Diagnóstico, manejo y tratamiento actual del mielomeningocele fetal / Current diagnosis, management and treatment of fetal myelomeningocele

Introducción: El mielomeningocele fetal, es la extrusión de la médula espinal que ocurre por un cierre incompleto del neuróporo caudal, lo cual expone la placa neural al trauma mecáni-co y químico de la pared uterina y líquido amniótico respectivamente, con graves secuelas. La detección prenatal innovó el diagnóstico y con ello la reparación intra útero ha mejora-do estrategias del tratamiento, generando opciones de atención en aquellas pacientes que cumplen con los criterios de selección para cirugía prenatal. Objetivo: Presentar una revisión bibliográfica sobre diagnóstico, manejo y tratamiento del mielomeningocele fetal y ofrecer a la comunidad científica una herramienta de consulta para mejorar los conocimientos del tema y alternativas de tratamiento oportuno para los fetos con esta malformación.Material y Métodos: Se trata de un estudio de revisión sistemática sin metaanálisis, realiza-do en base a las recomendaciones PRISMA. La búsqueda de información se estructuró bajo el sistema PICO. Las búsquedas se realizaron en Pubmed, Tripdatabase y Pubmed Central; seleccionando artículos publicados durante los últimos diez años en inglés o español, sobre diagnóstico, manejo y tratamiento del mielomeningocele fetal. Resultados: 120 artículos cumplieron con criterios de búsqueda, de los cuáles fueron ele-gibles 42, con información relevante para determinar el diagnóstico, manejo y tratamiento actual del mielomeningocele fetal a través de procedimientos innovadores.Discusión: Los defectos del tubo neural aparecen como consecuencia de una alteración del proceso de neurulación entre el día 21-28 después de la concepción. El mielomeningocele fetal es considerado el defecto congénito no letal más común del SNC. Se caracteriza por la protrusión de las meninges y la médula espinal con daño neurológico permanente. Por ello el diagnóstico y manejo oportuno de esta patología, han permitido que la cirugía fetal intra útero se considere el método óptimo, mejorando la hernia del rombencéfalo, reduciendo la necesidad de una derivación ventricular y manteniendo la motricidad inferior, así como la función neuronal, vesical y gastrointestinal, mejorando la calidad de vida del paciente afecto por esta patología

Introduction: Fetal myelomeningocele is spinal cord extrusion that occurs due to the caudal neuropore incomplete closure, which exposes the neural plate to mechanical and chemical trauma to the uterus wall and amniotic fluid respectively, with serious sequelae. Prenatal detection innovated the diagnosis and with this intra-uterine repair has improved treatment strategies, generating care options in those patients who comply the selection criteria for prenatal surgery.Objective: Submit a bibliographic review on the diagnosis, management and treatment of fetal myelomeningocele and to offer the scientific community a consultation tool to improve knowledge of the subject and timely treatment alternatives for fetuses with this malformation.Materials and Methods: This is a systematic review study without meta-analysis, based on the PRISMA recommendations. The information search was structured under the PICO sys-tem. The searches were carried out in Pubmed, Tripdatabase and Pubmed Central; selecting articles published during the last ten years in English or Spanish, on diagnosis, management and treatment of fetal myelomeningocele.Results: 120 articles met the search criteria, of which 42 were eligible, with relevant informa-tion for determining the current diagnosis, management and treatment of fetal myelomenin-gocele through innovative procedures.Discussion: Neural tube defects appear as a consequence of an alteration of the neurula-tion process between days 21-28 after conception. MMCf is considered the most common non-fatal congenital defect of the CNS. It is characterized by protrusion of the meninges and spinal cord with permanent neurological damage. For this reason, the diagnosis and timely management of this pathology have allowed intra utero fetal surgery to be considered the optimal method, improving rhombencephalon hernia, reducing the need for a ventricular shunt and maintaining the lower motor skills, as well as neuronal, bladder and gastrointestinal function, improving the quality of life of the patient affected by this pathology.

Actualización del diagnóstico prenatal y cirugía fetal del mielomeningocele / Update on prenatal diagnosis and fetal surgery for myelomeningocele

A partir del estudio seminal Management of Myelomeningocele Study en el año 2011, el cual demostró que la reparación prenatal del defecto del mielomeningocele antes de la semana 26 mejoraba los resultados neurológicos, la cirugía fetal fue incorporada dentro de las opciones de estándar de cuidado. Así, el diagnóstico prenatal del mielomeningocele dentro de la ventana terapéutica se convirtió en un objetivo obligatorio y, por ello, se intensificó la investigación de estrategias de tamizaje, sobre todo, en el primer trimestre. Además, se desarrollaron distintas técnicas de cirugía fetal para mejorar los resultados neurológicos y disminuir los riesgos maternos. El objetivo de la siguiente revisión es actualizar los avances en tamizaje y diagnóstico prenatal en el primer y segundo trimestre, y en cirugía fetal abierta y fetoscópica del mielomeningocel

