RESUMEN

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.

Asunto(s)

Neoplasias Orbitales , Teratoma , Humanos , Teratoma/cirugía , Teratoma/congénito , Teratoma/diagnóstico por imagen , Teratoma/patología , Neoplasias Orbitales/cirugía , Neoplasias Orbitales/congénito , Neoplasias Orbitales/diagnóstico por imagen , Neoplasias Orbitales/patología , Imagen por Resonancia Magnética , alfa-Fetoproteínas/metabolismo , Tomografía Computarizada por Rayos X , Femenino , Masculino , Recién Nacido

RESUMEN

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.

Asunto(s)

Anomalías Craneofaciales , Humanos , Masculino , Niño , Agenesia del Cuerpo Calloso , Fisura del Paladar , Diente Supernumerario/diagnóstico por imagen , Diente Supernumerario/cirugía , Teratoma/congénito , Teratoma/cirugía , Teratoma/diagnóstico por imagen , Hipertelorismo , Anomalías Múltiples , Cavidad Nasal/anomalías , Cavidad Nasal/diagnóstico por imagen

RESUMEN

Las masas nasales congénitas de la línea media se presentan con una frecuencia muy baja ­1/20.000 a 1/40.000 nacidos vivos­. Se trata de hallazgos asintomáticos en el recién nacido y son resultado de anomalías congénitas del desarrollo embrionario, que suelen aparecer como masas en la línea media nasal en un punto cualquiera entre glabela y columela. Estas tumoraciones presentan un riesgo elevado de extensión al sistema nervioso central, lo que es especialmente importante tener en cuenta para prevenir consecuencias tales como la fístula de líquido cefalorraquídeo y/o la aparición de meningitis recidivante. Existen gran cantidad de tumores nasales de la línea media que aparecen en el recién nacido o en el lactante y que constituyen diagnósticos diferenciales de las lesiones congénitas antes descriptas. Describiremos brevemente los más frecuentes según nuestra experiencia. AU

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Congenital nasal masses of the midline are very rare ­ 1/20,000 to 1/40,000 live births ­. Nasal tumors are asymptomatic findings in the neonate and are caused by congenital abnormalities during fetal development, usually appearing at the nasal midline between the glabella and columella. These tumors are associated with a high risk of extension to the central nervous system; therefore, it is especially important to prevent the development of a cerebrospinal fluid fistula and/or recurrent meningitis. There is a large number of nasal tumors of the midline in neonates or infants in the differential diagnosis of the above-described congenital lesion. Here we briefly describe the most common nasal tumors seen at our department. AU

Asunto(s)

Humanos , Recién Nacido , Neoplasias Nasales/congénito , Neoplasias Nasales/diagnóstico por imagen , Neoplasias Nasales/patología , Neoplasias Nasales/cirugía , Nariz/anomalías , Quiste Dermoide/congénito , Encefalocele/congénito , Glioma/congénito , Granuloma/congénito , Hamartoma/congénito , Hemangioma/congénito , Nariz/patología , Nariz/cirugía , Rabdomiosarcoma/congénito , Teratoma/congénito

RESUMEN

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.

Asunto(s)

Labio Leporino/cirugía , Fisura del Paladar/cirugía , Neoplasias Maxilares/cirugía , Neoplasias Primarias Múltiples/cirugía , Neoplasias Orbitales/cirugía , Procedimientos de Cirugía Plástica/métodos , Teratoma/cirugía , Labio Leporino/complicaciones , Fisura del Paladar/complicaciones , Humanos , Lactante , Masculino , Neoplasias Maxilares/complicaciones , Neoplasias Maxilares/congénito , Neoplasias Primarias Múltiples/complicaciones , Neoplasias Primarias Múltiples/congénito , Neoplasias Orbitales/complicaciones , Neoplasias Orbitales/congénito , Teratoma/complicaciones , Teratoma/congénito

RESUMEN

We present a male newborn child with a sacrococcygeal mass who was sent to clinic 46 of the Mexican Social Security Institute located in Gomez Palacio, Durango, Mexico for pediatric/neonatal surgical resolution. The mass was detected on gestation week 24 in the sacrococcygeal area and was initially interpreted as a myelomeningocele. On gestation week 32, the mass had grown, so the diagnosis of cystic hygroma was posed. The child was born at 38 weeks of gestational age with a large tumor in the sacrococcygeal area. Images were obtained, and tumor resection was performed without complications. Pathologic examination confirmed the diagnosis of sacrococcygeal teratoma. The postoperative course was uneventful and there were no further complications.

