438 Journal of the College of Physicians and Surgeons Pakistan 2016, Vol. 26 (5): 438-440
INTRODUCTION
Epignathus tumour is an extremely rare type of
congenital teratoma arising from the oral cavity. It
causes severe airway obstruction and is, therefore,
associated with high neonatal mortality.
1
It is associated
with polyhydramnios and elevated serum alpha
fetoprotein levels. Accurate prenatal diagnosis is of great
value for counselling and appropriate management,
including EXIT procedure, where appropriate.
2
We present a case of stillborn baby with epignathus and
polyhydramnios.
CASE REPORT
A 28-year-old woman presented in emergency, with
history of gestational amenorrhoea of approximately 5
months. She had labour pains and leaking for the past 5
hours. She was gravida 2 and para 1. The previous
pregnancy was full term and a healthy baby boy was
delivered by normal spontaneous delivery. She had no
previous antenatal checkups during the present
pregnancy. She did not have any significant medical or
surgical history. She gave history of fever during the 4th
month of her pregnancy, for which she took some
medicines; however, she could not recall their names.
Otherwise her pregnancy was unremarkable.
On examination, she was 26 weeks pregnant and was in
advanced 1st stage of labour. Her blood pressure, pulse
and temperature were within normal limits. Emergency
ultrasound showed an alive, active foetus with unstable
presentation. Biometry showed an estimated gestational
age of 26 weeks and 5 days. There was a large mass
measuring 10 x 10 cm anterior to the foetal neck. It had
well defined lobulated margins and a heterogeneous
echotexture containing hyper echoic as well as large
anechoic, cystic areas. There was no lateral or posterior
extension of the mass. The foetal spine was normal.
There were no signs of foetal hydrops. No additional
structural abnormality was identified. The liquor was,
however, grossly increased.
The patient was treated after maintaining intravenous
line by ringolactate infusion. She was given antibiotics
and analgesics. She spontaneously expelled a fresh
CASE REPORT
Epignathus Teratoma
Rabia Akhtar
1
, Mamoona Riffat
2
and Zainab Mehmood
2
ABSTRACT
An epignathus is an extremely rare form of oropharyngeal teratoma that arises from the oral cavity, most commonly from
the palate and is associated with a high mortality, secondary to airway obstruction in the neonatal period. We present a
case of epignathus, diagnosed on antenatal ultrasound as teratoma. It was associated with polyhydramnios. The mother
had presented with preterm labour at 27 weeks of gestation. A stillborn baby girl with a large epignathus was expelled
spontaneously 2 hours after admission. Accurate prenatal diagnosis of the condition can be done by prenatal ultrasound
including colour Doppler ultrasound, three dimensional ultrasound and MRI. The patient can be managed by EXIT
(
ex utero intrapartum treatment) procedure immediately after birth. Alternatively, the airway can be secured initially and a
more complicated surgery can be undertaken once the patient is stable. Foetal surgery is another theoretical possibility.
Key Words: Epignathus. Prenatal ultrasound. MRI. EXIT procedure. Fetal surgery.
Department of Radiology
1
/ Obstetrics and Gynaecology
2
,
Mamoona Riffat Clinic and Maternity Home, Nowshera Cantt.
Correspondence: Dr. Rabia Akhtar, H. No. 4, Michini Road,
Peshawar Cantt.
E-mail: rabia1096@yahoo.com
Received: October 03, 2014; Accepted: October 12, 2015.
Figure 1 (a,b): Stillborn baby with a large mass protruding out of the wide
open mouth.
stillborn female baby in the second stage of labour, 2
hours after admission. The mass visualized on
ultrasound was seen coming out of the baby's mouth,
which was wide open due to the mass (Figure 1). The
mass was attached via a 3-cm long stalk superiorly at
the junction of the soft and hard palate. The baby was
otherwise normal. The mass was friable and bled to
touch. It had mixed solid and cystic areas on gross
examination of the cut section. The baby and the mass
together weighed 2.8 kgs. The mass was 900 g in
weight. Histopathology of the mass showed that the
outer wall was composed of skin appendages and
neural tissue. The cystic spaces were lined by columnar
cells. The intervening areas were occupied by fibrofatty
tissue. There was no evidence of malignant cells.
Mature teratoma was thus diagnosed.
DISCUSSION
Congenital teratomas are rare tumours with an
incidence of 2.5:10000 live births.
