RESUMO

ABSTRACT Objective: To verify the prevalence and perform the clinical characterization of oral clefts in a sample of patients with trisomy of chromosome 18 in Southern Brazil. Methods: This was a retrospective cross-sectional study, performed in a reference clinical genetic service in Southern Brazil. The initial sample consisted of 77 patients diagnosed in the neonatal period with trisomy 18 treated at the Clinical Genetics Service of a referral hospital at Federal University of Health Sciences of Porto Alegre (UFCSPA). The patients' diagnosis was confirmed by karyotype and care was provided during their stay in the intensive care unit (ICU) of the hospital that is a reference in Southern Brazil for care for malformed patients. The period covered was from 1975 to 2020. Results: During the study period, 77 patients diagnosed with trisomy 18 were treated, most of them in the ICU. Of these, 13 individuals were excluded due to incomplete data. The final sample consisted of 64 patients with an average age of 2.4 years of life, ranging from one day to 16 years old, the majority of whom were female. Regarding face dysmorphisms identified in the sample, three (4,68%) patients had cleft lip and two (3,11%) had cleft lip and palate. Conclusions: This study contributed to the recognition of the characteristics and prevalence of oral clefts in individuals with trisomy 18 in a sample of patients from Southern Brazil. In addition, we described the clinical alterations found in patients with oral clefts, as well as other associated comorbidities, such as cardiac, neurological and pulmonary comorbidities, as well as cranial and facial dysmorphisms.

RESUMO Objetivo: Verificar a prevalência e realizar a caracterização clínica das fissuras orais em uma amostra de pacientes com trissomia do cromossomo 18 no sul do Brasil. Métodos: Este foi um estudo transversal retrospectivo, realizado em um serviço de referência em genética clínica do sul do Brasil. A amostra inicial foi composta de 77 pacientes com diagnóstico no período neonatal de trissomia 18 atendidos no Serviço de Genética Clínica da Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA). O diagnóstico dos pacientes foi confirmado por cariótipo e os atendimentos foram realizados durante sua internação na unidade de terapia intensiva (UTI) de hospital de referência no sul do Brasil para atendimento em pacientes malformados. O período abrangido foi de 1975 a 2020. Resultados: Durante o período do estudo foram atendidos, a maioria na UTI do hospital, 77 pacientes com diagnóstico de trissomia do cromossomo 18. Destes, 13 indivíduos foram excluídos por apresentarem dados incompletos. A amostra final foi de 64 pacientes, com idade média de 2,4 anos de vida, variando de um dia de vida a 16 anos, a maioria do sexo feminino. Com relação aos dismorfismos faciais identificados na amostra, três (4,68%) pacientes apresentavam fissuras labiais e dois (3,11%) fissuras labiopalatinas. Conclusões: Este estudo trouxe como contribuições o reconhecimento das características e a prevalência das fendas orais nos indivíduos com trissomia do cromossomo 18 em uma amostra de pacientes do sul do Brasil. Além disso, descrevemos as alterações clínicas encontradas em pacientes com fissuras orais, bem como outras comorbidades associadas, como comorbidades cardíacas, neurológicas e pulmonares, além de dismorfismos cranianos e faciais.

RESUMO

El Síndrome de Edwards o trisomía 18 es un trastorno cromosómico autosómico que se caracteriza por la presencia de un cromosoma 18 extra, completo, parcial o en mosaico. La prevalencia de esta trisomía en recién nacidos se calcula entre 1 en 6000 a 1 en 8000, siendo la segunda alteración cromosómica autosómica en frecuencia después de la trisomía 21. Se describe un caso de trisomía 18 valorada ecográficamente y confirma por estudio genético. Se trata de una paciente de 26 años de edad primigesta, a la que se realiza estudio ecográfico de screening de cromosomopatías, donde se evidencia ausencia de hueso nasal, quiste de cordón umbilical, ante el riesgo moderado para trisomía 21 se realiza DNA fetal en sangre materna, con resultado de trisomía 18, razón por la cual se decide la interrupción del embarazo por mal pronóstico fetal. Se revisaron aspectos de la frecuencia etiología, diagnóstico y pronóstico de la trisomía 18.

