Congenital brain tumour in a neonate: a therapeutic challenge

Abstract

A term neonate with history of ventriculomegaly in the fetal period was diagnosed with a central nervous system tumour after radiological investigations. It was confirmed as an immature teratoma after histopathological examination. He underwent left frontal craniotomy with tumour excision. Intraoperatively, massive haemorrhage (venous bleed) occurred due to the high vascularity of the tumour and led to haemodynamic instability. A massive transfusion protocol was initiated. Despite multiple transfusions and shock management, he succumbed at 2 weeks of life. This case report highlights the importance of antenatal diagnosis and fetal MRI in prognostication and also the possible role of neoadjuvant chemotherapy in reducing tumour vascularity and, hence, bleeding.

Background

Neonatal brain tumour incidence is very low, comprising <1% of paediatric central nervous system (CNS) malignancy.¹ Among these, teratomas account for one-third of cases and are supratentorial in location.¹ The most common clinical presentation is macrocephaly (28–60%), and the second most common is hydrocephalus (17.3%).¹ We are reporting a case of a congenital brain tumour (immature teratoma) and the challenges encountered during its management. After reviewing the literature, details of all neonates who presented with a CNS tumour have been listed in table 1.

Table 1.

Clinical profile and outcomes of neonates (<28 days of life) diagnosed with intracranial teratoma: a review of literature

Author	Age at diagnosis	Signs and symptoms	Investigation for diagnosis	Tumour location	Histopathology	Intervention	Outcome
Current case	1 day	Macrocephaly	MRI brain	Supratentorial	Immature teratoma	Tumour resection	Dead
Maghrabi et al9	20 days	Macrocephalv, vomiting, poor feeding	MRI brain	Posterior fossa	Immature teratoma	Total resection	Alive
Thrust et al10	11 weeks	Macrocephaly, irritability	MRI brain	Posterior fossa	Teratoma	Incomplete resection	Recurrence
Fukukoka et al7	12 days	Macrocephaly, vomiting	CT brain	Posterior fossa	Immature teratoma	Total resection	Alive
Rios et al11	Antenatal	Incidental finding	3D Cranial USG	Posterior fossa	Immature teratoma	Biopsy	Expired on DOL 24
Ruppa et al12	Birth	Macrocephaly, frontal bossing and large anterior fontanelle	MRI brain	Posterior fossa	Immature teratoma	Resection	Expired
Erman et al13	3 days	Irritability, vomiting, seizures	CT brain and MRI brain	Right parietal region protruding to the fourth ventricle	Immature teratoma	Resection	Expired
Johnston et al14	Birth	Nasopharyngeal mass	MRI	Nasal cavity, intracranial extension to anterior and middle cranial fossa	Immature teratoma	Total excision	Alive
Arslan et al15	5 days	Irritability, left eye protrusion	CT brain and MRI brain	Lateral ventricle with retroorbital extension	Immature teratoma	Excision	Alive
Desai et al16	10 days	Macrocephaly, vomiting, irritability	CT brain	Posterior fossa	Immature teratoma	Total resection	Expired on DOL 27 (POD 7)
Chien et al17	Antenatal	Macrocephaly	USG and fetal MRI	Cerebrum (periventricular and intraventricular)	Immature teratoma	Not treated as parents refused due to poor prognosis	Expired on DOL 1
Hayashi et al18	10 days	Not known	CT brain	Posterior fossa	Immature teratoma	Total resection	Expired on DOL 27
Ventureyra et al19	6 days	Macrocephaly	CT brain	Lateral ventricle	Immature teratoma	Total resection	Alive

CT, Computed tomography; MRI, Magnetic resonance imaging; USG, Ultrasound Sonography.

Case presentation

A term male neonate with normal birth weight was delivered by elective caesarean section to a multigravida mother in her 30s. Antenatal ultrasound done in the third trimester was suggestive of ventriculomegaly, lateral ventricle measuring 18 × 18 mm. The pregnancy was otherwise unremarkable. After birth, the neonate was noted to have macrocephaly (head circumference 37.5 cm, >2 SD) with bulging but pulsatile anterior fontanelle. There were no associated gross congenital anomalies noted.

Investigations

The cranial sonogram was suggestive of an ill-defined mass in the supratentorial region with gross hydrocephalus. Contrast-enhanced MRI of the brain was suggestive of a large heterogenous mass arising from the left ventricle (supratentorial) with intratumoural haemorrhage, flow voids and gross hydrocephalus, most likely to be either teratoma or choroid plexus carcinoma (figure 1).