1
Epignathus is a rare
oropharyngeal teratoma arising from upper jaw, palate,
and sphenoid bone. It has an incidence ranging
between 1:35000-200000 live births. It shows a female
predominance. Its mortality ranges from 80% to 100%.
3
The child in our case was a stillborn female.
Jordan and Gauderer proposed a classification of
cervical teratomas based on birth status, age at
diagnosis, and the presence or absence of respiratory
distress.
4
This patient fell into Group I, according to this
classification.
Epignathus may occur as an isolated abnormality or
associated with other congenital abnormalities like cleft
palate (commonest), bifid tongue and nose, and Pierre
Robin syndrome (cleft palate, glossoptosis and micro-
retrognathia).
3
Association with meningo-encephalocele
has also been described.
2
Duplication of cranial base,
mandible and pituitary gland have also been noted with
it.
5
This case was not associated with any additional
malformation. These tumours are almost always benign.
Too et al. however, reported a case of malignant
epignathus teratoma.
6
Some elements of these tumours
may become malignant after incomplete removal.
2
Benign mature teratoma was diagnosed on the
histopathological examination of the resected tumour in
this case. Epignathus occurs more frequently in young
mothers. In this case, the mother was 28 years of age.
These lesions are non-familial. The tumour is usually
associated with polyhydramnios, secondary to swallowing
difficulty. Placental oedema may be associated with it
because of foetal cardiac decompensation, secondary to
extensive vascularisation of the tumour. Pre-eclampsia
has also been described with it. Maternal serum alpha
fetoprotein levels are always elevated in this condition.
Most cases of epignathus arise from the sphenoid bone.
Some arise from the hard and soft palates (as seen in
this case), the pharynx, the tongue, and the jaw. From
the site of origin, the tumour grows into the oral or nasal
cavity or intracranially. It can lead to death soon after
birth due to severe airway obstruction.
2
On prenatal ultrasound, the presence of a mass related
to the foetal mouth showing mixed echotexture with soft
tissue echogenicity, cystic components, and calcification,
associated with polyhydramnios, suggest the most
possible diagnosis of epignathus.
1
Use of 3 dimensional
ultrasound can further confirm the relation of the mass
with the foetal mouth.
7
Kaido et al. have described the
use of colour Doppler ultrasound to assess the tumour
vascularity. They suggested that a hypovascular tumour
is associated with favourable prognosis, decreasing in
size naturally in the prenatal period.
8
After the initial
diagnosis, ultrasound and MRI can be used to assess
the relationship of tumour with the surrounding
structures, its extension, and any complications caused
by it.
3,8
When the epignathus is not associated with additional
congenital anomalies, the patient can be operated on
placental support (OOPS procedure). The delivery is
planned with the cooperation of obstetricians and
surgeons. The baby is delivered by caesarean section
with immediate ablation of the tumour using EXIT
technique (ex utero intrapartum treatment). The uterus is
kept relaxed with the intact uteroplacental flow. The
foetus is supplied by oxygen via umbilical cord until the
tumour is removed.
2
Alternatively, especially if there is suspicion of
intracranial extension of the tumour or associated
primary lesions of the central nervous system on the
antenatal investigations, after delivering the baby by
caesarean section, the umbilical cord and the
foetoplacental circulation are left intact to allow
oxygenation of the foetus until a rapid examination and
endotracheal intubation or tracheostomy is done, as
necessary. After securing the airway, the umbilical cord
is clamped and the baby is transferred to the neonatal
intensive care unit. The surgery can be done
subsequently once the baby is stable. The diagnosis can
then be further confirmed by plain X-rays and CT scan.
Radical disfiguring surgery is contraindicated in the
neonate as it may result in the impairment of speech and
deglutition.
2
A purely endoscopic transpalatal endonasal
approach can be used as an alternative to the
conventional transfacial approach.
3
Foetal surgical removal of the tumour is another possible
treatment option. Although it has not been reported for
treating the epignathus, it has been successfully used
for the treatment of sacrococcygeal teratoma in addition
to other congenital defects, like diaphragmatic hernia.
9
Open as well as minimal access techniques of foetal
surgery can reduce pre- and postnatal mortality in
patients with this tumour. However, further studies are
Epignathus teratoma
Journal of the College of Physicians and Surgeons Pakistan 2016, Vol. 26 (5): 438-440
439
Rabia Akhtar, Mamoona Riffat and Zainab Mehmood
440 Journal of the College of Physicians and Surgeons Pakistan 2016, Vol. 26 (5): 438-440
required to determine their role in the patients with
epignathus teratoma.
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