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Se presenta el caso de un recién nacido del género masculino que es enviado a la clínica 46 del Instituto Mexicano del Seguro Social de Gómez Palacio, Durango, México para manejo por cirugía pediátrica y neonatología, por la presencia de una masa en región sacrococígea que fue detectada en la semana 24 de gestación como probable mielomeningocele. A las 32 semanas de gestación se observó un mayor crecimiento y se sospechó de un higroma quístico. Se programa cesárea a las 38 semanas de gestación y, después de exámenes imagenológicos, se realiza resección del tumor sin complicaciones. El estudio anatomopatológico confirmó el diagnóstico de teratoma sacrococcígeo. La evolución posoperatoria inmediata y su condición en la actualidad, son satisfactorias.

Asunto(s)

Enfermedades Fetales/diagnóstico , Diagnóstico Prenatal , Teratoma/diagnóstico , Femenino , Enfermedades Fetales/patología , Enfermedades Fetales/cirugía , Humanos , Recién Nacido , Masculino , México , Embarazo , Región Sacrococcígea , Teratoma/congénito , Teratoma/cirugía

RESUMEN

Gorlin-Goltz syndrome, or nevoid basal cell carcinoma syndrome (NBCCS), is a rare autosomal dominant disorder caused by mutations in the PTCH1 gene and shows a high level of penetrance and variable expressivity. The syndrome is characterized by developmental abnormalities or neoplasms and is diagnosed with 2 major criteria, or with 1 major and 2 minor criteria. Here, we report a new clinical manifestation associated with this syndrome in a boy affected by NBCCS who had congenital orbital teratoma at birth. Later, at the age of 15 years, he presented with 4 major and 4 minor criteria of NBCCS, including multiple basal cell carcinoma and 2 odontogenic keratocysts of the jaw, both confirmed by histology, more than 5 palmar pits, calcification of the cerebral falx, extensive meningeal calcifications, macrocephaly, hypertelorism, frontal bosses, and kyphoscoliosis. PTCH1 mutation analysis revealed the heterozygous germline mutation c.290dupA. This mutation generated a frameshift within exon 2 and an early premature stop codon (p.Asn97LysfsX43), predicting a truncated protein with complete loss of function. Identification of this mutation is useful for genetic counseling. Although the clinical symptoms are well-known, our case contributes to the understanding of phenotypic variability in NBCCS, highlighting that PTCH1 mutations cannot be used for predicting disease burden and reinforces the need of a multidisciplinary team in the diagnosis, treatment, and follow-up of NBCCS patients.

Asunto(s)

Síndrome del Nevo Basocelular/complicaciones , Síndrome del Nevo Basocelular/genética , Carcinoma Basocelular/complicaciones , Carcinoma Basocelular/genética , Mutación del Sistema de Lectura , Síndrome de Hamartoma Múltiple/complicaciones , Síndrome de Hamartoma Múltiple/genética , Neoplasias Orbitales/etiología , Receptores de Superficie Celular/genética , Teratoma/etiología , Adolescente , Síndrome del Nevo Basocelular/diagnóstico , Encéfalo/patología , Carcinoma Basocelular/diagnóstico , Análisis Mutacional de ADN , Mutación de Línea Germinal , Síndrome de Hamartoma Múltiple/diagnóstico , Humanos , Masculino , Neoplasias Orbitales/congénito , Neoplasias Orbitales/diagnóstico , Receptores Patched , Receptor Patched-1 , Radiografía Panorámica , Teratoma/congénito , Teratoma/diagnóstico , Tomografía Computarizada por Rayos X

RESUMEN

Sacrococcygeal teratoma (SCT) is rare germ cell tumor composed of multiple types of cells derived from the three primitive germ cell layers. SCT is the most common tumor of germ cells. In recent years the routinely use of prenatal obstetric ultrasonography has led to increase in the prenatal diagnosis of type of malformation. Management should be multidisciplinary and integrated by pediatric neurosurgeons, pediatric surgeons, pediatricians and oncologists. The advent of fetal surgery to identify fetuses at risk has improve survival. We present a review of the literature aimed to enable better understanding of this pathology.

