Address correspondence to: Luc De Catte, MD, Academic Hospital, Dept. of Obstetrics and Gynecology, Free University of Brussels, Laarbeeklaan 101, 1090 Brussels, Belgium. Ph: 32-2-477-6531; Fax: 32-2-477-6505 Pediatric Surgery, Pathology, Neonatology

Synonyms: Cervical teratoma, thyroid teratoma.

Definition: Tumors derived from all three cell layer types.

Prevalence: Extremely rare (165 perinatal cases).

Etiology: Sporadic in the non-gonadal locations.

Pathogenesis: Arises most likely from the embryonic thyroid anlage, although clear association with the thyroid gland at autopsy is often lacking.

Associated anomalies: Associated anomalies are rare; the following have been reported once each: imperforate anus, chondrodystrophia fetalis, hypoplastic left ventricle with pulmonary hypoplasia, cystic fibrosis, metastasis (Table 1).

Complications: Polyhydramnios, trachea, mandible, cervical vessels and hypoglossal nerve compression.

Differential diagnosis: Cystic hygroma, goiter and hemangioma.

Prognosis: Depends on the size of the tumor and the tracheal compression. Malignant degeneration and recurrence are exceptional.

Recurrence risk: None.

Management: Adequate ventilatory support and surgical excission as soon as possible.

MESH Teratoma BDE 2919 ICD9 238.1 CDC 238.020

Introduction

Congenital teratomas of the neck are rare neoplasms that account for less than 0.1% of all tumors observed in children1. They usually present as huge, semisolid cervical masses with benign histological characteristics1,2. Mortality, however, is very high because of immediate neonatal respiratory distress due to tracheal compression3,4.

Prenatal ultrasonography might permit precise identification of cervical teratomas and differentiation from other neck masses5,6. Estimation of the degree of tracheal compression or distortion allows multidisciplinary planning for delivery and neonatal resuscitation3,4.

Since the first sonographic diagnosis of a teratoma of the neck in 19877, only a few more cases of in utero diagnosis have been presented2-3,8-10. This case report adds more information about the sonographic characteristics of these cervical teratomas and stresses the danger of nasotracheal intubation over a guide.

Case report

A 27-year-old G1P0 woman was referred for a Level III ultrasound scan at 29 weeks of gestation. Until the 25th week, her pregnancy evolved uneventfully. A routine ultrasound examination at this gestational age revealed a normal fetal biometry, slightly increased amniotic fluid, and a tumoral process at the fetal neck region.

The ultrasound examination at 29 weeks showed a huge heterogeneous cervical mass measuring 90 x 55 x 70mm, causing a deviation of the fetal neck (fig. 1).

Sonographic views. First image: longitudinal view of the mass and its relationship with the head and chest. Second image:
close-up view demonstrating the heterogenicity of the mass.

This tumor was anterior to the larynx and reached from the mandibular floor to the upper rim of the sternum. The lateral margins extended beyond the anatomical border of the sternocleidomastoid muscle. Numerous small echogenic reflections were scattered throughout this partially solid, partially multicystic tumor.

A posterior deviation of the carotid arteries and jugular veins was observed bilaterally. However, normal Doppler flow frequencies were noticed in each of these vessels. A sagittal cervical scan indicated laryngeal and tracheal compression and distortion due to the large overlying tumor. A moderate oligohydramnios was present by 30 weeks of gestation (fig. 1).

No associated congenital malformations were observed. Absence of color flow and pulsed Doppler frequencies in this neoplasm excluded the diagnosis of hemangioma. The diagnosis of cervical teratoma was made. Fetal blood sampling excluded a chromosomal disorder (46 XX). The fetal hematological data were normal except for a significantly increased percentage in erythroblast count of 17% (normal range: 4.5 2.8%)11. The fetoprotein concentration in the fetal serum, the amniotic fluid and the maternal serum were, respectively, 359,600 KiloUnits per Liter (KU/L), 708 KU/L and 303 KU/L (normal median, respectively: 311,430 KU/L, 550 KU/L, 200 KU/L). The maternal serum TSH level was in the upper normal range: 5.1 mUL (normal range: 0.2 - 5.5 mU/L).

