RESUMO
INTRODUCTION: Pitt-Hopkins syndrome (PTHS) is a rare genetic syndrome associated with neurodevelopmental disorders and craniofacial dysmorphisms caused by variations in the TCF4 transition factor. The aim of this article was to report the case of two twin infants diagnosed with PTHS, confirmed by the identification of a heterozygous pathogenic variant in the TCF4 gene through DNA extracted from a buccal swab. CASE PRESENTATION: Both infants presented with craniofacial asymmetry with a metopic crest and cranial deformity. During the diagnostic investigation, computed tomography with three-dimensional reconstruction of the skull showed premature fusion of the left coronal and metopic sutures in both twins. They underwent craniofacial reconstruction at the 9th month of age using a combination of techniques. The postoperative outcomes were satisfactory in both cases. CONCLUSION: To the best of our knowledge, this is the first case report to describe the occurrence of complex craniosynostosis (CCS) in children with PTHS. Further studies are needed to determine whether the co-occurrence of PTHS and CCS described here indicates an association or is explained by chance.
Assuntos
Craniossinostoses , Hiperventilação , Deficiência Intelectual , Humanos , Craniossinostoses/cirurgia , Craniossinostoses/diagnóstico por imagem , Craniossinostoses/genética , Craniossinostoses/complicações , Deficiência Intelectual/genética , Hiperventilação/genética , Lactente , Feminino , Masculino , Fator de Transcrição 4/genética , Fácies , Doenças em Gêmeos/cirurgia , Doenças em Gêmeos/diagnóstico por imagem , Tomografia Computadorizada por Raios XRESUMO
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.
Assuntos
Humanos , Feminino , Adolescente , Neoplasias Ovarianas/diagnóstico por imagem , Teratoma/diagnóstico por imagem , Doenças em Gêmeos/diagnóstico por imagem , Neoplasias Ovarianas/cirurgia , Teratoma/cirurgia , Tomografia Computadorizada por Raios X , Doenças em Gêmeos/cirurgia , Recidiva Local de NeoplasiaRESUMO
Abstract Background: Failure of ductus arteriosus closure in preterm neonates results in a left-to-right shunt that leads to variable severities of hemodynamic and respiratory distress. When medical therapy fails, surgical ligation via left lateral thoracotomy remains an alternative approach and can be performed in the operating room or at the bedside with a low mortality rate. Opioid-based anesthesia is a frequent choice among anesthesiologists who manage patent ductus arteriosus cases based on the suppression of the stress response and maintenance of hemodynamic stability. This rationale suggests that regional anesthesia may also be an advantageous technique and may benefit earlier weaning from ventilation. Blocking afferent signals before incision may also modulate the long-term consequences of altered sensory perception and pain responses. Case report: We present two cases of general anesthesia combined with erector spinae plane block as part of multimodal anesthesia in premature twins undergoing patent ductus arteriosus closure. Discussion: In these cases, the use of erector spine plane block combined with general anesthesia was efficient to minimize the negative impact of surgery and allowed a reduction in the amount of intraoperative opioid use for patent ductus arteriosus closure.
Resumo Justificativa: A persistência do canal arterial em neonatos prematuros resulta em shunt esquerdo-direito com alterações hemodinâmicas e desconforto respiratório de gravidade variável. Quando o tratamento clínico não é bem sucedido, o fechamento cirúrgico via toracotomia lateral esquerda continua sendo a abordagem alternativa, e pode ser realizado no centro cirúrgico ou à beira leito com baixa taxa de mortalidade. A anestesia baseada em opioides é frequentemente escolhida pelos anestesiologistas nos casos de fechamento de canal arterial devido à supressão de resposta ao estresse e manutenção da estabilidade hemodinâmica. Essa justificativa sugere que a anestesia regional também pode ser uma técnica vantajosa e que promove desmame mais precoce do ventilador. O bloqueio dos estímulos aferentes antes da incisão também pode modular os efeitos no longo-prazo, tanto da percepção sensorial quanto das respostas à dor. Relato de caso: Apresentamos dois casos de anestesia geral associada a bloqueio do plano do músculo eretor da espinha como parte de anestesia multimodal em gêmeos prematuros submetidos a fechamento de canal arterial persistente. Discussão: Nos dois casos descritos, o bloqueio do plano do músculo eretor da espinha associado à anestesia geral foi eficiente para minimizar o impacto negativo da cirurgia, e possibilitou a redução na quantidade de opioide usado durante cirurgia para fechamento de persistência canal arterial.