Asunto(s)

Neoplasias de los Tejidos Blandos/congénito , Teratoma/congénito , Humanos , Pronóstico , Región Sacrococcígea , Neoplasias de los Tejidos Blandos/diagnóstico , Neoplasias de los Tejidos Blandos/cirugía , Teratoma/diagnóstico , Teratoma/cirugía

RESUMEN

OBJETIVO:Relatar um caso de teratoma cervical congênito, destacando a gravidade e as dificuldades terapêuticas associadas. DESCRIÇÃO DO CASO: Mãe de 30 anos, com gestação por fertilização assistida. Com 23 semanas, diagnosticada malformação cervical fetal à direita. Parto cesáreo por indicação fetal com 31 semanas. Recém-nascido masculino, peso ao nascer de 1800g, Apgar 4 e 9, com volumoso processo expansivo à direita, ocupando toda a região cervical, comprometendo a mandíbula e estendendo-se para o terço superior do tórax. Com 40 horas de vida, apresentou insuficiência cardíaca congestiva de alto débito por roubo de fluxo pelo tumor. A partir de 54 horas de vida, houve progressiva deterioração hemodinâmica e respiratória, com hipotensão, anúria e labilidade de oxigenação, refratárias às aminas vasoativas, reposição de volume e aumento do suporte ventilatório. Indicada abordagem cirúrgica para ressecção tumoral, todavia o paciente não apresentou estabilidade clínica que permitisse seu transporte ao centro cirúrgico e faleceu com 70 horas de vida. COMENTÁRIOS: O caso demonstra as dificuldades relacionadas à abordagem pós-natal dos teratomas cervicais volumosos. Apesar do diagnóstico pré-natal, o paciente evoluiu com obstrução de vias aéreas, complicada por um choque cardiogênico refratário, que culminou no óbito. A abordagem intraparto é fundamental nesses pacientes, consistindo em exérese tumoral, enquanto a manutenção da circulação materno-fetal permite a oxigenação fetal contínua. A evolução neonatal no caso descrito é condizente com a literatura que mostra prognóstico reservado quando não é realizada a abordagem cirúrgica intraparto.

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OBJECTIVE:To report a case of congenital cervical teratoma, highlighting the severity and the therapeutic difficulties associated. CASE DESCRIPTION: A 30-year old mother, with pregnancy by assisted fertilization. At 23 weeks, a cervical fetal malformation was diagnosed. A cesarean section was indicated with 31 weeks due to fetal distress. A male newborn infant with birth weight of 1800g and Apgar score of 4/9 presented a large right cervical tumor, with extensions to the mandible and to the upper chest. Patient presented congestive heart failure due to flow steal by the tumor 40 hours after birth, which caused progressive respiratory, hemodynamic and renal deterioration refractory to vasopressors, volume replacement and increased ventilatory support. Tumor resection was indicated, but the clinical instability of the patient did not allow his transport to the operating room and the infant died 70 hours after birth. COMMENTS: The case is representative of the difficulties related to postnatal treatment of bulky cervical teratomas. Despite prenatal diagnosis, the patient developed airway obstruction, complicated by refractory cardiogenic shock. The surgical approach during delivery is crucial for survival. Nowadays, management includes surgical removal of the tumor while maintaining the maternal-fetal circulation, allowing continuous fetal oxygenation. The clinical course described in the case is consistent with the literature that reports poor prognosis when the intra-partum surgical approach is not performed.

