Congenital orbital teratoma: a rare case with intracranial extension.

INTRODUCTION: Teratoma is the most common congenital tumor, but the orbital location is rare. It is composed of tissues from ectoderm, mesoderm, and endoderm. CLINICAL PRESENTATION: Congenital orbital teratoma commonly presents as unilateral proptosis, with rapid growth, leading to exposure keratopathy. DIAGNOSIS: Prenatal ultrasound may detect the orbital mass, computed tomography (CT) scans, and magnetic resonance (MR) imaging are better in demonstrating multilocular cystic and solid mass, without bone erosion. Laboratory tests should include alfa-fetoprotein (AFP) and B-human chorionic gonadotropin (B-HCG), and histopathologically, it contains all three germ cell layers components. The management is surgical removal of the lesion, the mature teratoma has a benign behavior, and the immature has a poor prognostic. We describe a rare case of congenital orbital teratoma with intracranial extension of the lesion, in which was treated with orbital exenteration. After surgery, AFP levels decreased, the middle face displacement has improved and development milestones were appropriate.

Large congenital cervical mass in a neonate: prenatal diagnosis and postnatal management of teratoma: a case report.

INTRODUCTION: Cervical teratomas are rare congenital neoplasms that can cause neonatal airway obstruction if large. CASE PRESENTATION: The female Persian neonate displayed respiratory distress at birth, with a 7 cm × 8 cm cystic solid mass identified on the left side of the neck. Antenatal ultrasonography revealed polyhydramnios. Despite initial stabilization, the infant required intubation and mechanical ventilation due to persistent respiratory distress. Imaging confirmed a cystic mass compressing the trachea, ruling out cystic hygroma. Surgical resection on postnatal day 17 revealed a 10 cm × 10 cm solid cystic structure, histologically identified as an immature teratoma. CONCLUSION: Despite risks of poor fetal and postnatal outcome from large cervical teratomas, early surgical resection after airway stabilization can result in recovery. Proper multidisciplinary management of respiratory distress from such tumors is paramount.

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.

Human diprosopus: Case report of a rare congenital abnormality.

Diprosopus is a congenital anomaly in which partial or complete duplication of craniofacial structures occurs. Because it is rare, the mortality rate is high, and information concerning this anomaly is scarce. This study describes a case of human diprosopus in a 9-year-old male individual, who has severe complications associated with the central nervous, cardiovascular, respiratory, and digestive systems. Since birth, he has been monitored in a specialized hospital environment, where he has undergone several surgeries and multidisciplinary treatments. Regarding the craniofacial aspects, he had agenesis of the corpus callosum, floor of the nasal cavity, and floor of the anterior cranial fossa, in addition to the presence of bone dysplasia, ocular hypertelorism and cleft palate with nasal and oral teratoma. Regarding dental characteristics, the patient has duplication of the maxilla, mandible, tongue, and some teeth. After complementary imaging exams, several supernumerary teeth were found, with some being impacted and in complex regions, with an indication for extraction due to the risks of impaction, irruptive deviation, root resorption, and associated cystic or tumoral lesions. Because of the numerous complications, knowledge, and preparation of the entire team is necessary for the correct management of the case.

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.

Teratoma orbitario maduro congénito: reporte de un caso / Congenital mature orbital teratoma: A case report

Los teratomas son neoplasias gonadales o extragonadales, derivadas de los tres tejidos embrionarios, compuesto de células germinales del neuroectodermo, del mesodermo y del ectodermo. El teratoma orbitario congénito (TOC) afecta comúnmente a la órbita izquierda, predominando en mujeres sobre hombres a razón 2:1. Se presenta el caso de un paciente femenino de 9días de vida extrauterina con un teratoma orbitario congénito maduro izquierdo, intervenida por el servicio de órbita y oculoplástica, realizando una exenteración orbitaria y resección total de la masa tumoral (AU)

Teratomas are gonadal or extragonadal neoplasms, derived from the three embryonic tissues, composed of germ cells of the neuroectoderm, mesoderm and ectoderm. Congenital orbital teratoma (OCT) commonly affects the left orbit, primarily affecting women over men at a ratio of 2:1. We present the case of a female patient of 9days of extrauterine life with a left mature congenital orbital teratoma. The orbit and oculoplastic service performed an orbital exenteration and total resection of the tumor mass (AU)

Congenital mature orbital teratoma: A case report.

Teratomas are gonadal or extragonadal neoplasms, derived from the three embryonic tissues, composed of germ cells of the neuroectoderm, mesoderm and ectoderm. Congenital orbital teratoma (OCT) commonly affects the left orbit, primarily affecting women over men at a ratio of 2:1. We present the case of a female patient of 9 days of extrauterine life with a left mature congenital orbital teratoma. The orbit and oculoplastic service performed an orbital exenteration and total resection of the tumor mass.

