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.

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.

Diffusion-weighted imaging in pediatric extracranial germ cell tumors.

BACKGROUND: Germ cell tumors (GCTs) comprise a rare and heterogeneous group of neoplasms presenting different clinical and histological characteristics, leading to a challenging scenario in clinical practice. Diffusion-weighted imaging (DWI) has been suggested as an indirect marker of tumor density and cellularity and could be used to monitor therapeutic response. However, its role in pediatric GCTs needs to be clarified. PURPOSE: Here, we evaluated the features of DWI in pediatric extracranial GCTs in a reference Brazilian institution. MATERIAL AND METHODS: We included 43 pediatric patients with primary GCTs treated between 2008 and 2022 in Hospital de Amor de Barretos. The patients' MRI images included T1-weighted without contrast, T2-weighted, DWI and apparent diffusion coefficient (ADC) maps. DWI was evaluated in the section that exhibited the greatest restricted diffusion in the largest hypersignal area of the image. The lowest ADC value was determined to define the region of interest (ROI). We used a small ROI, avoiding necrotic, adipose tissue, noisy or nonenhancing lesion voxels as recommended. ROI determination was established by visual inspection by two radiologists in accordance. We used two values of b (b = 50 mm2/s or b = 800) for ADC values. RESULTS: The highest mean ADC (mADC) value was observed in pure teratomas (1,403.50 ± 161.76 x10-3 mm2/s; mean ± SD) compared to other histologies (yolk sac, mixed teratoma, dysgerminoma and mixed GCT) of GCT (p<0.001). Furthermore, ROC analysis determined a cutoff mADC value of 1,179.00 x 10-3 mm2/s that differentiated pure teratomas from the other GCT histologies with a sensitivity of 95.8% and a specificity of 92.9% (AUC = 0.979; p<0.01). A significant increase in mADC was observed for malignant GCTs in treatment (1,197.00 ± 372.00 mm2/s; p<0.001) compared to that exhibited at the time of diagnosis (780.00 ± 168.00 mm2/s; mean ± SD. Our findings suggest that mADC assessment could be used as a tool to distinguish pure teratomas from malignant CGT histologies at diagnosis. Additionally, we demonstrated reasonable evidence that it could be used as a complementary tool to monitor treatment response in patients with malignant GCT.

Large congenital facial teratoma.

This case report discusses a presentation of a giant facial teratoma, a rare congenital neoplasm. Head and neck locations of the tumour uncommonly distort the face and may be associated with functional problems. We present a case of teratoma arising from the right parotid extending to the extracranial regions, successfully managed by surgical resection. Reviewing this case with the supporting body of literature anticipates further investigation to address patients' needs more thoroughly.

Prenatal Diagnosis and Outcome of Intrapericardial Teratoma: Report of Two Clinical Scenarios.

Intrapericardial teratoma is a rare tumor composed of tissue from the three germ cell layers with a rapid growth that may cause severe hemodynamic complications due to compressive effects. We present two clinical cases: the first case had severe fetal heart failure with fatal outcome, and the second underwent surgical treatment during the immediate postnatal period with a favorable evolution. Although teratomas are histologically benign tumors, rapid growth can cause serious hemodynamic complications. The importance of prenatal diagnosis is to allow appropriate monitoring of tumor growth and establish a prompt therapeutic plan. Opportune surgical treatment can prevent death and improve the prognosis of these patients.

Cervical intramedullary teratoma: a case report and systematic review of the literature.

Here, we report a case of a 3-year-old female who presented to clinic with an enlarging mass in the posterior cervical midline. The mass was present since birth and demonstrated no cutaneous stigmata. Plain film, CT, and MRI of the cervical spine (C3-C5) revealed enlargement of the spinal canal, soft tissue calcification, spinal dysraphism, and an intramedullary, predominantly fatty, mass. The mass had associated calcifications and a highly proteinaceous cyst. Surgical resection of the spinal lesion was subsequently performed. Histopathological evaluation revealed a mature teratoma. Cervical spinal teratomas in the pediatric population are rare entities with few cases currently reported in the literature. We conducted a systematic review to outline the current evidence detailing cases of intramedullary spinal cord teratomas. Six articles were included for final review. All patients in the included articles underwent maximal surgical resection with one patient also receiving chemotherapy and radiation. With our report, we aim to add to the literature on cervical intramedullary spinal cord teratomas in the pediatric population.