At 31 weeks of gestation, after a spontaneous rupture of the membranes, a female baby was delivered by cesarean section weighing 1489g. The Apgar score after 1 minute was 1. Laryngotracheal compression by the tumor caused immediate neonatal respiratory distress. Nasopharyngeal intubation over a guide was carried out, but subsequent ventilation led to insufflation of the cervical mass with fast deterioration of the newborn. The baby died 10 minutes after birth.

Autopsy

At autopsy, a massive anterior and lateral neck mass was present (fig. 2).

Fig. 2: Frontal and lateral views of the neonate.

This mass was well circumscribed and could be easily dissected from the surrounding tissues. It reached in a cranial direction up to the mandibular floor and caudally to the clavicle and the upper rim of the sternum. The largest diameter was 80 mm. Laterally, a compression of the brachial plexus had resulted in a drop hand. At palpation, the tumor contained air as a result of the traumatic perforation of the larynx and the fistulization between the larynx and tumor mass (fig. 3).

Fig. 3: Teratoma after dissection.

This perforation had led also to a pneumomediastinum and collapse of both lungs, which, however, were not hypoplastic. There were no other associated malformations. The cut surface of the tumor showed cystic components and more firm, grayish-white tissue. This material grossly resembled fetal brain. The cyst"s contents were serous or hemorrhagic.

The tumor had a benign and well-differentiated histological appearance. Glial elements resembling brain tissue were the most conspicuous features of the tumor (fig. 4).

Fig. 4: Glial elements resembling brain tissue (light microscope, MGG staining).

A variety of epithelia were present, including mucus-producing epithelium of the gastrointestinal type and ciliated respiratory epithelium. Normal thyroid tissue was observed outside the tumor. Small islets of cartilage were distributed throughout the tumor (fig. 5).

Fig. 5: Small islets of cartilage are distributed throughout the tumor.

Areas of embryonic-like primitive mesenchyme or neuroectodermal tissues were lacking. All other organs had a normal morphological appearance.

Discussion

Definition

Teratomas are benign cystic, semicystic or solid tumors. They are composed of multiple tissues foreign to the part of which they arise, and are derived from all three germ cell layers. Lesions of this kind arising in the anterior and posterior triangles of the neck—excluding those involving the base of the skull and cervical spine— are defined as cervical teratomas^1,2,15. Subclassification of these tumors into thyroid- and cervical teratomas on the basis of either the presence or absence of a normal thyroid gland or their blood supply^2,15, is of no clinical interest and has been abandoned. In nearly all cases of anteriorly originating cervical teratomas, a close relationship with the thyroid gland can be observed¹⁵.

Prevalence

Perinatal neoplasms represent only 2.6% of all tumors observed in children1. Among these perinatal masses, 35% are teratomas, of which 80% are localized at the sacrococcygeal site, causing anatomical and functional distortion of the urogenital and anorectal region1. Cervical teratomas are far much rarer. In a large series of 4257 childhood neoplasms, only 4 teratomas of the neck were recorded, representing an incidence of less than 0.1%. This extreme rarity is reflected in the literature, where, at present, about 165 cases of perinatal cervical teratoma have been reported^5,13 . Moreover, the number of prenatally diagnosed cases is small^3,4,7-14 (Table 1).

Table 1: Review of the literature (highlighted manuscripts represent prenatal diagnoses).

Etiology

The etiology is unknown, and only one report describes the occurrence of a cervical teratoma in siblings, born 10 years apart¹⁵.

Pathogenesis

The constant relationship of the cervical teratoma with the thyroid gland, either by actual replacement of the thyroid tissue, or by involvement by direct continuity, or by intimate attachment of the tumor to the gland"s capsule, makes some investigators state that all teratomas originating in the anterior portion of the neck arise from embryonic cells in the primitive anlage of the thyroid gland. However, because of the extreme rarity of the intrathyroid origin of the cervical teratomas, other authors regard the relationship with the gland as merely fortuitous¹⁵.

