e) Olig-2 positive in a few cells of interest. (f) Alpha thalassemia/mental retardation X-linked (ATRX) is positive in cells of interest.

The child remained under observation in the intensive care unit for 48 hours after surgery, developed hypertensive hydrocephalus in the following 2 weeks, and a ventriculoperitoneal shunt was performed without complications and with resolution of symptoms, with the patient being discharged from the hospital 3 days after the shunt. During follow-up, the patient manifested epilepsy after 7 months of surgery and continued with infantile spasms from 7 to 12 months of age until the seizures were controlled with the use of the medication levetiracetam. At present, the patient is in postoperative control for 30 months, with no recurrences, and continues to use the medication. The patient is undergoing physiotherapeutic follow-up treatment and presents mild hypotonia in the lower limbs associated with slight external rotation and abduction. He is using daily and bilateral suropodalic orthosis to improve bipedal support in standing and gait support. The patient performs independent walking, with preserved static and sound balance, transferring weight onto both feet during walking, and can develop quick and coordinated movements in a static position and while walking. His range of motion remains normal, without contractures. He presents satisfactory improvement from the proposed intervention and continuous physiotherapeutic treatment for better results. However, the patient is in the expected development parameters for his age.

DISCUSSION

This discussion is based on a literature review composed of articles from the PubMed database. To search for articles, the following keywords were entered: “Teratoma,” “intracranial,” and “congenital,” and the Boolean operator “AND” were used to combine the keywords and increase the number of studies published in the database. The inclusion criteria were the following: case reports of congenital intracranial teratomas and articles that addressed cases of mixed teratoma or those with a predominantly extracranial location and approach, and also that were studies in a language other than Portuguese, English, and Spanish were excluded from the study. There were no time duration filters. Thus, 205 articles were found and from them, only 58 studies met the established criteria and served as a basis for our discussion. In the preparation of Table 1 , we included 18 studies that specifically dealt with mature congenital intracranial teratoma, with the same histopathological profile as the case we are reporting, totaling 26 cases.

Table 1:

Congenital intracranial teratomas with mature histopathology.

Teratomas represent a rare class of neoplasms characterized by the presence of tissues derived from the three primordial germ layers: ectoderm, mesoderm, and endoderm.[ 11 ] Its origin is associated with primordial germ cells that fail to migrate properly during the initial weeks of embryonic development.[ 1 ] These tumors are predominantly found in the sacrococcygeal and presacral regions (40–70%), with a low incidence of occurrence of intracranial teratomas.[ 30 ] Within the spectrum of congenital intracranial tumors, which comprise between 0.5 and 1.5% of brain neoplasms in children, teratomas are the most common, with a prevalence of 28.8 and 50.0% of central nervous system tumor cases.[ 24 ]

In newborns, teratomas tend to manifest predominantly in areas such as the skull, neck, and sacrococcygeal region, while in adults and adolescents, the most frequently affected sites are the gonads, the retroperitoneum, and also the sacrococcygeal region.[ 12 ] They can be classified according to their histopathological analysis: mature, immature, and malignant. This classification is based on the degree of differentiation of the tissues, the latter being characterized by being a mature or immature teratoma that has malignant components represented by germ cells (atypical teratoma) and undifferentiated embryonic cells.[ 5 , 40 ] Malignant teratomas are thought to be more closely associated with immature teratomas due to the possibility of future differentiation, while mature teratomas are more closely related to benignity.[ 17 ] However, little is known about what pathological features make immature teratomas aggressive.[ 27 ] Our case represents a mature congenital intracranial teratoma.

Intracranial teratomas tend to arise in the midline so that 81– 95% are along an axis that runs from the suprasellar cistern to the pineal region, with common regions for the location being the pineal region, suprasellar region, and the cerebral hemispheres.[ 29 ] Although less common, they can also be seen in the ventricles and hypothalamic area, as illustrated in our case. Other sites described include the cavernous sinus and occupation of almost every brain region.[ 31 , 40 ] In addition, extensions beyond the skull can occur, manifesting as facial tumor growth, ocular protrusion, and respiratory impairment due to neoplastic expansion.[ 2 , 20 , 23 ]

Based on the case reports analyzed for this study, it is found that immature intracranial teratomas have a significant incidence, representing more than 60% of the cases of congenital teratomas in this region. No statistically significant differences were identified in relation to the sex of the affected patients, and the most common mode of delivery is a cesarean section, particularly when a teratoma is diagnosed during the fetal period. The prognosis of these patients remains unfavorable, with an approximate survival rate of 22.39%, evidencing the complexity and severity of this condition. It is important to note that a significant portion of the studies reviewed did not provide sufficiently detailed information to allow a more comprehensive statistical analysis, and the figures presented reflect a general synthesis of the characteristics available in the studies examined.