Tumores cardíacos pediátricos: características de imagens ecocardiográficas / Pediatric cardiac tumors: echocardiographic imaging features

Tumores cardíacos (TC) em crianças são lesões muito raras, mas seu diagnóstico é fundamental para a conduta adotada para o paciente. A ecocardiografia é a modalidade de imagem cardiovascular mais utilizada na prática clínica para o diagnóstico inicial de TC em pacientes pediátricos. Conhecer as características ecocardiográficas das TCs pode possibilitar um diagnóstico cada vez mais precoce e a identificação de sua etiologia mais provável. Os TCs primários e benignos são os mais frequentes na população pediátrica. Entre os TCs benignos, os mais frequentes em fetos e neonatos são rabdomiomas e teratomas. Em crianças e adolescentes, rabdomiomas e fibromas são os mais comuns. Neste artigo, descrevemos as características ecocardiográficas dos principais TCs em idades pediátricas.(AU)

Cardiac tumors (CTs) in children are very rare, but their diagnosis is crucial for patient management. Echocardiography is the most commonly used cardiovascular imaging modality in clinical practice for the initial diagnosis of CTs in pediatric patients. Knowing the echocardiographic characteristics of CTs can enable an increasingly early diagnosis and the identification of its most likely etiology. Primary and benign CTs are the most frequent types in the pediatric population. Among benign CTs, the most frequent in fetuses and neonates are rhabdomyomas and teratomas. In children and adolescents, rhabdomyomas and fibromas are more common. Here we describe the echocardiographic characteristics of the most common CTs in pediatric patients.(AU)

Reporte de un caso fatal de encefalitis autoinmunitaria asociada a teratoma ovárico / Report of a fatal case of autoimmune encephalitis associated with an ovarian teratoma

INTRODUCCIÓN: El teratoma del ovario es el tumor de células germinales más frecuente. Entre sus complicaciones se describen algunos síndromes paraneoplásicos, como la encefalitis por anticuerpos contra el receptor N-metil-D-aspartato (NMDA). CASO CLÍNICO: Mujer de 22 años sin antecedentes de importancia que consulta por cuadro clínico de 4 días de evolución caracterizado por síntomas psiquiátricos y un episodio convulsivo. Se considera un cuadro de meningoencefalitis y se indica manejo antibiótico de amplio espectro y antiviral. Ante el deterioro se sospecha una encefalitis autoinmunitaria, se identifica un tumor anexial en los estudios imagenológicos compatible con teratoma y se confirma el diagnóstico con el hallazgo de anticuerpos NMDA en el líquido cefalorraquídeo. A pesar de su resección y manejo sistémico, fallece a los 5 meses. DISCUSIÓN: La encefalitis autoinmunitaria asociada a un teratoma es inusual, pero es una complicación que debe sospecharse como diagnóstico de exclusión. La mayoría tienen un pronóstico favorable, aunque hasta una cuarta parte de los casos puede asociarse a daño irreversible en la corteza del hipocampo e incluso la muerte, principalmente cuando el diagnóstico y el tratamiento son tardíos. CONCLUSIONES: Este caso es un reto clínico que representa un vacío en la evidencia actual, puesto que no existe un estándar de manejo de los teratomas. Se propone que, una vez diagnosticado un teratoma, se realice una cistectomía ovárica. Son necesarios más estudios para validar esta recomendación.

INTRODUCTION: The ovarian teratoma is the most common cell germ tumor. Some paraneoplastic syndromes have been described, including the anti-N-methyl-D-aspartate (NMDA) receptor encephalitis as part of its complications. CASE REPORT: A 22 years old female patient with no important medical history, consults due to an acute psychotic disorder and a convulsion. A meningoencephalitis was considered and broad-spectrum antibiotics and antivirals were started. Faced with deterioration, an autoimmune encephalitis is considered as well. Imaging studies revealed an ovarian teratoma and diagnosis was confirmed with antibodies against NMDA receptor in cerebrospinal fluid. Despite its resection and systemic management, the patient dies after 5 months. DISCUSSION: The autoimmune encephalitis associated with an ovarian teratoma is rare, its a complication that must be suspected as an exclusion diagnosis and most have a favorable prognosis, however up to a quarter of cases can be associated with irreversible damage to the hippocampal cortex and even death, mainly when late diagnosis and treatment are made. CONCLUSIONS: This case is a clinical challenge, no evidence is available since there is no standard for teratoma management. It is proposed that once a teratoma is diagnosed, an ovarian cystectomy is performed. Further studies are necessary to validate this recommendation.