Assuntos
Humanos , Masculino , Lactente , Doenças em Gêmeos/cirurgia , Permeabilidade do Canal Arterial/cirurgia , Anestesia Geral , Bloqueio Nervoso/métodos , Recém-Nascido Prematuro , Músculos Paraespinais/inervaçãoRESUMO
BACKGROUND: Failure of ductus arteriosus closure in preterm neonates results in a left-to-right shunt that leads to variable severities of hemodynamic and respiratory distress. When medical therapy fails, surgical ligation via left lateral thoracotomy remains an alternative approach and can be performed in the operating room or at the bedside with a low mortality rate. Opioid-based anesthesia is a frequent choice among anesthesiologists who manage patent ductus arteriosus cases based on the suppression of the stress response and maintenance of hemodynamic stability. This rationale suggests that regional anesthesia may also be an advantageous technique and may benefit earlier weaning from ventilation. Blocking afferent signals before incision may also modulate the long-term consequences of altered sensory perception and pain responses. CASE REPORT: We present two cases of general anesthesia combined with erector spinae plane block as part of multimodal anesthesia in premature twins undergoing patent ductus arteriosus closure. DISCUSSION: In these cases, the use of erector spinae plane block combined with general anesthesia was efficient to minimize the negative impact of surgery and allowed a reduction in the amount of intraoperative opioid use for patent ductus arteriosus closure.
Assuntos
Anestesia Geral , Doenças em Gêmeos/cirurgia , Permeabilidade do Canal Arterial/cirurgia , Bloqueio Nervoso/métodos , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Masculino , Músculos Paraespinais/inervaçãoRESUMO
OBJECTIVE: To describe perinatal outcomes achieved with cord occlusion (CO) in monochorionic twins with severe selective intrauterine growth restriction (sIUGR) and abnormal umbilical artery Doppler in the IUGR twin (types II and III). METHODS: We studied a consecutive series of 90 cases of sIUGR with abnormal Doppler treated with CO of the IUGR fetus. Abnormal Doppler was defined as continuous (type II, n = 41) or intermittent (type III, n = 49) absent/reversed end-diastolic flow. All cases presented at least one of the following severity criteria: gestational age (GA) <22 weeks, inter-twin estimated weight discordance >35%, reversed end-diastolic umbilical artery flow or ductus venosus pulsatility index >95th centile. We prospectively recorded pregnancy course and perinatal outcome. RESULTS: Median GA at surgery was 20.6 weeks and mean duration 22.4 min. Miscarriage (<24 weeks) occurred in 3.3% (3/90) and preterm delivery <32 weeks in 7.1% (6/84) of continuing pregnancies. GA at delivery was 36.4 weeks and neonatal survival of the larger twin was achieved in 93.3%. CONCLUSION: In a consecutive series studied by an experienced team, CO in monochorionic twins with severe sIUGR type II or III was associated with delivery >32 weeks in 92.9% and neonatal survival of the normal twin in 93.3% of pregnancies.