At present, a significant proportion of congenital intracranial teratomas are detected by fetal ultrasound during the prenatal period, predominantly in the third trimester of pregnancy.[ 13 , 16 , 18 , 27 , 31 , 34 , 39 ] Primary indicative findings include fetal head enlargement, the presence of polyhydramnios, and the identification of a heterogeneous intracranial mass with solid and cystic areas, as well as calcifications and vascularization. In addition, such teratomas may manifest with other characteristics, such as hydrocephalus, ventriculomegaly, and distortion of the intracranial anatomy. It should be noted that a normal ultrasound scan at the beginning of pregnancy does not rule out the possibility of late presentation.[ 15 ]

The use of fetal MRI is the preferred imaging modality for evaluating the morphological characteristics of the tumor and for guiding the neurosurgery team in defining management and prognostic strategies[ 16 ] as well as for delineating the extent of the tumor more accurately, especially if it is in the posterior fossa.[ 7 ] In our case, hydrocephalus of undetermined origin was identified during the prenatal period, and at birth, the baby presented with bulging of the fontanelle, and an MRI was performed that showed the characteristics of an intracranial teratoma. In addition to imaging tests, tumor markers such as human chorionic gonadotropin and alpha-fetoprotein at high levels may provide a better basis for preoperative diagnosis.[ 28 ]

The location and size of the teratoma are considered significant prognostic factors. In the case of localization, most reports showed a better outcome for supratentorial localization due to the location offering a more accessible surgical approach.[ 35 ] A high MIB1/Ki-67 proliferation index is associated with a poor prognosis in several brain tumors and appears to serve as an independent poor prognostic factor for congenital intracranial teratomas.[ 27 ]

The preferred treatment is complete surgical excision, as illustrated in our study, given the rapid growth of these tumors and the curative potential of resection. Adjuvant therapies can be used when total resection is not possible, aiming to slow tumor growth and reduce tumor size and vascularization, thus facilitating total tumor resection with a lower incidence of complications and mortality.[ 21 ] Noudel et al., Maghrabi, Kitarah, and Fukuoka demonstrated that the use of adjuvant therapies can be highly beneficial in the treatment of intracranial teratomas, potentially increasing survival and success of tumor resection.[ 14 , 21 , 24 , 29 ] Chemotherapy, for example, in addition to being widely tolerated and accepted in this age group, has been the best option as an adjuvant therapy in many tumors when the mass is incompletely resected or in cases of malignant teratoma despite complete resection.[ 28 ]

As in our case, it is common for it to be necessary to perform a cerebrospinal fluid bypass due to hydrocephalus caused by the growth of the teratoma tumor mass.[ 11 , 14 , 17 , 18 , 20 , 27 , 29 , 39 ]

CONCLUSION

In our reported case, the identification of hydrocephalus in the prenatal period served as a crucial indicator despite no detectable changes in the ultrasound examination were evident at this point. The efficient identification of the teratoma after birth enabled subsequent successful management, highlighting the fundamental role of total tumor resection in achieving favorable outcomes. In addition, the case underscores the necessity of adjusting the surgical strategies depending on the tumor’s position and properties, especially in areas where endoscopic removal was deemed inefficient and the open route was chosen. The postoperative management of hydrocephalus through ventriculoperitoneal shunting exemplifies the multidisciplinary approach necessary for the comprehensive treatment of these cases. Despite the fact that it was not used in our case, recent studies have shown that adjuvant therapy has also proved to be useful in such cases of intracranial teratomas, particularly when resection is insufficient.

The analysis of the presented case study reveals the importance of case-specific conclusions and a multidisciplinary treatment plan. Each case offers unique insights into diagnostic challenges, surgical considerations, and postoperative care, thereby enriching the existing literature and informing future clinical practices.

Ethical approval

The Institutional Review Board approval is not required.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

Use of artificial intelligence (AI)-assisted technology for manuscript preparation

The authors confirm that there was no use of artificial intelligence (AI)-assisted technology for assisting in the writing or editing of the manuscript and no images were manipulated using AI.

Disclaimer

The views and opinions expressed in this article are those of the authors and do not necessarily reflect the official policy or position of the Journal or its management. The information contained in this article should not be considered to be medical advice; patients should consult their own physicians for advice as to their specific medical needs.

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