Teratomas are embryonal tumours composed of diverse tissues from three germinal layers with variable levels of maturity. The authors report a female patient with a large immature epignathus. Prenatal diagnosis permitted a caesarean section and tracheotomy to be planned under ex utero intrapartum treatment for airway obstruction. The tumour was successfully controlled, even though it was impossible to distinguish from normal tissue because it lacked a pedicle and capsule, using multidisciplinary therapy, including a series of surgical treatments and adjuvant chemotherapy. This case suggested that the level of serum alpha fetoprotein might be a useful indicator after surgery. At present, after 4 years, no regrowth has been observed and the patient has no problems with respiration or swallowing.
A 23-year-old healthy woman was referred with abnormal foetal findings. A large mass measuring 10 cm, extruding from the oral cavity, was seen on embryo MRI studies ( Fig. 1 ). The tumour arose from the sphenoid bone region, and airway obstruction was a concern, so life-saving care was scheduled under ex utero intrapartum treatment (EXIT), in which an infant is removed from the uterus, but the umbilical cord is not cut until after surgery. A female neonate, weighing 1196 g, was delivered by caesarean section at 28 weeks and 5 days of gestation. A giant irregular mass protruded from her mouth and nose ( Fig. 2 ), causing severe respiratory distress. A tracheotomy was performed immediately under EXIT. The infant had no complications other than airway obstruction.
On day 2 after birth, the large size of the tumour, which contained a significant volume of neonate blood, only allowed the paediatric surgeons to perform haemostasis and partial excision. The extraoral and nasal parts of the mass, weighing 246 g, were excised with careful suturing and cautery. The pedicle could not be seen clearly, so as much of the tumour as possible was removed from the roof of the mouth. This palliative operation resulted in a reduction of the patient’s weight to 950 g. An endotracheal tube was still required for respiratory care.
Six days after birth, a neonatal specialist consulted the authors’ division concerning management of the obstructive oral mass. The patient’s mid-facial area was swollen. The tumour caused the eyeballs to be situated laterally, the left nasal cavity to be expanded, the right nasal cavity to be compressed and the temporomandibular joint to be dislocated. The mass was dark red, firm, haemorrhagic, with partial necrosis, and totally enveloped the widely clefted palate and left nasal cavity. MRI demonstrated that the tumour filled her left nasal, oral, and nasopharyngeal areas, and extended to her left infratemporal fossa. CT detected hypoplasia of her front-middle cranial base area, but not the bilateral cranial nerves or carotid arteries. The sinus sphenoidalis, vomer bone, and a fraction of the sphenoidale clivus were disrupted ( Fig. 3 ).
On day 49 after birth, the authors attempted to resect this huge tumour. The mass was attached to the hard and soft palate. The palatal mass was excised and revealed a reddish cystic lesion protruding from the sphenoid bone region. No obvious communication region was found between the intracranial area and the tumour. This lesion was resected at its base with caution. No cerebrospinal fluid leakage occurred from the excision site. A haemostatic bandage was placed over the tumour. Postoperatively, the respiratory disorder improved. The patient’s endotracheal tube was removed on day 72 after birth and she was discharged.
Follow-up MRI imaging studies obtained when the girl was 3 months of age demonstrated that the residual tumour in the sphenoid bone region had increased in size, inducing dysphagia, respiratory problems and pulmonary atelectasis. The fragile and edematous tumour was removed from the 3252 g patient 4 months after birth. The pedicle and capsule were not discerned, but adequate intensive dura of normal colour was observed at the resection margins ( Fig. 4 ). Cerebrospinal fluid leakage was not observed.
Six months after birth, the authors detected a small regrowth at the excision site. The tumour was partly covered with the common epithelial membrane, and was indistinguishable from normal tissue.
Postoperative course and additional treatment
A series of alpha fetoprotein (AFP) tumour markers is an important test in the context of a post-treatment tumour. Although AFP declined after performance of the four surgical treatments, it remained at 101.0 ng/ml, which is 10 times higher than normal. The following chemotherapy, including bleomycin, etoposide, cisplatin (BEP) and vinblastine, dactinomycin, cyclophosphamide (VAC), was carried out three times following the fourth debulking operation. The level of AFP then markedly decreased to a negative level after a sequence of multifaceted therapeutic approaches ( Fig. 5 ).