Asunto(s)

Humanos , Femenino , Embarazo , Recién Nacido , Anomalías Congénitas , Costilla Cervical/anomalías , Teratoma/congénito

Asunto(s)

Cesárea/métodos , Enfermedades Fetales/cirugía , Resultado del Embarazo , Adulto , Oxigenación por Membrana Extracorpórea , Femenino , Neoplasias de Cabeza y Cuello/congénito , Neoplasias de Cabeza y Cuello/cirugía , Hernia Diafragmática/cirugía , Hernias Diafragmáticas Congénitas , Humanos , Histerotomía , Recién Nacido , Micrognatismo/cirugía , Hipotonía Muscular/fisiopatología , Circulación Placentaria , Embarazo , Arteria Pulmonar/anomalías , Respiración Artificial , Teratoma/congénito , Teratoma/cirugía , Útero/fisiopatología

RESUMEN

We report on a case of an congenital orbital tumor of impressive size, occurring in a newborn. The patient underwent orbital exenteration with a histopathologic diagnosis of cystic teratoma. The clinicopathological aspects of such a rare disease are commented.

Asunto(s)

Neoplasias Orbitales/patología , Teratoma/patología , Femenino , Humanos , Recién Nacido , Evisceración Orbitaria , Neoplasias Orbitales/congénito , Neoplasias Orbitales/cirugía , Teratoma/congénito , Teratoma/cirugía

RESUMEN

Apresentamos um caso de tumor orbitário congênito de grande tamanho, ocorrendo em criança recém-nascida. A paciente foi submetida a exenteração da órbita e o diagnóstico anatomopatológico foi de teratoma cístico. Os aspectos clínico-patológicos desta rara doença são comentados.

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We report on a case of an congenital orbital tumor of impressive size, occurring in a newborn. The patient underwent orbital exenteration with a histopathologic diagnosis of cystic teratoma. The clinicopathological aspects of such a rare disease are commented.

Asunto(s)

Femenino , Humanos , Recién Nacido , Neoplasias Orbitales/patología , Teratoma/patología , Evisceración Orbitaria , Neoplasias Orbitales/congénito , Neoplasias Orbitales/cirugía , Teratoma/congénito , Teratoma/cirugía

Asunto(s)

Quiste Dermoide/cirugía , Neoplasias de la Boca/cirugía , Teratoma/cirugía , Quiste Dermoide/congénito , Quiste Dermoide/diagnóstico por imagen , Humanos , Recién Nacido , Masculino , Suelo de la Boca , Neoplasias de la Boca/congénito , Neoplasias de la Boca/diagnóstico por imagen , Radiografía , Teratoma/congénito , Teratoma/diagnóstico por imagen

RESUMEN

CONTEXT: The cervical teratomas are rare, benign tumors, they are formed by the three embryonic layers, and they represent only 6% of teratomas. The prognosis depends mainly on the size and location of the lesion, on the tumor growth rate, and on the level of tracheal compression. Prenatal diagnosis is usually reached with the aid of a two-dimensional ultrasonography (2DUS) after the 15th week of gestation, which shows a large heterogeneous mass in the cervical region, plus a polyhydramnios, on the Doppler mode which also shows the vascularization of the tumor. CASE REPORT: We report a case of cervical teratoma diagnosed on the 31st week of gestation with the aid of a 2DUS and color Doppler mode. We focus on the main findings obtained with the three-dimensional ultrasonography in surface mode, and we highlight the importance of this methodology for the indirect evaluation of the neonatal prognosis.

Asunto(s)

Enfermedades Fetales/diagnóstico por imagen , Neoplasias de Cabeza y Cuello/diagnóstico por imagen , Imagenología Tridimensional/métodos , Teratoma/diagnóstico por imagen , Ultrasonografía Prenatal/métodos , Adulto , Cesárea , Resultado Fatal , Femenino , Enfermedades Fetales/terapia , Edad Gestacional , Neoplasias de Cabeza y Cuello/congénito , Humanos , Polihidramnios/terapia , Embarazo , Teratoma/congénito

RESUMEN

Ilustra un recién nacido del sexo masculino con presencia de una tumoración localizada en hemicara derecha de diez por nueve centímetros de tamaño y que ocupaba la región temporal, parotidea, geniana, maseterina, pre y retro auricular con desplazamiento del pabellón auricular hacia abajo y atrás.