RESUMO

El objetivo del trabajo es analizar dos conductas médicas opuestas en la vida prenatal de los niños con trisomía 18: el aborto y los cuidados paliativos perinatales. Se realizó una búsqueda bibliográfica en PubMed a partir de los términos "trisomy 18", "abortion" y "palliative care". Actualmente, están cambiando las conductas médicas dirigidas a los niños nacidos con trisomía 18, debido a que ya no se la considera una enfermedad incompatible con la vida. Este cambio de paradigma en la conducta médica posnatal debería reflejarse en la conducta prenatal, para ofrecer a los padres alternativas distintas al aborto. Los cuidados paliativos fetales y perinatales constituyen una respuesta ética válida para el tratamiento de niños con trisomía 18.

This article intends to analyze two opposing medical behaviors in the prenatal life of children with trisomy 18: abortion and perinatal palliative care. A literature search was carried out in PubMed using the terms "trisomy 18," "abortion," and "palliative care." Medical behaviors toward children born with trisomy 18 are changing because it is no longer considered a disease incompatible with life. This paradigm shift in postnatal medical conduct should be reflected in prenatal behavior to offer parents alternatives to abortion. Fetal and perinatal palliative care is a valid ethical response for treating children with trisomy 18.

O objetivo deste trabalho é analisar duas condutas médicas opostas na vida pré-natal das crianças com trissomia 18: o aborto e os cuidados paliativos perinatais. Foi realizada uma busca bibliográfica no PubMed a partir dos termos "trisomy 18", "abortion" e "palliative care". Atualmente, as condutas médicas para com as crianças nascidas com trissomia 18 estão mudando devido a não ser considerada mais como uma doença incompatível com a vida. Essa mudança de paradigma na conduta médica pós-natal deveria ser refletida na conduta pré-natal, para oferecer aos pais alternativas diferentes do aborto. Os cuidados paliativos fetais e perinatais constituem uma resposta ética válida para tratar crianças com trissomia 18.

RESUMO

RESUMEN El síndrome de Edwards o síndrome de trisomía 18 es un trastorno cromosómico autosómico que se caracteriza por la presencia de un cromosoma 18 extra, con rasgos clínicos distintivos. Se presenta un caso con diagnóstico prenatal basados en la ecografía morfológica obstétrica que condujeron a la realización ecocardiografía fetal donde resalta la displasia de la válvula pulmonar con doble lesión y la comunicación interventricular. Posteriormente se realiza cordocentesis para realización del cariotipo y asesoramiento genético.

ABSTRACT Edwards' syndrome, or trisomy 18 syndrome, is an autosomal chromosomal disorder characterized by the presence of an extra chromosome 18, with distinctive clinical features. We present a case with a prenatal diagnosis based on obstetrical morphological ultrasound that led to the performance of a fetal echocardiography with findings of a pulmonary valve dysplasia with double injury and interventricular communication. Subsequently, cordocentesis is performed for karyotyping and genetic counseling.

RESUMO

Antecedentes: El Síndrome de Edwards o trisomía 18, es una anomalía cromosómica o aneuploidía caracterizada por la presencia de una copia adicional del cromosoma 18. Se asocia con una alta tasa de mortalidad, siendo muy escasas las probabilidades de supervivencia más allá de las semanas o del año de edad. Sin embargo, existen casos que llegan a sobrevivir más tiempo, pero con retraso mental severo, problemas de salud y de desarrollo, y por ende una calidad de vida muy baja. En este artículo se informa un caso de trisomía 18 de larga sobrevida con el propósito de aportar información sobre la etiología, el fenotipo, la sobrevida y el consejo genético. Descripción de Caso: Paciente de sexo femenino nacida en 2010 con un cariotipo realizado en 20 células que mostraron 47,XX+18 en todas las metafases. Con talla y peso bajos para su edad, facies dismórficas, retardo severo del desarrollo psicomotor y cognitivo, imposibilidad para alimentarse, ausencia de lenguaje verbal y sordera neurosensorial. Conclusión: El conocimiento de las manifestaciones clínicas y el pronóstico del paciente con trisomía 18 es de gran importancia para el cuidado neonatal y la toma de decisiones para realizar procedimientos invasivos, como cirugía de corazón o resucitación cardiopulmonar. El diagnóstico temprano es importante para la toma de decisiones médicas...(AU)