Assuntos
Doenças em Gêmeos/cirurgia , Retardo do Crescimento Fetal/cirurgia , Oclusão Terapêutica , Artérias Umbilicais/cirurgia , Cordão Umbilical/cirurgia , Peso ao Nascer , Feminino , Fetoscopia , Idade Gestacional , Humanos , Recém-Nascido , Gravidez , Resultado da Gravidez , Estudos Prospectivos , Ultrassonografia Pré-Natal , Cordão Umbilical/patologiaRESUMO
Renal transplantation without maintenance immunosuppression has been sporadically reported in the literature. The cases include non-adherent patients who discontinued their immunosuppressive medications, transplantation between identical twins, kidney transplantation after a successful bone marrow graft from the same donor and simultaneous bone marrow and kidney transplantation for the treatment of multiple myeloma with associated renal failure. There are also ongoing clinical trials designed to induce donor specific transplant tolerance with infusion of hematopoietic cells from the same kidney donor. Here we describe two cases of renal transplantation without immunosuppression as examples of situations described above.
Assuntos
Transplante de Medula Óssea , Doenças em Gêmeos/cirurgia , Transplante de Rim , Insuficiência Renal/cirurgia , Adulto , Feminino , Humanos , Resultado do Tratamento , Gêmeos MonozigóticosRESUMO
Resumo Pacientes que receberam transplantes renais sem imunossupressão de manutenção têm sido esporadicamente relatados. Os casos incluem relatos de pacientes não aderentes que suspenderam a medicação imunossupressora, transplantes entre gêmeos monozigóticos, transplante renal após um bem sucedido transplante de medula óssea do mesmo doador e transplante simultâneo de medula óssea e rim para tratamento de pacientes com mieloma múltiplo com insuficiência renal associada. Existem, atualmente, ensaios clínicos em andamento com o propósito de induzir tolerância imunológica específica ao doador utilizando a infusão de células hematopoiéticas do mesmo doador do enxerto renal. A seguir, descrevemos dois casos de transplante renal sem imunossupressão como exemplos de situações descritas acima.
Abstract Renal transplantation without maintenance immunosuppression has been sporadically reported in the literature. The cases include non-adherent patients who discontinued their immunosuppressive medications, transplantation between identical twins, kidney transplantation after a successful bone marrow graft from the same donor and simultaneous bone marrow and kidney transplantation for the treatment of multiple myeloma with associated renal failure. There are also ongoing clinical trials designed to induce donor specific transplant tolerance with infusion of hematopoietic cells from the same kidney donor. Here we describe two cases of renal transplantation without immunosuppression as examples of situations described above.
Assuntos
Humanos , Feminino , Adulto , Transplante de Medula Óssea , Doenças em Gêmeos/cirurgia , Transplante de Rim , Insuficiência Renal/cirurgia , Resultado do Tratamento , Gêmeos MonozigóticosRESUMO
We present the case of twin brothers with open physes who practiced judo to a high level and were operated on the same day for anterior cruciate ligament reconstruction. One of them was injured a year before surgery, and the other was injured a month before the procedure. The brother who chose to undergo a conservative treatment sustained meniscus injury afterwards and showed lower objective results when evaluated 5 years after surgery.
Assuntos
Lesões do Ligamento Cruzado Anterior , Ligamento Cruzado Anterior/patologia , Ligamento Cruzado Anterior/cirurgia , Reconstrução do Ligamento Cruzado Anterior/métodos , Doenças em Gêmeos/cirurgia , Seguimentos , Humanos , Imageamento por Ressonância Magnética , Masculino , Artes Marciais/lesões , Fatores de Tempo , Resultado do Tratamento , Gêmeos Monozigóticos , Adulto JovemRESUMO
UNLABELLED: Sacrococcygeal teratoma tumors are more frequent in infants alive. It is characterized by its benign histology in the majority of the cases diagnosed prenatally; it is necessary to follow narrow to prevent neonatal complications that can lead to urinary tract complications and fecal, high-output heart failure, hydrops and, in extreme cases, the death of the fetus. CASE REPORT: Primigravidae 30 years old, with gestation twins, bicorial, biamniotic in the first trimester of pregnancy to one of the twins is diagnosed sacrococcygeus teratoma giant, with favorable monitoring in the maternal-fetal Medicine Unit of the University Hospital of La Paz in Madrid, and with postnatal resection surgery successful. We review the diagnostic procedures and treatment of this tumor in unique and twin gestations.