Post-auricular teratoma in an HIV-exposed newborn.

Teratomas in the neonatal age group are mostly benign at first, and the common site is the sacrococcygeal region. They are rarely associated with HIV infection. We report a case of an HIV-exposed newborn with a congenital teratoma at the post-auricular site who developed an infection. Early intervention by total surgical resection will prevent complications such as infections and malignant transformation. A term baby was delivered spontaneously by an HIV-positive mother who was on her regular medications. Prenatal ultrasound carried out in the third trimester showed a cyst swelling on the right post-auricular region. Radiological imaging and the histopathological result revealed a congenital teratoma. A wide major excision with preservation of the facial nerve was performed at the age of 8 weeks. Post-auricular teratomas are the rarest anatomical location and the prevalence of malignant transformation from benign is very low. If left untreated, this tumour is associated with high mortality and malignant transformation rates. An early complete surgical excision allows a good result with a low risk of complications and recurrence.

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.

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.

THE "-OMAS" and "-OPIAS": Targeted and Philosophical Considerations Regarding Hamartomas, Choristomas, Teratomas, Ectopias, and Heterotopias in Pediatric Otorhinolaryngologic Pathology.

The spectrum of "developmental" lesions that occur in the head and neck predominantly congenital in origin and arising at birth and/or discovered in childhood is broad and fascinating. These have been grouped into categories such as "ectopias", "heterotopias", "hamartomas", and "choristomas". On a philosophical and consequently systematic level, these lesions, mostly benign tumors seem to lack a true understanding of the pathogenetic foundation on which to base a more unified taxonomic designation. In this review, we will consider some of these select tumors as they represent syndromic associations (nasal chondromesenchymal hamartoma and DICER1 syndrome), the lingual choristoma from the perspective of its nomenclature and classification, lesions with ectopic meningothelial elements, and teratomas and the enigmatic "hairy polyp" in reference to a broader discussion of pathogenesis and pluripotent cells in the head and neck. A consistent thread will be how these lesions are designated with some final thoughts on future directions regarding the investigation of their pathogenesis and taxonomic nomenclature.

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.

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.

[EXIT: Experiences from Karolinska University Hopsital]. / EXIT ­ säkraste förlossningsmetod för foster med livshotande luftvägshinder - Samlade erfarenheter från Karolinska universitetssjukhuset.

The main, but not sole, indication for an Ex-utero Intrapartum Treatment (EXIT) delivery is an airway obstruction due to either laryngeal atresia or tumors in the head and neck region. Here we present our Institution's experience with eleven cases: three teratomas, four lymphatic malformations, two laryngeal atresias and two dermoid cysts. The EXIT procedure was used to secure the fetal airway while maintaining uteroplacental gas exchange and fetal hemodynamic stability through the umbilical circulation. Five fetuses required tracheostomy. Only one fetal death occurred due to extensive growth of a teratoma preventing us from establishing an airway. No other fetal or major maternal complication occurred. The EXIT procedure is a complex procedure and these rare cases should be referred to a center with a dedicated and experienced multidisciplinary team.

[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.

Long-term outcome of pre- and perinatal management of congenital head and neck tumors and malformations.

INTRODUCTION: Congenital head and neck pathology may cause direct postnatal airway obstruction. Prenatal diagnosis facilitates safe delivery with pre- and perinatal airway assessment and management and Ex-Utero-Intrapartum-Treatment (EXIT) if necessary. Fetoscopic airway evaluation can optimize the selection of patients in need of an EXIT procedure. METHODS: Description of 11 consecutive fetuses, born with a potential airway obstruction between 1999 and 2011 and treated at the University Hospitals Leuven, with a long-term follow-up until 2018. An algorithm including fetoscopic airway evaluation is presented. RESULTS: In utero imaging revealed seven teratomas, one fourth branchial pouch cyst, one thymopharyngeal duct remnant, one lymphatic malformation and one laryngeal atresia. A multidisciplinary team could avoid EXIT in eight patients by ultrasonographic (n = 2) or fetoscopic (n = 6) documentation of accessible airways. Three patients needed an EXIT-to-airway-procedure. Neonatal surgery included tracheostomy during EXIT (n = 2) and resection of teratoma (n = 7) or branchiogenic pathology (n = 3). All patients do well at long-term (minimum 54 months) follow-up. CONCLUSIONS: Combining prenatal imaging and perinatal fetoscopy, EXIT-procedure and neonatal surgery yields an optimal long-term outcome in these complex patients. Fetoscopy can dramatically reduce the number of EXIT-procedures.