Presentación inusual de teratomas ováricos bilaterales en gemelas / Bilateral ovarian mature teratomas in twins: an unsual presentation

RESUMEN Los teratomas maduros son los tumores ováricos más frecuentes en edad pediátrica. A la fecha, se han descrito escasos reportes sobre su aparición en gemelas. Se presenta el caso de teratomas ováricos bilaterales en gemelas bicoriales, tratadas con tumorectomía laparoscópica. A los 45 días post-operatorios, ambas presentan recurrencia bilateral con marcadores tumorales negativos. Se realiza una nueva tumorectomía laparoscópica, cuyo estudio histopatológico confirma teratomas maduros. Presentan segunda recurrencia evidenciada en control imagenológico a los 2 meses post-quirúrgicos. Se plantea la posible asociación genética y/o familiar en la aparición de teratomas ováricos, la cual, hasta el momento, es prácticamente desconocida.

ABSTRACT Mature cystic teratomas are the most frequent ovarian tumor in children. There are few reports describing mature teratoma in twins to date. We present a case of bicorial twins with bilateral ovaric mature cystic teratoma treated with laparoscopic tumorectomy. 45 days after surgery, both present bilateral recurrence with negative tumor markers. The patients underwent a new laparoscopic tumor resection, where histopathological diagnosis confirms mature teratomas. Ultrasound control describes second recurrence 2 months after surgery. There is a possible genetic and/or family association in the presentation of ovarian teratomas, which currently, is unknown.

Mature cystic teratoma of suprahepatic localization, presentation of case and literature review.

We present the case of a suprahepatic tumor related to mature cystic teratoma, extragonadal germ cell tumors are rare and represent from 1.6 to 5% of all germ cell tumors, the most common site and the extragonadal presentation is the mediastinum (50-70%), retroperitoneum (30-40%), other rare locations pineal gland, sacrococcal region, prostate and bladder; however, the supra-hepatic location is not so common and is not documented in the literature.

El tumor suprahepático se relaciona con el teratoma quístico maduro. Los tumores de células germinales extragonadales son raros y representan del 1,6 al 5% de todos los tumores de células germinales. El sitio más común y la presentación extragonadal es el mediastino (50-70%), seguido del retroperitoneo (30-40%) Otras localizaciones raras son la glándula pineal, la región sacrococcígea, la próstata y la vejiga; sin embargo, la localización suprahepática no es tan común y no está documentada en la literatura.

Primary retroperitoneal tumor during pregnancy: Case report and review of the literature / Tumor retroperitoneal primario durante el embarazo: reporte de un caso y revisión de la literatura

OBJECTIVE: To report the case of a pregnant patient diagnosed with a primary retroperitoneal tumor and to conduct a review of the literature pertaining to the diagnosis, treatment and maternal-fetal prognosis of this disease condition during pregnancy. METHODS: A 19-year-old patient who presented with a retroperitoneal tumor identified on ultrasound. The results of the percutaneous biopsy showed a benign tumor. A healthy neonate was delivered by cesarean section. Surgical resection was performed four months later, and histopathology showed a mature cystic teratoma. A search was conduced in the Medline via PubMed, Lilacs, SciELO and ScienceDirect databases using the terms "pregnancy," "neoplasms," and "retroperitoneal neoplasms," including case reports and case series of retroperitoneal tumors during pregnancy. Diagnosis, treatment and maternal-fetal prognosis were identified. RESULTS: Overall, 1658 titles were identified. Of these, 34 case reports and 1 case series met the inclusion criteria. Of the cases, 62.9 % were benign. Diagnosis was made as an incidental finding in 63 % of cases, and 77 % of the masses were identified on ultrasound. Percutaneous biopsy was used in 8 % of cases, including the case reported here. Surgical treatment was used in 88 % of cases usually after delivery. Maternal mortality occurred in 8.5 % of cases. Fetal prognosis was good in 65 % of the pregnancies. CONCLUSIONS: Despite being frequently benign, retroperitoneal tumors during gestation have a reserved maternal and fetal prognosis in a substantial number of cases. There is a need to assess the risks and benefits of percutaneous biopsy.