Asunto(s)

Recién Nacido , ADN de Neoplasias/análisis , Teratoma/congénito

RESUMEN

Teratomas are embryonal tumors composed of tissues from all 3 germinal layers with variable levels of maturity. Teratomas are rare in the head and neck region, representing less than 5% of all cases. In the head and neck the most common involved sites are the nasopharynx and cervical regions. Oral teratomas are extremely uncommon, and we found only 21 cases published in the English-language literature. We describe an unusual case of oral teratoma on the right buccal mucosa of a 9-year-old girl.

Asunto(s)

Mucosa Bucal/patología , Neoplasias de la Boca/patología , Teratoma/patología , Niño , Femenino , Humanos , Neoplasias de la Boca/congénito , Teratoma/congénito

RESUMEN

El teratoma sacrococcígeo (TS) es una malformación de muy baja frecuencia y de alta letalidad. El objetivo de este trabajo es presentar un caso clínico de diagnóstico prenatal de teratoma sacrococcígeo, utilizando ultrasonido y resonancia magnética. Paciente de 21 semanas de gestación es enviada para segunda opinión a nuestro centro. Realizamos examen ultrasonográfico que reveló una lesión perineal quística predominante externa de gran tamaño, con componente presacro de menor volumen y escasos vasos sanguíneos en su pared, lo que sugiere el diagnóstico de teratoma quístico. Se realiza resonancia magnética que comprueba el diagnóstico de TS quístico predominantemente externo. El resto de la evaluación anatómica y hemodinámica fue normal. Evoluciona con aumento del tamaño de la lesión, sin complicaciones maternas o fetales. A las 38 semanas de gestación, se realiza operación cesárea que comprueba diagnóstico de TS, y a las 24 horas de vida se efectúa extirpación del tumor en su totalidad con resección del cóccix y parte del sacro, con plastía del defecto remanente. El diagnóstico prenatal de TS quístico, en nuestro caso, mediante el uso de ultrasonido y resonancia magnética permite por una parte predecir una evolución favorable durante la gestación, y por otra, posibilita el manejo multidisciplinario con interrupción programada y cirugía definitiva del TS.

Asunto(s)

Humanos , Femenino , Embarazo , Recién Nacido , Espectroscopía de Resonancia Magnética , Diagnóstico Prenatal , Teratoma , Ultrasonografía Prenatal , Región Sacrococcígea , Teratoma/congénito

Asunto(s)

Neoplasias Cardíacas/diagnóstico por imagen , Pericardio/diagnóstico por imagen , Teratoma/diagnóstico por imagen , Adolescente , Femenino , Neoplasias Cardíacas/congénito , Neoplasias Cardíacas/cirugía , Humanos , Recién Nacido , Masculino , Derrame Pericárdico/diagnóstico por imagen , Pericardiocentesis , Pericardio/cirugía , Embarazo , Teratoma/congénito , Teratoma/cirugía , Ultrasonografía Prenatal

Asunto(s)

Humanos , Recién Nacido , Traumatismos Vertebrales/complicaciones , Complicaciones del Trabajo de Parto , Discapacidades del Desarrollo , Desviación Ósea , Cifosis/congénito , Tubo Neural/anomalías , Teratoma/congénito

RESUMEN

Epignathus is an extremely rare form of teratoma that arises from the palate or pharynx in the region of the basisphenoid (Rathke's pouch). This condition is associated with a high mortality rate caused by severe airway obstruction in the neonatal period, thus requiring prenatal planning and prompt surgical treatment after birth. The authors describe a case of a giant epignathus that was successfully resected followed by an uneventful recovery.

Asunto(s)

Neoplasias Orofaríngeas/congénito , Teratoma/congénito , Humanos , Recién Nacido , Masculino , Neoplasias Orofaríngeas/cirugía , Teratoma/cirugía

RESUMEN

Se presenta el caso clínico de paciente del sexo femenino de 24 horas de nacida, con teratoma de órbita izquierda, diagnosticada por su cuadro clínico radiológico característico y confirmado histopatológicamente, tratado quirúrgicamente con exenteración orbitaria, con seguimiento por nueve meses

Asunto(s)

Humanos , Femenino , Recién Nacido , Enfermedades Orbitales/cirugía , Enfermedades Orbitales/congénito , Enfermedades Orbitales/patología , Teratoma/cirugía , Teratoma/congénito , Teratoma/diagnóstico