Assuntos

RESUMO

Introducción El síndrome de trisomía 18 (T18) ocurre por la presencia de un cromosoma 18 extra completo en la mayoría de los casos. La prevalencia en recién nacidos oscila entre uno en 6.000 a uno en 8.000. Los afectados tienen una elevada mortalidad, solo el 4% supera el primer año de vida. Son pocos los casos reportados que superan los 5 años. Objetivo El objetivo de este artículo es reportar un caso de T18 de larga sobrevida con características en la cavidad oral no descritas en la literatura, y aportar información a médicos y pediatras sobre la etiología, el fenotipo, la sobrevida y el consejo genético. Reporte de caso Paciente de sexo femenino de 7 años con 2 cariotipos realizados en cultivo de linfocitos que mostraron 47,XX+18 en todas las metafases. Con talla y peso bajos, facies dismórficas, retardo severo del desarrollo psicomotor y cognitivo, imposibilidad para alimentarse, ausencia del lenguaje verbal, sordera neurosensorial, marcha atáxica, hipoplasia cerebelosa; genitales con labios mayores y menores hipoplásicos. En la cavidad oral paladar en forma de cúpula, macroglosia, no se observaron incisivos centrales superiores y primeros molares superiores e inferiores. En las radiografías se encuentran hallazgos de formación de las piezas dentales ausentes en la boca, concluyéndose erupción tardía. Conclusiones En los casos de T18 la mortalidad in útero y neonatal es alta, las características clínicas in útero y en recién nacidos han sido bien descritas. Dado que son pocos los casos que superan los 5 años el fenotipo aún está por establecerse. En la paciente aquí reportada se encontraron hallazgos en la cavidad oral no descritos en la literatura.

Introduction The trisomy 18 syndrome occurs due to the presence of an extra chromosome 18 in most cases. The prevalence in infants is estimated at 1:6000 to 1:8000. Those affected have a high mortality rate, only 4% may survive their first year of life. There are few reported cases exceeding five years of age. Objective The aim of this paper is to report a case of trisomy 18 of long survival with oral cavity features not described in the literature, and to provide information to physicians and paediatricians about aetiology, phenotype, survival and genetic counselling. Case report A 7 year-old female patient with 2 karyotypes performed by lymphocyte culture showing 47XX+18 in all metaphases. She presented with growth deficiency, dysmorphic facies, severe psychomotor retardation and cognitive disability, inability to feed, lack of verbal language, sensorineural hearing loss, ataxia, cerebellar hypoplasia, and genitals with hypoplastic labia majora and minora. In the oral cavity: dome shaped palate, macroglossia, absence of upper central incisors and first upper and lower molars in mouth. X-ray findings showed formation of missing teeth, with late eruption being concluded. Conclusions In cases of trisomy 18 syndrome there is an increased risk of neonatal and infant mortality. The clinical characteristics in utero and in neonates have been well described. Since few cases exceeding five years of age have been reported, the phenotype is yet to be established. In the case being reported we describe oral cavity findings not documented in the literature.