TITULO: TUMOR RETROPERITONEAL PRIMARIO DURANTE EL EMBARAZO: REPORTE DE UN CASO Y REVISIÓN DE LA LITERATURA. OBJETIVO: Reportar el caso de una paciente gestante con diagnóstico de tumor retroperitoneal primario y hacer revisión de la literatura del diagnóstico, tratamiento y pronóstico materno-fetal de esta entidad durante el embarazo. METODOS: Gestante de 19 años que consulta por tumor retroperitoneal identificado por ecografía, se realizó biopsia percutánea con resultado de tumor benigno; parto por cesárea con recién nacido sano. A los 4 meses se realizó resección quirúrgica, la histopatología mostró un teratoma quístico maduro. Se realizó búsqueda en las bases de datos de: Medline vía PubMed, Lilacs, SciELO y ScienceDirect, con los términos: "embarazo", "neoplasias" y "neoplasias retroperitoneales", incluyendo reportes y series de caso de tumores retroperitoneales en el embarazo. Se identificó el diagnóstico, tratamiento y pronóstico materno-fetal. RESULTADOS: Se identificaron 1.658 títulos, de los cuales 34 reportes de casos y una serie de casos cumplieron con los criterios de inclusión. El 62,9 % eran tumores benignos. El diagnóstico se hizo como hallazgo incidental en el 63 % de los casos, el ultrasonido identificó la masa en el 77 %, la biopsia percutánea se utilizó en el 8 % de los casos incluyendo el reportado. El tratamiento quirúrgico fue utilizado en el 88 % de los casos, generalmente después del parto. Hubo mortalidad materna en el 8,5 % de los casos. El pronóstico fetal fue bueno en el 65 % de las gestaciones. CONCLUSIONES: Los tumores retroperitoneales en la gestación, a pesar de ser principalmente benignos, tienen un pronóstico materno y fetal reservado en un importante número de casos. Se requiere evaluar los beneficios y riesgo de la biopsia percutánea.

Prenatal diagnosis of cervical masses by magnetic resonance imaging and 3D virtual models: perinatal and long-term follow-up outcomes.

Objective: To assess perinatal and long-term follow-up outcomes of fetal cervical masses diagnosed by three-dimensional (3D) magnetic resonance imaging (MRI) and 3D virtual models.Methods: This retrospective cohort study evaluated 15 pregnant women (age, 21-38 years) at 29-40 weeks of singleton gestation, whose fetuses exhibited congenital oral and cervical masses. These women were referred to our facility because of suspected fetal malformations on routine obstetric ultrasound, and the cases were confirmed, excluded, or complemented by MRI. Demographic data and perinatal and long-term follow-up outcomes were assessed.Results: Cervical masses were predominant in females (3:2), and the most frequent diagnosis was lymphatic-venous malformation (71%). The masses were cystic in 53.3% of the cases and solid in 46.7%. The esophagus and trachea were displaced in 46.6% of the cases. Associated malformations were diagnosed in 13.3% of the cases. There was complete agreement between prenatal MRI and postnatal diagnoses. Among the newborns, 40% had complications and 46.6% were admitted to the neonatal intensive care unit. Two infants died from complications due to epignathus. Surgical resection was performed in 33.3% of the cases, including complete resection in 26.6%. Sclerotherapy was administered to 53.3% of the cases, with complete remission achieved in 50% of these cases.Conclusion: Cervical masses diagnosed in the prenatal period had good postnatal outcomes except for cases of epignathus, which were associated with high mortality. MRI demonstrated the relationship between cervical masses and adjacent organs and allowed 3D virtual reconstruction of the airways. There was complete agreement between the prenatal diagnosis of cervical masses on MRI and postnatal diagnosis. Surgical treatment was effective in most cases, and sclerotherapy was satisfactory in cases with intrathoracic components.

Rare Case of Sarcomatoid Squamous Cell Carcinoma Arising in an Ovarian Mature Teratoma.

Although mature cystic teratoma (MCT) is benign, malignant transformation (MT) occurs in ∼ 1% to 2% of all cases, and usually consists of squamous cell carcinoma (SCC), which accounts for ∼ 80% of the cases. Spindle-cell (sarcomatoid) carcinoma (SCSC) is an uncommon type of SCC, comprising up to 3% of all cases. The lack of characteristic symptoms and specific imaging findings may lead to preoperative misdiagnosis. Moreover, the clinicopathologic characteristics, the treatment, the prognostic factors and the mechanism of MT have not yet been well understood due to the rarity of such tumors, especially in women of reproductive age. The authors present a case of a 34-year-old patient with 14 weeks of gestation who was diagnosed with an adnexal mass suggestive of ovarian teratoma. A laparoscopy salpingo-oophorectomy was performed after 6 months of delivery, and the histological exam revealed a sarcomatoid SCC in the MCT.