Assuntos
Doenças em Gêmeos/diagnóstico , Neoplasias de Tecidos Moles/diagnóstico , Teratoma/diagnóstico , Adulto , Doenças em Gêmeos/cirurgia , Feminino , Humanos , Recém-Nascido , Gravidez , Gravidez de Gêmeos , Região Sacrococcígea , Neoplasias de Tecidos Moles/cirurgia , Teratoma/cirurgiaRESUMO
BACKGROUND: Aplasia cutis congenita (ACC) is a rare disease of unknown etiology, involving any site of the body. The scalp is the most frequent location, followed by the forearms, knees, both sides of the trunk, and neck, in decreasing order of frequency. Superficial lesions may heal spontaneously and seldom result in morbidity or mortality. However, in patients with large scalp and skull defects, there are risks of infection and bleeding. Conservative treatment has been described and advocated, but some authors have highlighted the disadvantages of this treatment modality. On the other hand, several authors claim that aggressive surgical treatment has an important role for large defects. MATERIALS AND METHODS: In this paper, we report three newborns with ACC of the scalp, two large defects and a medium one, respectively, treated conservatively and surgically. CONCLUSION: The management of ACC of the scalp is still controversial. Our series suggests that conservative treatment should be performed for initial management in newborns.
Assuntos
Transplante Ósseo , Displasia Ectodérmica/cirurgia , Couro Cabeludo/anormalidades , Transplante de Pele , Retalhos Cirúrgicos , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/mortalidade , Pré-Escolar , Doenças em Gêmeos/diagnóstico , Doenças em Gêmeos/mortalidade , Doenças em Gêmeos/cirurgia , Displasia Ectodérmica/diagnóstico , Displasia Ectodérmica/genética , Displasia Ectodérmica/mortalidade , Feminino , Humanos , Processamento de Imagem Assistida por Computador , Imageamento Tridimensional , Lactente , Recém-Nascido , Doenças do Prematuro/diagnóstico , Doenças do Prematuro/mortalidade , Doenças do Prematuro/cirurgia , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/mortalidade , Couro Cabeludo/patologia , Couro Cabeludo/cirurgia , Taxa de Sobrevida , Tomografia Computadorizada por Raios XRESUMO
Severe aplastic anemia is a rare syndrome characterized by bone marrow failure with cytopenias and hypocellular bone marrow biopsy (usually 10-15%), without blasts or myelodysplasia. The first choice treatment for these patients is allogene-ic bone marrow transplantation from a sibling matched for HLA-A, HLA-B y HLA-DR. Unfortunately only 30% of patients have an HLA-matched sibling (a 25% chance per sibling). The alternative treatment for severe aplastic anemia for the rest of the patients (70%) is immunosuppression with antithymocyte globuline and cyclosporine. The evolution of bone marrow transplantation since 1970's has been positive in terms of survival and transplant success (initial overall survival 43% vs. 90% lately, and graft rejection of 29% vs. 4%). The favorable outcome of bone marrow transplantation for severe or very severe aplastic anemia is due to: the use of conditioning with antithymocyte globuline and cyclophosphamide, the use of graft-vs.-host disease prophylaxis with short curse methotrexate and cyclosporine and the use of filtrated and irradiated blood products. For those patients without an HLA-matched related donor the first treatment to use is the immunosuppression with antithymocyte globuline and cyclosporine. Another option emerged in the late 80's is the unrelated bone marrow transplantation, with survival hardly half of the HLA-identical related bone marrow transplants. In our country, the first allogeneic bone marrow transplant was done in the Instituto Nacional de Ciencias Médicas y Nutrición, Salvador Zubirán, in a patient with aplastic anemia, making possible to perform this procedure safely in our country.
