Malignant epignathus teratoma
1 Department of Biomedical Imaging, Faculty of
Medicine, University of Malaya, Kuala Lumpur, Malaysia
2 Department of Surgery, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia
A baby boy who had a left facial mass detected on
antenatal ultrasound was delivered by Caesarian section after foetal distress
was detected. Imaging investigations by plain radiographs and MRI showed a
large mass with calcifications, soft tissue, fat and fluid components. A total
surgical excision was perfomed and histology examination showed teratoma with
no malignant features. Two weeks postoperatively, there was rapid recurrence of
the tumour with intracranial involvement and obstructive hydrocephalus shown on
MRI. The tumour was inoperable at surgery and the baby subsequently died at 5
weeks of life. This case describes the clinical course and imaging features of
a neonatal epignathus teratoma with malignant and aggressive features. � 2008
Biomedical Imaging and Intervention Journal. All rights reserved.
Keywords: Epignathus teratoma, imaging features
Head and neck teratomas are rare congenital tumours,
usually benign in nature. They are usually of enormous size and commonly cause
respiratory compromise to the upper airway. The term �epignathus tumour� refers
to teratomas of the oropharyngeal cavity in neonates without specifying the
site of origin . Epignathus tumours are extremely rare head and neck
teratomas, which are not known to be malignant but have the potential to extend
into the cranium and involve the brain . This case study describes a case of
a large epignathus teratoma with malignant and aggressive features clinically
and on imaging. There were high levels of serum α-fetoprotein (AFP) and
β -human chorionic gonadotropin (β hCG), and an MRI demonstrated
rapid recurrence of the tumour after resection.
A baby boy was born to a 32-year-old primigravida at 34
weeks gestation. Antenatal ultrasound done at 28 weeks detected polyhydramnios
and foetal anomaly, where a huge mass of mixed cystic and solid echogenicity was
detected arising from the left side of his face, measuring more than 10 cm in
its maximum dimension. The baby was born by Caesarian section after foetal
distress was detected. He developed respiratory distress at birth which
required intubation and assisted ventilation.
Physical examination revealed a large spherical mass at
the left cheek measuring approximately 8 cm x 10 cm in size. There was significant
displacement of his mouth to the right, his nose superiorly and his left eye
superolaterally, due to the sheer size of the mass (Figure 1). The overlying
skin appeared healthy, with no ulceration or discolouration. On superficial
palpation, the mass had a mixed soft to hard consistency. There was a
haemangioma measuring 3 cm x 1 cm in size over his right nipple. Further
examination showed that the other systems were normal. Maturity scoring of the
baby was appropriate for age. The differential diagnoses from physical
examination included teratoma, primitive neuroectodermal tumour (PNET) and
Haemoglobin, white blood cell count and platelets were
normal. Serum α-fetoprotein (AFP) measured 56852 IU (normal 0-8 IU) and
β-human chorionic gonadotropin (β hCG) 14 IU (normal <10 mIU). The
high levels were in keeping with a teratoma. A plain radiograph of the face and
skull showed a wide opened oral cavity, poorly developed left temporomandibular
joint and calcifications within the large soft tissue density mass (Figure 2).
On MRI, there was a large and lobulated tumour that demonstrated mixed signal
intensities in keeping with fluid, fat and soft tissue components on both T1
and T2 weighted sequences. The left globe of the eye was displaced superiorly.
The internal portion of the tumour effaced all normal anatomy whereby the left
side of the oral cavity, oropharynx, nasopharynx, palate and left
temporomandibular area had no clear margins from the tumour. There was
extension of the tumour into the left temporal fossa (Figure 3).
Surgery on day 7 of life revealed findings which largely
corresponded to findings on MRI. The tumour extended from the left
temporomandibular joint to the nasal septum. It occupied the oropharynx and
nasopharynx, caused elevation of the buccal mucosa and upper airway
obstruction. There was extension superiorly into the base of the skull and
inferiorly into the oral cavity, displacing the left mandible, as well as
posteriorly to the lesser wing of the sphenoid where there was a defect covered
by a thin membrane. The condyle and coronoid process of the left mandible were
not well developed and no articulation existed between the left mandibular
condyle and the temporal bone. The tumour was removed en-bloc with minimal difficulty
and the cavity packed with surgicel and gelfoam. A skin flap was raised via
circumferential dissection to cover the incision site over the left side of the
Cut section of the tumour showed multi-loculated cysts
containing serous fluid and solid areas. Histopathology revealed tumour tissue
consisting of a haphazard mixture of organoid mature tissue composed of skin
adnexal tissue and microtubular structures. Calcifications and cysts lined by
stratified squamous epithelium with rosettes were identified in one area of the
section. These features were in keeping with a teratoma with immature neural
elements. No mitotic or undifferentiated elements were seen (Figure 4).