Pathology

Histologically, the vast majority of these tumors (68%) are composed of neural tissue. In about 36%, thyroid tissue is found as a part of the tumor, whereas in nearly 15% thyroid is present as a pseudocapsule16. The cystic fluid-filled parts of the tumor are held responsible for the rapid expansion. Malignancy by invasive growth and metastatic spread have been reported in 5 cases^{2,9,11,13,16,17} (Table 1).   However, malignant degeneration could be observed more frequently in teratomas of the neck occurring in teenagers and adults^1,2.

Laboratory tests

Only scanty information on fetal hematological and biochemical parameters is available. A high level of amniotic fluid a level occurred in one case of malignant cervical teratoma⁹. Increased neonatal serum a levels were observed twice in a large benign teratoma of the neck, and in one case of a sacrococcygeal teratoma⁹. The rapidly growing embryonic tissue in the neoplasms may increase these serum a levels, which, in our case, were normal for gestational age. Fetal erythroblast count was significantly raised¹⁸, without deterioration of the other hematological parameters.

Diagnosis

The anterior or anterolateral appearance, the mixed solid-cystic composition and the small echogenic reflections, which indicate the presence of cartilage and/or calcifications, suggest a teratoma.

Differential diagnosis

Differentiation with other cervical masses is often difficult, yet very important (Table 2). Color and pulsed Doppler investigation are both helpful in the differentiation with a hemangioma.Fetal tachycardia, in association with a bilobed solid anterior neck mass, suggests the presence of a fetal goiter, which is confirmed by a raised amniotic fluid TSH level^5,6,18-20.

Table 2: Differential diagnoses

Prognosis and Complications

Despite the fact that most of these tumors are histologically benign, fetal and neonatal outcome are often compromised²¹.The incidence of polyhydramnios, preterm delivery and perinatal death have, respectively, been reported as 25%, 17% and 43%¹³. In very large cervical teratomas (greater than 80 mm in largest diameter), prematurity and dystocia or cesarean section rates increase to more than 50%¹³.

Fetal deglutition impairment is responsible for the associated polyhydramnios. Deviation of the larynx and trachea results in compression of the esophagus and inhibits fetal swallowing²⁰. Teratomas of smaller size (50 mm), in which the contribution of the volume of the mass to the compression is questionable, are also frequently associated with hydramnios. Perhaps hypoglossal nerve compression by the expanding tumor mass may add to the deglutition problem. The polyhydramnion in our case was moderate and slowly increasing, and minute in proportion to the size and compression exerted by the tumor.

Management

The anterior localization and the semi-solid appearance of these tumors can provoke an upper airway obstruction, which is the most urgent neonatal emergency, requiring immediate intervention. When anticipated by ultrasound, the necessary equipment can be mobilized at the time of the cesarean section to deal with these respiratory difficulties^3,4,16. The use of a laryngoscope and a McGill forceps and/or a guide wire by an experienced neonatologist may not always overcome the intubation problem, as shown in our case report. Extreme compression and deviation of the trachea may need bronchoscopic exploration to prevent perforation.

In small tumors, emergency tracheotomy may secure adequate ventilatory support. Nielsen and Pringle¹³, however, suggested that repeated prenatal needling of the cystic components may significantly reduce the tumor mass and facilitate neonatal surgery. Moreover, just prior to delivery, this needling may reduce the compression of the larynx and trachea to favor intubation.

A recent report4 proposed the use of an extracorporeal membrane oxygenation system by cannulation of the umbilical arteries and vein and the pharmacological support of fetal circulation. This procedure creates time to explore the fetal larynx and trachea without asphyxiating the newborn. In cases of major obstruction, temporary blood oxygenation allows immediate surgical neck exploration to establish an adequate ventilation.

Large teratomas of the neck, although rarely occurring in fetal life, do not represent a negligible perinatal mortality risk. After prenatal diagnosis, a multidisciplinary approach is necessary to cope with the immediate neonatal respiratory threat.

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