La anemia aplástica grave (AAG) es una enfermedad poco frecuente caracterizada por un síndrome de falla medular con citopenias periféricas y médula ósea hipo o acelular, en ausencia de blastos y de mielodisplasia. El tratamiento de elección es el trasplante alogénico de médula ósea de donador relacionado. Este procedimiento sólo es posible en 30% de los pacientes, ya que el resto no cuenta con un donador. La otra alternativa de tratamiento es la inmunosupresión combinada, a base de ciclosporina A y globulina antitimocito (GAT). El trasplante alogénico de donador relacionado en AAG ha evolucionado favorablemente desde sus inicios en la década de los 70 a la fecha (supervivencia global inicial de 43% versus 90% actualmente, frecuencia de rechazo del injerto de 29 a 4%). Los factores que han condicionado este avance son: la utilización de acondicionamiento a base de ciclofosfamida/GAT, la utilización de profilaxis injerto contra huésped con ciclosporina A y metotrexato en curso corto (que han permitido una disminución en la tasa de rechazo y de enfermedad injerto contra huésped aguda) y la utilización de productos sanguíneos radiados y filtrados que disminuyen la sensibilización del receptor a antígenos menores de histocompatibilidad. Para aquellos pacientes que no cuentan con un donador HLA idéntico relacionado, la primera opción de tratamiento es la inmunosupresión combinada, sin embargo, desde finales de los 80s el trasplante alogénico de donadores no relacionados surgió como una opción de tratamiento, aunque sus resultados hasta hoy son inferiores a los obtenidos con trasplante alogénico de donador relacionado. En nuestro país se llevó a cabo el primer trasplante de médula ósea en el Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, lo que demostró que es factible realizar este procedimiento en nuestro medio.
Assuntos
Adolescente , Adulto , Criança , Humanos , Pessoa de Meia-Idade , Anemia Aplástica/cirurgia , Transplante de Células-Tronco Hematopoéticas , Academias e Institutos/estatística & dados numéricos , Transplante de Medula Óssea/estatística & dados numéricos , Suscetibilidade a Doenças , Doenças em Gêmeos/cirurgia , Rejeição de Enxerto , Doença Enxerto-Hospedeiro/etiologia , Hospedeiro Imunocomprometido , Terapia de Imunossupressão/efeitos adversos , Terapia de Imunossupressão/métodos , México/epidemiologia , Neoplasias/etiologia , Sistema de Registros/estatística & dados numéricos , Doadores de Tecidos , Transplante Homólogo , Transplante Isogênico , Gêmeos MonozigóticosRESUMO
Severe aplastic anemia is a rare syndrome characterized by bone marrow failure with cytopenias and hypocellular bone marrow biopsy (usually 10-15%), without blasts or myelodysplasia. The first choice treatment for these patients is allogeneic bone marrow transplantation from a sibling matched for HLA-A, HLA-B and HLA-DR. Unfortunately only 30% of patients have an HLA-matched sibling (a 25% chance per sibling). The alternative treatment for severe aplastic anemia for the rest of the patients (70%) is immunosuppression with antithymocyte globuline and cyclosporine. The evolution of bone marrow transplantation since 1970's has been positive in terms of survival and transplant success (initial overall survival 43% vs. 90% lately, and graft rejection of 29% vs. 4%). The favorable outcome of bone marrow transplantation for severe or very severe aplastic anemia is due to: the use of conditioning with antithymocyte globuline and cyclophosphamide, the use of graft-vs.-host disease prophylaxis with short curse methotrexate and cyclosporine and the use of filtrated and irradiated blood products. For those patients without an HLA-matched related donor the first treatment to use is the immunosuppression with antithymocyte globuline and cyclosporine. Another option emerged in the late 80's is the unrelated bone marrow transplantation, with survival hardly half of the HLA-identical related bone marrow transplants. In our country, the first allogeneic bone marrow transplant was done in the Instituto Nacional de Ciencias Médicas y Nutrición, Salvador Zubirán, in a patient with aplastic anemia, making possible to perform this procedure safely in our country.