RESUMO
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.
Assuntos
Neoplasias Orbitárias , Teratoma , Humanos , Teratoma/cirurgia , Teratoma/congênito , Teratoma/diagnóstico por imagem , Teratoma/patologia , Neoplasias Orbitárias/cirurgia , Neoplasias Orbitárias/congênito , Neoplasias Orbitárias/diagnóstico por imagem , Neoplasias Orbitárias/patologia , Imageamento por Ressonância Magnética , alfa-Fetoproteínas/metabolismo , Tomografia Computadorizada por Raios X , Feminino , Masculino , Recém-NascidoRESUMO
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.
Assuntos
Anormalidades Craniofaciais , Humanos , Masculino , Criança , Agenesia do Corpo Caloso , Fissura Palatina , Dente Supranumerário/diagnóstico por imagem , Dente Supranumerário/cirurgia , Teratoma/congênito , Teratoma/cirurgia , Teratoma/diagnóstico por imagem , Hipertelorismo , Anormalidades Múltiplas , Cavidade Nasal/anormalidades , Cavidade Nasal/diagnóstico por imagemRESUMO
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
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
Assuntos
Humanos , Recém-Nascido , Neoplasias Nasais/congênito , Neoplasias Nasais/diagnóstico por imagem , Neoplasias Nasais/patologia , Neoplasias Nasais/cirurgia , Nariz/anormalidades , Cisto Dermoide/congênito , Encefalocele/congênito , Glioma/congênito , Granuloma/congênito , Hamartoma/congênito , Hemangioma/congênito , Nariz/patologia , Nariz/cirurgia , Rabdomiossarcoma/congênito , Teratoma/congênitoRESUMO
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.
Assuntos
Fenda Labial/cirurgia , Fissura Palatina/cirurgia , Neoplasias Maxilares/cirurgia , Neoplasias Primárias Múltiplas/cirurgia , Neoplasias Orbitárias/cirurgia , Procedimentos de Cirurgia Plástica/métodos , Teratoma/cirurgia , Fenda Labial/complicações , Fissura Palatina/complicações , Humanos , Lactente , Masculino , Neoplasias Maxilares/complicações , Neoplasias Maxilares/congênito , Neoplasias Primárias Múltiplas/complicações , Neoplasias Primárias Múltiplas/congênito , Neoplasias Orbitárias/complicações , Neoplasias Orbitárias/congênito , Teratoma/complicações , Teratoma/congênitoRESUMO
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.
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.
Assuntos
Doenças Fetais/diagnóstico , Diagnóstico Pré-Natal , Teratoma/diagnóstico , Feminino , Doenças Fetais/patologia , Doenças Fetais/cirurgia , Humanos , Recém-Nascido , Masculino , México , Gravidez , Região Sacrococcígea , Teratoma/congênito , Teratoma/cirurgiaRESUMO
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.
Assuntos
Síndrome do Nevo Basocelular/complicações , Síndrome do Nevo Basocelular/genética , Carcinoma Basocelular/complicações , Carcinoma Basocelular/genética , Mutação da Fase de Leitura , Síndrome do Hamartoma Múltiplo/complicações , Síndrome do Hamartoma Múltiplo/genética , Neoplasias Orbitárias/etiologia , Receptores de Superfície Celular/genética , Teratoma/etiologia , Adolescente , Síndrome do Nevo Basocelular/diagnóstico , Encéfalo/patologia , Carcinoma Basocelular/diagnóstico , Análise Mutacional de DNA , Mutação em Linhagem Germinativa , Síndrome do Hamartoma Múltiplo/diagnóstico , Humanos , Masculino , Neoplasias Orbitárias/congênito , Neoplasias Orbitárias/diagnóstico , Receptores Patched , Receptor Patched-1 , Radiografia Panorâmica , Teratoma/congênito , Teratoma/diagnóstico , Tomografia Computadorizada por Raios XRESUMO
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.
Assuntos
Neoplasias de Tecidos Moles/congênito , Teratoma/congênito , Humanos , Prognóstico , Região Sacrococcígea , Neoplasias de Tecidos Moles/diagnóstico , Neoplasias de Tecidos Moles/cirurgia , Teratoma/diagnóstico , Teratoma/cirurgiaRESUMO
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.
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.
Assuntos
Humanos , Feminino , Gravidez , Recém-Nascido , Anormalidades Congênitas , Costela Cervical/anormalidades , Teratoma/congênitoAssuntos
Cesárea/métodos , Doenças Fetais/cirurgia , Resultado da Gravidez , Adulto , Oxigenação por Membrana Extracorpórea , Feminino , Neoplasias de Cabeça e Pescoço/congênito , Neoplasias de Cabeça e Pescoço/cirurgia , Hérnia Diafragmática/cirurgia , Hérnias Diafragmáticas Congênitas , Humanos , Histerotomia , Recém-Nascido , Micrognatismo/cirurgia , Hipotonia Muscular/fisiopatologia , Circulação Placentária , Gravidez , Artéria Pulmonar/anormalidades , Respiração Artificial , Teratoma/congênito , Teratoma/cirurgia , Útero/fisiopatologiaRESUMO
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.