Prenatally Diagnosed Congenital Oral Teratoma Successfully Treated in a Neonate.

Teratomas are congenital malformations that rarely occur in the oral cavity. In the case reported here, fetal magnetic resonance imaging performed at 30 weeks of gestation informed the decision-making of the multidisciplinary management team, who closely followed the pregnancy until the scheduled cesarean delivery at 38 weeks of gestation. After delivery, tracheal intubation was performed to ensure airway patency, and tumor resection was scheduled immediately after ruling out contraindications to surgery based on preoperative examinations, allowing for safe excising of the tumor. Postoperative follow-up at 3 months showed no abnormalities.

Congenital Gastric Teratoma Presenting with Gastrointestinal Bleeding: Case Report and Review of Literature.

BACKGROUND: Gastric teratoma is an extremely rare tumor, representing <1% of all pediatric teratomas, and commonly manifests as a palpable abdominal mass. Upper gastrointestinal tract bleeding in newborns and infants is rare and is mostly caused by a benign lesion. CASE REPORT: We present a 3-month-old boy who presented with recurrent attacks of hematemesis, vomiting, and melena which on work up revealed a gastric teratoma. DISCUSSION/CONCLUSION: Owing to the unique characteristics and the extreme rarity of this entity, accurate preoperative diagnosis has remained elusive.

Congenital orofacial teratoma in a 22-week foetus.

No abstract available.

Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors.

In a subset of pediatric cancers, a germline cancer predisposition is highly suspected based on clinical and pathological findings, but genetic evidence is lacking, which hampers genetic counseling and predictive testing in the families involved. We describe a family with two siblings born from healthy parents who were both neonatally diagnosed with atypical teratoid rhabdoid tumor (ATRT). This rare and aggressive pediatric tumor is associated with biallelic inactivation of SMARCB1, and in 30% of the cases, a predisposing germline mutation is involved. Whereas the tumors of both siblings showed loss of expression of SMARCB1 and acquired homozygosity of the locus, whole exome and whole genome sequencing failed to identify germline or somatic SMARCB1 pathogenic mutations. We therefore hypothesized that the insertion of a pathogenic repeat-rich structure might hamper its detection, and we performed optical genome mapping (OGM) as an alternative strategy to identify structural variation in this locus. Using this approach, an insertion of ~2.8 kb within intron 2 of SMARCB1 was detected. Long-range PCR covering this region remained unsuccessful, but PacBio HiFi genome sequencing identified this insertion to be a SINE-VNTR-Alu, subfamily E (SVA-E) retrotransposon element, which was present in a mosaic state in the mother. This SVA-E insertion disrupts correct splicing of the gene, resulting in loss of a functional allele. This case demonstrates the power of OGM and long-read sequencing to identify genomic variations in high-risk cancer-predisposing genes that are refractory to detection with standard techniques, thereby completing the clinical and molecular diagnosis of such complex cases and greatly improving counseling and surveillance of the families involved. © 2021 The Authors. The Journal of Pathology published by John Wiley & Sons, Ltd. on behalf of The Pathological Society of Great Britain and Ireland.

Orbital Teratoma: Case Report and Management Review.

Orbital teratoma is a rare, vision-threatening, congenital neoplasm derived from all germ cell layers. The management of orbital teratoma is uncertain because of its rarity and variable severity. We present a case with complete tumor excision with preservation of vision and cosmesis. A 4-day-old female presented with progressive proptosis of the OD. She was born term following an uneventful pregnancy and delivery. MRI of the orbits showed a large right-sided mass centered within the intraconal space with heterogeneous signal intensity characteristics consistent with a teratoma. She underwent a right posterior orbitotomy. The tumor was wrapped around the optic nerve but was gradually separated from it and all other normal structures and delivered intact. Histology was compatible with an immature teratoma without evidence of malignancy. The patient is now 6 months old, visually attentive with no evidence of optic neuropathy, and has essentially normal appearance.

Superior Vena Cava Syndrome and Hypoxic Ischemic Encephalopathy Secondary to a Massive, Right-Sided Immature Cervical Teratoma.

Cervical teratomas are a rare form of fetal teratoma that can grow to massive size. Generally, these masses can be surgically excised after birth with excellent physical and functional prognosis because the benign variants respect anatomical borders. The primary complications of these masses are associated with compromise of the trachea and esophagus: upper airway obstruction and polyhydramnios. We report the first documented occurrence of superior vena cava syndrome and hypoxic ischemic encephalopathy associated with a massive, right-sided cervical teratoma. This case highlights that when cervical teratomas are right-sided and sufficiently large, they can extend inferiorly and compromise central venous return to the heart. This unique presentation would likely have required fetal surgical excision to avoid catastrophic cerebral injury.