Post-operatively, there was a significant decrease in
serum α-fetoprotein to 4408 IU/ml. However, the left side of the face
became increasingly swollen and there was difficulty extubating the baby
despite clearance of tumour from the airway at surgery. A repeat MRI and CT
scan done 2 weeks after surgery showed a mass of solid and cystic nature
occupying the oral cavity with extension into the left temporal fossa. It
showed avid enhancement with contrast and it extended posteriorly compressing
the brain stem and causing obstructive hydrocephalus (Figure 5). The
endotracheal tube was displaced to the right side by the mass. The baby
underwent another surgery. It showed recurrence of tumour in the oral cavity
and oropharynx with extension into the left temporal fossa through the
membranous covering. There was no further attempt to excise the tumour. A
tracheostomy and external ventricular drainage was planned, but the baby
succumbed 3 weeks later.
In Greek, teratoma means �monsterous tumour�. It is a tumour
composed of multiple tissues foreign to the normal organ in which it arises.
These tissues contain all three primordial germ cell layers (ectoderm, mesoderm
and endoderm) [1, 2, 3, 4] and histologically they may be mature, immature or
malignant. Teratomas occur with an incidence of 1:4000 live births . They
may arise from different sites of the body; the most common site in the newborn
is the sacrococcygeal region, accounting for nearly 40% of the total cases .
Other sites include the gonads, head and neck, mediastinum, retroperitoneum,
brain, spinal cord and liver. Less than 5% occur in the head and neck. Facial
involvement occurs in 1.6% . Epignathus are teratomas arising from the soft
or hard palate in the region of the Rathkes pouch or in the nasopharynx in the
region of the basisphenoid, tongue, sinuses, mandible or tonsil. Development
may be from the midline or lateral to midline . When large, they fill the
oral cavity and can protrude externally, distort facial anatomy and often cause
respiratory embarrassment at birth. Malignant degeneration of teratomas is
estimated to be between 5% and 30% . Malignant epignathus teratomas are rare
and there have been no recent reports of it. After complete excision, these
tumours do not recur. Serial measurement of serum α-fetoprotein (AFP) is
necessary as failure of the expected gradual fall of this marker
postoperatively may indicate the existence of residual malignant elements or
development of metastasis. In malignant teratomas, AFP levels are drastically
raised and β-human chorionic gonadotropin (β hCG) may occasionally be
secreted . Both markers were significantly raised in our patient, suggesting
a malignant teratoma. The histopathology did not reveal any malignant features
although immature neural elements were present. Overall, neuroectodermal
elements (both mature and immature) frequently dominate in childhood teratomas
and are found more commonly in teratomas of the head and neck region. Childhood
teratomas with neuroectodermal elements may be confused with PNETs at
histologic examination if there is inadequate tissue sampling. More
importantly, the presence of some immature neural tissue associated with a
teratoma in a young child does not reduce the prognosis.
Teratomas can be detected early with antenatal ultrasound.
MRI has the advantage of not utilising ionising radiation and antenatal MRI
diagnosis of teratoma in the foetus has been described [4, 6]. Ultrafast MRI
techniques for antenatal diagnosis and characterisation of cervicofacial masses
using echo-planar imaging and half-fourier single-shot turbospin-echo sequences
to minimise foetal motion and breathing artifacts has been described by Kenneth
W. Liechty et al. . This may be a useful modality for diagnosis once the
mass is revealed by antenatal ultrasound examination. In the neonatal period,
both CT and MRI have been descibed as useful for complete assessment of the
tumour, to determine its relationship to surrounding structures, its extension
and any complications caused by the tumour [3, 4]. In institutions with access
to MR imaging, this modality may add more information with regard to diagnosis
and presurgical assessment than CT is able to provide. MRI enables
characterisation of the components of the teratoma. The high fat content of
teratomas is the cause of their strong signal on T1-weighted images and allows
their differentiation from cystic hygromas, which are less intense on T1-
weighted images but become more intense on T2-weighted images . The first
preoperative MRI scan in this case proved invaluable in diagnosis and
preoperative assessment of the teratoma. The second MRI scan showed rapid and
aggressive recurrence of tumour as well as complication of its extension and
compression of vital structures. However, MRI has the disadvantage of requiring
long scanning time. As CT scanning better demonstrates bony defects, this
modality may be needed as an adjunct to MRI in cases in which intracranial
communication is suspected but not demonstrated on MRI . Advantage of CT is
that it provides rapid assessment and fast multiplanar reconstruction, enabling
accurate assessment of bone involvement. It also establishes the presence of
calcifications, which are present in 50% of teratomas . In our case, plain
radiography of the head revealed calcifications in the tumour.