Assuntos

RESUMO

INTRODUCTION: The trisomy 18 syndrome occurs due to the presence of an extra chromosome 18 in most cases. The prevalence in infants is estimated at 1:6000 to 1:8000. Those affected have a high mortality rate, only 4% may survive their first year of life. There are few reported cases exceeding five years of age. OBJECTIVE: The aim of this paper is to report a case of trisomy 18 of long survival with oral cavity features not described in the literature, and to provide information to physicians and paediatricians about aetiology, phenotype, survival and genetic counselling. CASE REPORT: A 7 year-old female patient with 2 karyotypes performed by lymphocyte culture showing 47XX+18 in all metaphases. She presented with growth deficiency, dysmorphic facies, severe psychomotor retardation and cognitive disability, inability to feed, lack of verbal language, sensorineural hearing loss, ataxia, cerebellar hypoplasia, and genitals with hypoplastic labia majora and minora. In the oral cavity: dome shaped palate, macroglossia, absence of upper central incisors and first upper and lower molars in mouth. X-ray findings showed formation of missing teeth, with late eruption being concluded. CONCLUSIONS: In cases of trisomy 18 syndrome there is an increased risk of neonatal and infant mortality. The clinical characteristics in utero and in neonates have been well described. Since few cases exceeding five years of age have been reported, the phenotype is yet to be established. In the case being reported we describe oral cavity findings not documented in the literature.

Assuntos

RESUMO

RESUMEN Se presenta un caso de síndrome de Edwards, por sospecha ecográfica desde la semana 18 de gestación, con seguimiento ecográfico 2D, 3D y 4D, confirmado por cariotipo post natal. Óbito 48 hs post nacimiento.

ABSTRACT An Edwards’ case is presented, because of an ultrasound suspicion since the 18th gestation week, with an ultrasound follow-up using 2D, 3D and 4D, confirmed by post natal karyotype. Fetus died after 48 hours of its birth.

Assuntos

RESUMO

Se expone el caso clínico de una gestación gemelar bicorial biamniótica que dio lugar a la muerte fetal espontánea del segundo gemelo a las 16 semanas, por lo que curso desde el segundo trimestre con feto papiráceo. La causa de la muerte se atribuyó al diagnóstico de Síndrome de Edwards, cromosomopatía de muy mal pronóstico en la vida intrauterina y perinatal, con tasas de mortalidad intraútero de hasta el 80% de los casos. El segundo gemelo se obtuvo sin complicaciones estructurales y no se documentó repercusión en la madre; a pesar de que la bibliografía científica indica un mayor riesgo de morbimortalidad del gemelo vivo, la gestación y el parto cursaron sin complicaciones.

It was presented a case report of a dichorinic diamniotic twin pregnancy in which there was spontaneous fetal death of the second twin at 16 weeks, so on going since the second trimester with papyraceus fetus. The cause of death of the fetus was attributed to Edwards Syndrome, chromosomal disease with poor prognosis in intrauterine and perinatal life, intrauterine mortality rates of up to 80% of cases.The second twin was obtained without structural complications and no documented impact on the mother.Although described in the literature an increased risk of morbidity and mortality of the living twin, this case pregnancy and childbirth progressed without complications.

RESUMO

Se presenta el caso de una recién nacida con una doble trisomía, con complemento cromosómico 48,XXX,+18, con fenotipo de síndrome de Edwards (trisomía 18). Las características clínicas fueron restricción del crecimiento intrauterino, facies dismórfca, mano con sobreposición de dedos, comunicación interventricular, estenosis pulmonar y pie equinovaro izquierdo. Se realiza una revisión de la bibliografía y discusión de los casos previamente comunicados.(AU)

We report the case of a newborn girl with a double trisomy, with a chromosome complement 48,XXX,+18, with Edwards syndrome phenotype (trisomy 18). The clinical feature included intrauterine growth retardation, dysmorphic facies, hand with overlapping fngers, ventricular septal defect, pulmonary stenosis and left clubfoot. A review of the literature and discussion of previously reported cases is made.(AU)

Assuntos

RESUMO

Se presenta el caso de una recién nacida con una doble trisomía, con complemento cromosómico 48,XXX,+18, con fenotipo de síndrome de Edwards (trisomía 18). Las características clínicas fueron restricción del crecimiento intrauterino, facies dismórfca, mano con sobreposición de dedos, comunicación interventricular, estenosis pulmonar y pie equinovaro izquierdo. Se realiza una revisión de la bibliografía y discusión de los casos previamente comunicados.