Sacrococcygeal teratoma in one twin: a case report and literature review.

BACKGROUND: Sacrococcygeal teratoma is one of the most common congenital tumors in newborns and infancy. The incidence is 1 per 20,000-40,000 live births. Ultrasonography is an optimal method for prenatal screening and diagnosis of fetal sacrococcygeal teratoma. MRI can be used to assist in the diagnosis. However, sacrococcygeal teratoma in the twin pregnancy is rare. CASE PRESENTATION: We reported a case of one twin with sacrococcygeal teratoma in dichorionic-diamniotic twin pregnancy.One twin with sacrococcygeal teratoma was diagnosed at the second trimester by ultrasonic examination and another twin was normal. A regular and careful antenatal care was conducted by the multidisciplinary team. The parents refused to perform the fetal MRI and examine the chromosome of both twin.At 37 + 1 of gestation, planned cesarean section was performed. The healthy male co-twin (twin A) weighed 2880 g.The male twin with SCT (twin B) weighed 2900 g, complying with 6 × 3 × 3 cm cystic and solid mass in sacrococcygeal region. At four days of age twin B underwent excisional surgery of the sacrococcygeal teratoma and coccyx and discharged 7 days after surgery. The mother and both babies were followed up and are all in good health until now. CONCLUSION(S): Sacrococcygeal teratoma in twin pregnancy is rare. Early antenatal diagnosis is important. Once the sacrococcygeal teratoma is diagnosed, clinicians should be aware of the associated maternal and fetal complications. Expecting parents should be counseled by the multidisciplinary team about the management and prognosis of the STC twin and co-twin. Prompt surgical excision of the sacrococcygeal teratoma after birth should be suggested.

Pedunculated Perianal Mass in a Neonate: A Rare Case Report.

Congenital perianal pedunculated masses are a rare occurrence in neonates. They are benign in nature and can be excised completely for definitive diagnosis. Here is a report of a rare case of pedunculated perianal mass occurring in a neonate managed successfully.

Spontaneous Regression of Atypical Teratoid Rhabdoid Tumor Without Therapy in a Patient With Uncommon Regional Inactivation of SMARCB1 ( hSNF5/INI1).

Atypical teratoid/rhabdoid tumor (ATRT) is a high-grade central nervous system tumor, with poor prognosis despite intensive multimodal therapy. Loss of nuclear immunostaining for INI1 due to inactivation of the hSNF5/INI1 tumor suppressor gene is pathognomonic of ATRT. We present a patient with congenital ATRT, who had spontaneous tumor regression without therapy, and is disease-free 4 years later. Tumor histopathology showed rhabdoid cells characteristic of ATRT, but immunohistochemistry revealed heterogeneous loss of nuclear INI1 staining. The populations of INI1-intact and INI1-deficient cells were separated by laser microdissection, for molecular analysis with DNA sequencing and fluorescence in situ hybridization. The INI1-negative cells were found to harbor a heterozygous deletion and truncating mutation of the hSNF5/INI1 locus, while the INI1-intact cells had 2 copies of the wild-type INI1 gene. To our knowledge, this is the first report of spontaneous regression of ATRT, with molecular heterogeneity for SMARCB1 inactivation, with no radiographic signs of recurrence at 4 years after diagnosis.

Neonatal Teratoma: Craniofacial Treatment.

Teratomas are rare congenital neoplasms. Head and neck locations of the tumor are uncommon with combined intracranial and extracranial extensions being even more rare. The authors present a case of teratoma involving the temporal, buccal, maxillary, orbital and extending to the intracranial regions, which was successfully managed by surgical resection.

[Preoperative Diagnosis of Spinal Immature Teratoma Associated with Cerebrospinal Fluid Leakage from the Congenital Dermal Sinus Tract in a 0-Day-Old Infant:A Case Report].

We report the case of a patient with spinal immature teratoma and cerebrospinal fluid leakage from the congenital dermal sinus tract. A 0-day-old female infant presented with a subcutaneous soft mass with a dimple in the lumbosacral region at birth. Magnetic resonance imaging revealed a mixed low-intensity mass located in the extraspinal and intraspinal canal with a sinus tract. The reconstructed three-dimensional spinal computed tomography image showed spina bifida and ectopic ossification at the dorsal aspect of the sacrum. Urgent removal of the tumor and dermal sinus tract was then performed under evoked electromyography monitoring. The resected tumor was histopathologically diagnosed as immature teratoma.

Epignathus (Palatal teratoma):A case report.

BACKGROUND: A case of a 2.7kg term baby with a large epignathus, a rare congenital teratoma arising from the palate is presented. Birth was by spontaneous vaginal delivery (SVD). The baby survived following a timely multidisciplinary approach to her management. This is the first reported case in Ghana.