Figure 1.

(A) T2 sagittal view showing tumour encasing the deep venous system (black arrow), (B) T2 axial view showing flow voids (white arrow) and intratumour haemorrhage (black arrow) with gross hydrocephalus.

Differential diagnosis

A large heterogenous mass arising from the left ventricle with intratumour haemorrhage and flow voids was attributed to either teratoma or choroid plexus carcinoma.

Treatment

Left frontal craniotomy with tumour excision was performed on day 12 of life. Histopathology of the tumour mass was suggestive of immature teratoma (figure 2). Intraoperatively, a massive haemorrhage (venous bleed) led to haemodynamic instability for which a massive transfusion was started and en mass closure of the incision was done. Massive transfusion with packed red blood cells (PRBC), fresh frozen plasma (FFP) and platelets in a 1:1:1 ratio (ie, 20 mL/kg PRBC to 20 mL/kg FFP to 15 mL/kg platelets) was initiated. Intravenous vitamin K and tranexamic acid were given. Ionised calcium and potassium were monitored during the massive transfusion.

Figure 2.

Photomicrograph shows a tumour. (A) Mesodermal components in the form of the cartilage (yellow arrow) and the bone (blue arrow). Endodermal components in the form of colonic mucosa (green arrow). Ectodermal components in the form of squamous epithelium (inset, red arrow). (B) Ectodermal components in the form of retinal pigmented epithelium (inset, white arrow) and immature neuroectodermal elements (green star).

Outcome and follow-up

Despite multiple transfusions, haemodynamic instability persisted for which inotropes were added and increased to maximum doses. The hypotensive shock and severe metabolic acidosis persisted, and he succumbed on day 13 of life.

Discussion

Congenital CNS tumours are rare, and supratentorial tumours are more common in neonates.² Congenital CNS tumours¹ can be either germ cell tumours like teratoma, embryonal tumours like medulloblastoma, gliomas like astrocytoma and glioblastoma or choroid plexus papilloma/carcinoma. Among these, teratoma is the most common tumour accounting for one-third of all cases.³ Clinical presentation includes mass in prenatal ultrasonography, stillbirth, macrocephaly (most common manifestation), hydrocephalus, seizure and vomiting.² MRI is the investigation of choice. Teratoma of the brain is commonly located at the supratentorial region and has a heterogeneous signal intensity on T1-weighted and T2-weighted images.⁴ In our case, the baby presented with macrocephaly. On imaging, the tumour location was supratentorial, and it was a heterogenous mass pointing towards teratoma which was confirmed later by histopathology. Treating neonatal brain tumours consists of two aspects: surgical resection and adjuvant chemotherapy. Radiotherapy is associated with long-term side effects in neonates like developmental retardation, neuro-endocrine abnormalities, the risk of secondary neoplasms in the CNS and premature death.⁴

Blood loss is the major hurdle of open surgery in neonatal brain tumours, particularly for large tumours. It is due to the vascularity of the tumour due to its rapid growth and location that is similar to that of our case where the deep venous system was encased by the tumour mass.⁵ The poor prognosis in neonates is due to subtotal resection (secondary to the blood loss and mass location), high-grade tumour histology and avoidance of radiotherapy.⁴ Neoadjuvant chemotherapy followed by surgical resection is shown to decrease the tumour vascularity and size, facilitating total resection of the tumour.⁶ Kithara et al and Fukuoka et al reported the use of neoadjuvant chemotherapy (chemotherapy-carboplatin and etoposide, CARE) facilitated total resection of the tumour.^{6 7} The use of preoperative or postoperative radiotherapy is not considered below 3 years due to long-term neurological side effects.⁸ Maghrabi et al reported the use of postoperative adjuvant chemotherapy improved long-term survival.⁹

Learning points.

• Antenatal diagnosis of congenital brain tumours by ultrasound scanning and fetal MRI is crucial to determine the prognosis and postnatal management.

• The major hurdle in the treatment of immature teratoma is intraoperative bleeding.

• Intraoperative bleeding may be minimised by neoadjuvant chemotherapy.

• Meticulous planning and monitoring are needed whenever a massive transfusion is anticipated.

Ethics statements

Patient consent for publication

Consent obtained from parent(s)/guardian(s).