Embora o teratoma cístico maduro (MCT) seja benigno, a transformação maligna (MT) ocorre em cerca de 1% a 2% dos casos, e geralmente apresenta-se sob a forma de carcinoma espinocelular (CEC), responsável por cerca de 80% dos casos. O carcinoma (sarcomatoide) de células fusiformes (CSCF) é um tipo incomum de CEC, compreendendo até 3% de todos os casos. A falta de sintomas característicos e achados imagiológicos específicos pode levar a erros diagnósticos pré-operatórios. Além disso, as características clinico-patológicas, o tratamento, os fatores prognósticos e o mecanismo da MT ainda não são bem compreendidos devido à raridade de tais tumores, principalmente em mulheres em idade reprodutiva. Os autores apresentam um caso de uma paciente de 34 anos com 14 semanas de gestação que foi diagnosticada com uma massa anexial sugestiva de teratoma do ovário. A anexectomia laparoscópica foi realizada após 6 meses do parto, e o exame histológico revelou um CEC sarcomatoide tendo como origem um MCT.

Clinical approach to the diagnosis and successful management of anti-NMDA receptor encephalitis when antibody testing is not possible.

Anti-N-methyl-D-aspartate (NMDA) receptor encephalitis is a multistage illness that progresses from psychosis, memory deficits, seizures and language disintegration to a state of unresponsiveness with catatonic features often associated with abnormal movements, and autonomic and breathing instability. While the disorder predominantly affects children and young adults, and occurs with or without tumour association, the presence of a tumour (usually an ovarian teratoma) is dependent on the age, sex and ethnicity.Teratomas present more frequently in women older than 18 years, and are more predominant in black women than Caucasians. Here we present the case of a patient with probable anti-NMDA receptor encephalitis. She was subsequently found to have a mature teratoma of the ovary (dermoid cyst). Despite immune-modulated therapy, surgery was eventually performed to remove the cyst. This was met with a good clinical recovery.

Rare case of sarcomatoid squamous cell carcinoma arising in an ovarian mature teratoma / Caso raro de carcinoma espinocelular sarcomatoide que surge em um teratoma ovariano maduro

Abstract Although mature cystic teratoma (MCT) is benign, malignant transformation (MT) occurs in ~ 1% to 2% of all cases, and usually consists of squamous cell carcinoma (SCC), which accounts for ~ 80% of the cases. Spindle-cell (sarcomatoid) carcinoma (SCSC) is an uncommon type of SCC, comprising up to 3% of all cases. The lack of characteristic symptoms and specific imaging findings may lead to preoperative misdiagnosis. Moreover, the clinicopathologic characteristics, the treatment, the prognostic factors and the mechanism of MT have not yet been well understood due to the rarity of such tumors, especially in women of reproductive age. The authors present a case of a 34- year-old patient with 14 weeks of gestation who was diagnosed with an adnexal mass suggestive of ovarian teratoma. A laparoscopy salpingo-oophorectomy was performed after 6 months of delivery, and the histological exam revealed a sarcomatoid SCC in the MCT.

Resumo Embora o teratoma cístico maduro (MCT) seja benigno, a transformação maligna (MT) ocorre em cerca de 1% a 2% dos casos, e geralmente apresenta-se sob a forma de carcinoma espinocelular (CEC), responsável por cerca de 80% dos casos. O carcinoma (sarcomatoide) de células fusiformes (CSCF) é um tipo incomum de CEC, compreendendo até 3% de todos os casos. A falta de sintomas característicos e achados imagiológicos específicos pode levar a erros diagnósticos pré-operatórios. Além disso, as características clinico-patológicas, o tratamento, os fatores prognósticos e o mecanismo da MT ainda não são bem compreendidos devido à raridade de tais tumores, principalmente em mulheres em idade reprodutiva. Os autores apresentam um caso de uma paciente de 34 anos com 14 semanas de gestação que foi diagnosticada comumamassa anexial sugestiva de teratoma do ovário. A anexectomia laparoscópica foi realizada após 6 meses do parto, e o exame histológico revelou um CEC sarcomatoide tendo como origem um MCT.