We report the case of a newborn girl with a double trisomy, with a chromosome complement 48,XXX,+18, with Edwards syndrome phenotype (trisomy 18). The clinical feature included intrauterine growth retardation, dysmorphic facies, hand with overlapping fngers, ventricular septal defect, pulmonary stenosis and left clubfoot. A review of the literature and discussion of previously reported cases is made.

Assuntos

RESUMO

El síndrome de Edwards es originado por un desbalance cromosómico representado por una trisomía 18. Alrededor de 95 por ciento de los pacientes corresponden a trisomía completa, donde están presentes múltiples malformaciones en órganos y sistemas. El 5 por ciento restante pertenece a trisomía parcial o mosaicismo, con un fenotipo incompleto por la ausencia de algunas anomalías típicas del síndrome. La inmunodeficiencia es una manifestación poco frecuente del síndrome Edwards. Se presenta el caso de una paciente de 9 meses de edad con trisomía 18 parcial e infecciones severas recurrentes desde la etapa neonatal, asociadas a anemia, linfopenia, trombocitopenia y neutrofilia. La ecografía mostró una hipoplasia del timo. Se encontraron cifras disminuidas de linfocitos TCD4+, CD8+ y de células asesinas naturales. La cuantificación de linfocitos B fue normal. Se hallaron concentraciones normales de inmunoglobulinas séricas IgM e IgG y disminuidas de IgA. Se encontró una disminución de la actividad hemolítica total de la vía clásica del complemento. No se encontraron alteraciones en la función opsonofagocítica. Se diagnosticó una inmunodeficiencia combinada asociada, hecho que demostró la heterogeneidad de la expresión clínica del síndrome Edwards y la relación entre el defecto cromosómico y la formación del sistema inmune en el período intrauterino(AU)

Edwards' syndrome is caused by a chromosomal imbalance represented by trisomy 18. Complete trisomy accounts for 95 percent of patients who present multiple malformations in organs and systems. The remaining 5 percent presents partial trisomy or mosaicism, with incomplete phenotype due to lack of some typical anomalies of this syndrome. Immunodeficiency is a rare manifestation of Edwards' syndrome. The case of a 9-months old female patient with partial trisomy 18 and recurrent severe infections since the neonatal phase, all associated to anemia, lymphopenia, thrombocytopenia and neutrophilia, was presented in this paper. The echographic test indicated tymus hypoplasia. There were reduced numbers of TCD4+, CD8+ lymphocytes and of natural killer cells. The lymphocyte B count was normal. Normal concentrations of serum IgM and IgG immunoglobulins as well as decreased concentrations of IgA were found. The total hemolytic activity of the classical complement pathway declined. No alteration was found in the opsonocytophagic function. The diagnosis was associated combined immunodeficiency, which proved the heterogeneity of the clinical expression of Edwards' syndrome and the relationship between the chromosomal defect and the formation of immune system in the intrauterine period(AU)

Assuntos

RESUMO

El síndrome de Edwards es originado por un desbalance cromosómico representado por una trisomía 18. Alrededor de 95 por ciento de los pacientes corresponden a trisomía completa, donde están presentes múltiples malformaciones en órganos y sistemas. El 5 por ciento restante pertenece a trisomía parcial o mosaicismo, con un fenotipo incompleto por la ausencia de algunas anomalías típicas del síndrome. La inmunodeficiencia es una manifestación poco frecuente del síndrome Edwards. Se presenta el caso de una paciente de 9 meses de edad con trisomía 18 parcial e infecciones severas recurrentes desde la etapa neonatal, asociadas a anemia, linfopenia, trombocitopenia y neutrofilia. La ecografía mostró una hipoplasia del timo. Se encontraron cifras disminuidas de linfocitos TCD4+, CD8+ y de células asesinas naturales. La cuantificación de linfocitos B fue normal. Se hallaron concentraciones normales de inmunoglobulinas séricas IgM e IgG y disminuidas de IgA. Se encontró una disminución de la actividad hemolítica total de la vía clásica del complemento. No se encontraron alteraciones en la función opsonofagocítica. Se diagnosticó una inmunodeficiencia combinada asociada, hecho que demostró la heterogeneidad de la expresión clínica del síndrome Edwards y la relación entre el defecto cromosómico y la formación del sistema inmune en el período intrauterino

