Teratoma oral: la importancia del diagnóstico prenatal y el trabajo interdisciplinario: un caso clínico / Epignathus, the importance of prenatal diagnosis and interdisciplinary work: A case report

Gracias al avance de la tecnología, es posible realizar el diagnóstico prenatal de distintas malformaciones congénitas que ponen en riesgo la vida del recién nacido. Entre estas, el teratoma oral o epignathus es una forma poco frecuente de teratoma congénito entre los que se localizan en cabeza y cuello. Suelen ser benignos y abarcan el 4 % de los teratomas neonatales.A partir del desarrollo de la técnica de tratamiento intraparto extraútero (EXIT, por su sigla en inglés), que se implementó en los años 90 para mantener la circulación fetal hasta asegurar la vía aérea del recién nacido, se logra planificar una estrategia de manejo multidisciplinario que permite el abordaje correcto de estas patologías. Se presenta un caso de teratoma oral gigante en una paciente de sexo femenino de 35 semanas de gestación, en quien se aplicó la técnica EXIT, y su evolución posterior.

Thanks to technological advances, it has been possible to carry out the prenatal diagnosis of different life-threatening congenital malformations. Among these, oral teratoma, or epignathus, is a rare form of congenital teratoma within those located in the head and neck. They are generally benign and comprise 4 % of neonatal teratomas. From the development of the EXIT technique (ex utero intrapartum treatment), which has been implemented since the 90's to support fetal circulation until the newborn's airway is secured, it is possible to plan a multidisciplinary management strategy that enables the correct approach of these pathologies.We present a case of giant epignathus in a 35-week gestation female patient, whose airway was secured using the EXIT technique, and follow up.

Giant Epignathus Teratoma Discovered at Birth: A Case Report and 7-Year Follow-Up

Abstract Teratomas are tumors composed by tissues derived from the three germ cell layers, and they are relatively uncommon in head and neck. The term epignathus has been applied to teratomas from the oropharynx. This paper reports the case of a giant epignathus teratoma discovered at birth, which was successfully managed and followed up for 7 years. A newborn boy presented a polypoid tumor mass exteriorizing through the mouth over a length of 9 cm, with some surface areas resembling skin and others exhibiting hair. Computed tomography showed that the mass arose deep from the left hemiface. Alpha-fetoprotein (AFP) levels were high (316,000 ng/mL). Surgery was performed and microscopic analysis confirmed the diagnosis of mature teratoma. Because of residual tumor and high AFP levels, the patient was submitted to chemotherapy, resulting in complete regression of the lesion and normalization of AFP levels. Surgical repair of a cleft palate was performed at 5 years of age. At 7 years of age, the patient was in good general health and showed no clinical signs of recurrence. Although epignathus is a rare condition, it should be diagnosed in the fetus as early as possible. Prenatal care provides unquestionable benefits, providing the early diagnosis of anomalies that can jeopardize the life of the fetus and contributing to the indication of cases that require treatment before birth.

Resumo Teratomas são tumores constituídos por tecidos derivados das três camadas de células germinativas e são relativamente incomuns em cabeça e pescoço. O termo epignathus tem sido utilizado para designar teratomas que se originam na orofaringe. Este artigo relata o caso de um teratoma epignathus gigante descoberto ao nascimento, o qual foi tratado com sucesso e proservado por 7 anos. Um menino recém-nascido apresentou uma massa tumoral polipoide que se exteriorizava através da boca por uma extensão de 9 cm, com regiões da superfície semelhantes à pele e outras exibindo pelos. Exame de tomografia computadorizada revelou que a massa se originava profundamente na hemiface esquerda. Os níveis de alfa-fetoproteína (AFP) se apresentavam elevados (316.000 ng/mL). Foi realizada cirurgia e a análise microscópica confirmou o diagnóstico de teratoma maduro. Por apresentar lesão residual e altos níveis de AFP, o paciente foi submetido à quimioterapia, resultando em regressão completa da lesão e normalização dos níveis de AFP. Correção cirúrgica de uma fenda palatina foi realizada aos 5 anos de idade. Aos 7 anos de idade, o paciente apresentava um bom estado de saúde geral, sem sinais clínicos de recorrência da lesão. Embora o epignathus seja uma condição rara, seu diagnóstico no feto deve ser realizado o mais precocemente possível. O cuidado pré-natal proporciona benefícios inquestionáveis, permitindo o diagnóstico precoce de anomalias que podem comprometer a vida do feto e contribuindo para a indicação de casos que requerem tratamento antes do nascimento.

Prenatal diagnosis of epignathus with multiple malformations in one fetus of a twin pregnancy using three-dimensional ultrasonography and magnetic resonance imaging

Epignathus is an extremely rare type of congenital teratoma arising in the oral cavity. Although it is a benign tumor, it is associated with high mortality and morbidity rates because of severe airway obstruction and other malformations. We present a case of epignathus affecting one fetus in a twin pregnancy. The tumor was associated with multiple congenital malformations including cleft palate, bifid tongue, bifid uvula, congenital heart defect, and bilateral inguinal hernias. The diagnostic value of three-dimensional ultrasonography and magnetic resonance imaging was explored with respect to antenatal counseling and peripartum management.

A case of epignathus tumor causing obstruction of upper airway immediately after birth / 대한주산의학회잡지

Teratoma originate from one or more germ cell layer and commonly arise from sacrococcygeal area in neonate. Teratoma arising from the oropharyngeal cavity is called "epignathus tumor" and is extremely rare in neonate. Clinical manifestation of epignathus tumor vary from asymptomatic to severe respiratory distress symptom. It is reported that most of the tumor are benign in nature. Large teratoma can be diagnosed by prenatal ultrasonography, but most cases were diagnosed with computed tomography or magnetic resonance image after birth. Prognosis is determined by the need for neonatal resuscitation for respiratory distress at the time of birth and the extent of tumor, involving large vessles, skull base or communication with the brain. We experienced a case of epignathus tumor in a neonate with severe respiratory distress immediately after birth, so that reported with review of the literature.

Malignant epignathus teratoma

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.