Risk factors for perioperative mortality and transfusion in sacrococcygeal teratoma resections.

BACKGROUND: Sacrococcygeal teratomas are a common congenital tumor. Surgical resection can occur in utero, in the neonatal period, or in the postneonatal period. AIMS: We describe patient and tumor factors associated with mortality and transfusion in this population. METHODS: We did a retrospective chart review of patients who underwent sacrococcygeal teratoma resection between January 1998 and March 2016. Demographic data, transfusion data, and tumor characteristics were collected. Descriptive statistics were calculated, and univariate comparisons were performed with chi-square test and Fisher's exact test. Variables significant at univariate level were used in multivariate logistic regression and negative binomial regression. RESULTS: Of the 112 cases, 6 were in utero repairs, 73 were neonatal repairs, and 33 were repairs at >30 days of life. There was 17%, 1%, and 0% intraoperative mortality and 33%, 5%, and 0% 30-day mortality in the in utero, neonatal, and >30 days of life repairs, respectively. All six patients who died within the first 30 days of life had a postmenstrual age of <32 weeks at time of surgery. All six patients who died had noncystic tumors. Patients with noncystic tumors were more likely to be born prior to 30-week gestation (23/65 vs 6/47; χ2 = 7.3; P = 0.007). Gestational age >30 weeks was associated with decreased intraoperative death (0% vs 10%; modified maximum likelihood estimate of OR 0.05; 95% CI 0.002-0.96; P = 0.02). Gestational age >30 weeks (2.4% vs 13.8%; OR 0.15; 95% CI 0.03-0.89; P = 0.04) and cystic morphology (0% vs 9.2%; modified maximum likelihood estimate of OR 0.1; CI 0.01-1.75; P = 0.04) were associated with decreased 30-day mortality and emergent surgery (17.9% vs 1.2%; OR 18; 95% CI 2-162.2; P = 0.004) was associated with increased 30-day mortality. Gestational age >30 weeks (33.7% vs 62.1%; OR 0.27; 95% CI 0.09-0.79; P = 0.02) and Altman class 3-4 (12.1% vs 52.7%; OR 0.1; 95% CI 0.03-0.34; P = 0.0002) were associated with decreased need for transfusion and noncystic tumor was associated with increased transfusion volume (131.6 ml·kg-1 [95% CI 94-184] vs 63 ml·kg-1 [95% CI 40-100.1]; P = 0.01). CONCLUSIONS: Prematurity is associated with increased intraoperative and 30-day mortality. Noncystic tumor morphology was the only significant factor associated with transfusion volume and all six patients who died had transfusion volumes of 240 ml·kg-1 or greater. In these patients at high risk of mortality due to blood loss, the anesthesia team should be prepared to manage massive transfusion and coagulopathy with blood components and pharmacologic measures.

Malignant orbital teratoma in a neonate: A clinicopathological case report.

Teratoma of the orbit is rare; very few cases have been published in literature. A case of orbital teratoma in a neonate is presented where the proptosis was massive enough to obscure the eyeball. Clinically, the diagnosis of teratoma was considered. As there was no possibility of salvaging the eye, exenteration of the orbit was done. Orbital teratomas are generally benign. Histopathological examination revealed the features of malignant teratoma.

Sequence of Surgical Reconstruction in a Child With Cleft Lip and Palate Associated With Congenital Facial Teratomas.

We describe a case of left homolateral complete cleft lip/palate associated with a congenital left maxillary teratoma and left orbital teratoma. The patient required step-by-step reconstruction that first included resection of the 2 teratomas in consideration of cleft lip repair, cleft palate repair, and correction of the left periorbital anomalies, which were performed later. After performing all the necessary procedures, complete resection of the tumors and correction of the anomalies associated with the lip, palate, and left orbit were achieved. The rare occurrence of this type of association and its devastating effect on a patient's growth, aesthetics, and function of craniofacial elements require careful surgical planning to enable restoration of the anatomy and proper functional development. At follow-up, the patient showed significant improvement in the functional and aesthetic aspects.

Fetal neck tumors - antenatal and intrapartum management.

In this review article we describe the ante- and perinatal management of fetal neck tumors. Although there are rare congenital anomalies, the clinical consequences for the fetus may be fatal and include airways obstruction, heart insufficiency, pulmonary hypoplasia and cosmetic effect. The right management allows to decrease the fetal and neonatal mortality and morbidity associated with the disease. It includes intrauterine therapy in some cases, mostly in a goitrus hypothyroidism of the fetus, but firstly, an assessment of the fetal airways patency with a subsequent, eventual Ex-Utero Intrapartum Treatment (EXIT).

Congenital Retroperitoneal Teratoma in Neurofibromatosis Type 1.