Edwards' syndrome is caused by a chromosomal imbalance represented by trisomy 18. Complete trisomy accounts for 95 percent of patients who present multiple malformations in organs and systems. The remaining 5 percent presents partial trisomy or mosaicism, with incomplete phenotype due to lack of some typical anomalies of this syndrome. Immunodeficiency is a rare manifestation of Edwards' syndrome. The case of a 9-months old female patient with partial trisomy 18 and recurrent severe infections since the neonatal phase, all associated to anemia, lymphopenia, thrombocytopenia and neutrophilia, was presented in this paper. The echographic test indicated tymus hypoplasia. There were reduced numbers of TCD4+, CD8+ lymphocytes and of natural killer cells. The lymphocyte B count was normal. Normal concentrations of serum IgM and IgG immunoglobulins as well as decreased concentrations of IgA were found. The total hemolytic activity of the classical complement pathway declined. No alteration was found in the opsonocytophagic function. The diagnosis was associated combined immunodeficiency, which proved the heterogeneity of the clinical expression of Edwards' syndrome and the relationship between the chromosomal defect and the formation of immune system in the intrauterine period

Assuntos

RESUMO

Introdução: a síndrome de Edwards, ou trissomia do 18, é uma anomalia cromossômica rara e frequentemente fatal. Os pacientes que sobrevivem têm múltiplas malformações, que resultam em risco anestésico aumentado, mesmo em cirurgias de menor porte. Objetivo: discutir o uso da anestesia caudal, em associação com anestesia geral, como técnica anestésica e analgésica para cirurgia abdominal em criança portadora de síndrome de Edwards. Relato do caso: criança de 75 dias de idade, 2,9 kg, com diagnóstico de síndrome de Edwards e cardiopatia congênita, foi submetida à correção de refluxo gastroesofágico sob anestesia geral combinada ao bloqueio peridural caudal com bupivacaína 0,125%, morfina e clonidina. A anestesia geral foi mantida com sevoflurano, sem a necessidade do uso endovenoso de opioides. O paciente manteve estabilidade durante todo o procedimento cirúrgico. No final da cirurgia, o anestésico inalatório foi suspenso e a paciente foi extubada na sala de ciurgia após 17 minutos. O pós-operatório foi realizado em centro de terapia intensiva, sem intercorrências e sem a necessidade do uso suplementar de analgésicos. Conclusão: a anestesia geral inalatória combinada com o bloqueio caudal mostrou-se técnica anestésica segura e satisfatória em crianças com síndrome de Edwards.

Introduction: Edwards syndrome or trisomy 18 is a rare and often fatal chromosome abnormality. Patients who survive are dysmorphic with multiple malformations leading to an increase anesthetic risk even during small surgery. Objective: to discuss the use of caudal anesthesia combined with general anesthesia as an anesthetic and analgesic technique for abdominal surgery in a child with Edwards?s syndrome. Case report: a girl with 75-day-old, 2.9 kg, with Edward?s syndrome and congenital heart disease who underwent surgical correction of gastroesophageal reflux with combined caudal-general anaesthesia using 0.125% bupivacaine, morphine and clonidine. General anesthesia was maintained with sevoflurane and no opioid was used. Throughout the procedure, no major changes in the monitored parameters were recorded. At the completion of the procedure, the inhalational agent was discontinued and the patient was extubated in the operating room after 17 min. The postoperative period at the intensive care unit was uneventful and no postoperative analgesics were necessary. Conclusion: inhalatory general anesthesia associated with caudal anesthesia seems to be a good and safe technique in children with Edwards?s syndrome.

Assuntos