Epignathi involving and destroying brain tissue has been
described and is associated with poor prognosis . Exclusion of intracranial
extension is an important part of preoperative management. An intracranial
extension must be suspected in the event of sphenoid dehiscence . In this
case, intracranial extension was evident on the first MRI. The components of
the left temporomandibular joint were not identified on imaging.
Intra-operative findings revealed a defect of the lesser wing of sphenoid that
was covered with a membrane and absence of articulation between a poorly
developed left mandibular condyle and the temporal bone.
Mortality rate associated with large teratomas in the head
and neck are generally high in the absence of a well-prepared resuscitation
team or meticulous delivery planning to secure the airway, as the majority of
these teratomas are associated with obstruction of airway and difficulty in
intubation. In the patient described here, marked distortion of facial anatomy
with involvement of the nasopharynx and oropharynx as well as extension into
the posterior pharynx led to initial respiratory distress. Subsequently, brain
stem compression by recurrent tumour accounted for respiratory difficulties.
Ninety percent of neonatal teratomas are benign and
treatment is primarily by surgical removal . In the absence of intracranial
extension, radical treatment of epignathus teratoma consists of early and
complete surgical resection. These tumours are generally encapsulated or
pseudoencapsulated and complete resection can be achieved without sacrifice of
any vital structures despite alarming appearances on imaging . In our case,
the tumour was easily removed despite its large size and effacement of anatomy
of the base of skull structures. However, due to its rapid recurrence and
aggressive nature, it is likely that this was a rare case of malignant
In conclusion, we describe a rare case of epignathus
teratoma showing malignant features clinically and on imaging. The case proved
to be a great challenge for all disciplines involved in management of the baby.
Figure 1 Photograph of the baby immediately after delivery showing a large left facial mass distorting the external facial anatomy with displacement of the nose and left eye.
Figure 2 Plain radiograph of the head showing a large soft tissue mass protruding from the anterior aspect of the face with calcifications within it. Note the under-developed left temporomandibular joint (black arrow).
Figure 3 MR images: (a) T2 weighted ( TR 4500, TE 94) sequence in coronal plane showing the external portion of the tumour consisting of lobulated well defined areas of fluid, solid tissue and fat, in keeping with teratoma. There is involvement of the left temporal lobe of the brain (red arrow); (b) T1 weighted (TR 9.7, TE 4.1) contrast enhanced sequence in sagittal plane. Internally, the tumour is occupying the oropharynx, nasopharynx and oral cavity, effacing normal anatomy (red arrows).
Figure 4 Histopathology of the tumour tissue consisting of a haphazard mixture of organoid mature tissue: (a) skin adnexal tissue (Haematoxylin-eosin (HE) stain, x 10); (b) adipose cells (black arrow) and cysts lined by stratified squamous epithelium (red arrow) (HE stain, x 4); (c) primitive neuroepithelial cells arranged as rosettes (red arrows) (HE stain, x20).
Figure 5 MR images two weeks after removal of the teratoma: (a) T2 weighted (TR 4500, TE 94) in coronal plane; and (b) T1-weighted (TR 9.7, TE 4.1) contrast-enhanced sequence in sagittal plane, showing recurrence. Tumour is seen occupying the oral cavity with extension into the left temporal fossa (black arrow) and brain stem compression (white arrow). There is evidence of moderate hydrocephalus.
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|Received 11 December 2007; received in revised form 14
February 2008; accepted 28 February 2008
Correspondence: Department of Biomedical Imaging, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia. Tel.: +603-79492069; Fax: +603-79581973; E-mail: firstname.lastname@example.org (Sazilah Ahmad Sarji).
Please cite as: Too SC, Ahmad Sarji S, Yik YI, Ramanujam TM,
Malignant epignathus teratoma, Biomed Imaging Interv J 2008; 4(2):e18