Neurofibromatosis type 1 (NF1) is caused by mutations in the tumor suppressor gene NF1. The increased tumor risk in affected individuals is well established, caused by somatic biallelic inactivation of NF1 due to loss of heterozygosity. Pediatric teratoma has not been reported in individuals with NF1 previously. We report a case of congenital teratoma in an infant with a heterozygous maternally inherited pathogenic NF1 mutation (c.[1756_1759delACTA] and p.[Thr586Valfs*18]). We detected a "second hit" in the form of mosaic whole NF1 deletion in the tumor tissue using multiplex ligation-dependent probe amplification, as a proof to support the hypothesis of NF1 involvement in the pathogenesis of teratoma.

An unusual cause of inspiratory stridor in the newborn: congenital pharyngeal teratoma--a case report.

BACKGROUND: Neonatal inspiratory stridor is an important examination finding that requires immediate and adequate evaluation of the underlying etiology. Depending on the severity of the airway obstruction and the presence or absence of associated symptoms such as respiratory distress and feeding problems, early initiation of a complete diagnostic workup can be crucial. The most common cause of neonatal inspiratory stridor is laryngomalacia, however, several differential diagnoses need to be investigated. More rare causes include oral or laryngeal masses. Teratomas of the head and neck region are one of the most unusual causes of respiratory distress during the neonatal period. We present a case of a mature teratoma in the oropharynx presenting with airway obstruction in a newborn infant. CASE PRESENTATION: A four-day-old female Caucasian infant was admitted to the neonatal intensive care unit of our hospital because of inspiratory stridor and profound desaturations while feeding. Diagnostic workup by ultrasound, magnetic resonance imaging and flexible endoscopy revealed a pediculated lesion in the pharyngeal region causing intermittent complete airway obstruction. The mass was surgically removed by transoral laser resection on the seventh day of life. Histological evaluation was consistent with a mature teratoma without any signs of malignancy. The further hospital course was uneventful, routine follow-up examinations at 3, 6 and 9 months of age showed no evidence of tumor recurrence. CONCLUSION: Neonatal stridor is a frequent symptom in the neonatal period and is mostly caused by non-life-threatening pathologies. On rare occasions, however, the underlying conditions are more critical. A careful stepwise diagnostic investigation to rule out these conditions, to identify rare causes and to initiate early treatment is therefore warranted.

A Rare Nasopharyngeal Teratoma Arising From the Vomer.

Teratomas are rare germ cell neoplasms derived from the 3 germinal layers (ectoderm, mesoderm, and endoderm). Nasopharyngeal teratoma is a very rare teratoma arising anywhere from the oronasal cavity, regarded as an expanding, avity filling lesion, with a high mortality rate because of severe airway obstruction, especially in the neonatal period and make up only 2% of all teratomas. The authors present a case of an infant girl with a single, finger-like, hairy teratoma arising from the vomer and protruding from the mouth with bilateral complete cleft palate, cleft lip, and cleft alveolus. Complete intraoral resection of the teratoma and cleft lip repair was conducted simultaneously. Reconstruction of the cleft palate was performed at a later stage. Recurrence occurred 9 months after surgery and extended complete surgical excision was performed after recurrence, with no recurrence observed again to date. Histopathologic examination confirmed the diagnosis of congenital mature teratoma.

A Modified EXIT-to-ECMO with Optional Reservoir Circuit for Use during an EXIT Procedure Requiring Thoracic Surgery.

A 34 year old mother with a history of polyhydraminos and premature rupture of membranes presented for an ex utero intrapartum treatment (EXIT) procedure to deliver her 34 week gestation fetus. The fetus had been diagnosed with a large cervical mass which significantly extended into the right chest. The mass compressed and deviated the airway and major neck vessels posteriorly. Imaging also revealed possible tumor involvement with the superior vena cava and right atrium. The plan was for potential extracorporeal membrane oxygenation (ECMO) during the EXIT procedure (EXIT-to-ECMO) and the potential for traditional cardiopulmonary bypass (CPB) for mediastinal tumor resection. A Modified EXIT-To-ECMO with Optional Reservoir (METEOR) circuit was devised to satisfy both therapies. A fetal airway could not be established during the EXIT procedure and so the EXIT-to-ECMO strategy was utilized. The fetus was then delivered and transferred to an adjoining operating room (OR). Traditional cardiopulmonary bypass with a cardiotomy venous reservoir (CVR) was utilized during the establishment of an airway, tumor biopsy and partial resection. The patient was eventually transitioned to our institution's standard ECMO circuit and then transferred to the intensive care unit. The patient was weaned from ECMO on day of life (DOL) eight and had a successful tumor resection on DOL 11. The patient required hospitalization for numerous interventions including cardiac surgery at 4 months of age. She was discharged to home at 5 months of age.