A seminal study titled Management of Myelomeningocele Study, from 2011, demonstrated that prenatal myelomeningocele defect repaired before 26 weeks of gestation improved neurological outcomes; based on this study, fetal surgery was introduced as a standard of care alternative. Thus, prenatal myelomeningocele diagnosis within the therapeutic window became a mandatory goal; therefore, research efforts on screening strategies were intensified, especially in the first trimester. In addition, different fetal surgery techniques were developed to improve neurological outcomes and reduce maternal risks. The objective of this review is to provide an update on the advances in prenatal screening and diagnosis during the first and second trimesters, and in open and fetoscopic fetal surgery for myelomeningocele

Corrección de mielomeningocele intrautero: Reporte del primer caso en Ecuador / Case report: First intrauterine myelomeningocele correction in Ecuador

This is the case of a 26 year old patient, at week 27 of gestational age and with a prenatal diagnosis of myelomeningocele. It was decided to enter the clinic to perform the first correction of the spina bifida defect in Ecuador, with the support of a multidisciplinary team of national and foreign professionals. This procedure was carried out within international parameters and standards for the management of this pathology, with the equipment, supplies and trained personnel to carry this surgery to a successful outcome, both for the fetus and its mother. It is demonstrated that our country has the capacity of both human resources and equipment to solve highly complex pathologies.

Se trata del caso de una paciente de 26 años, en la semana 27 de edad gestacional y con un diagnóstico prenatal de mielome- ningocele. Se decide ingresar a la clínica para realizar la primera corrección de defecto de espina bífida del Ecuador, con apoyo de un equipo multidisciplinario de profesionales nacionales y extranjeros. Este procedimiento se llevó a cabo dentro de parámetros y estándares internacionales de manejo de esta patología, contando con los equipos, insumos y el personal capacitado para llevar esta cirugía a un desenlace exitoso, tanto para el feto como su madre. Queda demostrado que en nuestro país se cuenta con la capacidad tanto de recursos humanos y equipos para resolver patologías de gran complejidad.

Anestesia para reparación antenatal de mielomeningocele: Presentación de un caso / Anesthesia for myelomenigocele antenatal repair: Case report

INTRODUCTION: The advance in the methods of prenatal diagnosis and surgical techniques have allowed the development of fetal surgery, achieving identification and early treatment of anomalies invalidating extrauterine life. Myelomeningocele (MMC) is the most frequent neural tube defect and its intrauterine correction has demonstrated benefits. OBJECTIVE: To publicize the anesthetic management of a prenatal correction of MMC performed in a public hospital in Chile. CASE REPORT: 31-year-old woman, pregnancy of 25 weeks of gestational age, fetus carrying MMC lumbosacral, who underwent open correction. Procedure performed with incidents under general anesthesia with remifentanil and sevoflorane MAC in 2 and tocolytic prophylaxis. At 48 hours post operative, he presented an acute pulmonary edema compatible (EPA), which was successfully resolved with depletive therapy for 24 hours in the Intensive Care Unit, without the need for mechanical ventilation or use of vasoactive drugs. Discharged one week later in good condition, with interruption of pregnancy by elective caesarean section at 37 weeks, with a newborn without stigmas of neurological sequelae. CONCLUSIONS: The mother-fetus binomial is a challenge for the anesthetist. In intrauterine surgery the need for knowledge about the pharmacology of tocolytics, placental uterine physiology and the complications of the procedure are added.

INTRODUCCIÓN: El avance en los métodos de diagnóstico prenatal y las técnicas quirúrgicas han permitido el desarrollo de la cirugía fetal, logrando identificación y tratamiento precoz de anomalías invalidantes para la vida extrauterina. El mielomeningocele (MMC) es el defecto del tubo neural más frecuente y su corrección intrauterina tiene beneficios demostrados. OBJETIVO: Dar a conocer el manejo anestésico de una corrección prenatal de MMC realizada en un hospital público de Chile. CASO CLÍNICO: Mujer de 31 años, embarazo de 25 semanas de edad gestacional, feto portador de MMC lumbosacro, que se sometió a una corrección por vía abierta. Procedimiento realizado con incidentes bajo anestesia general con remifentanilo y sevoflorano MAC en 2 y profilaxis tocolítica. A las 48 horas postoperatorias presentó cuadro compatible con edema pulmonar agudo (EPA), que se resolvió exitosamente con terapia depletiva por 24 horas en Unidad de Cuidados Intensivos, sin necesidad de ventilación mecánica ni uso de drogas vasoactivas. Dada de alta una semana después en buenas condiciones. El embarazo se interrumpió por cesárea electiva a las 37 semanas, con un recién nacido sin estigmas de secuela neurológica. CONCLUSIONES: El binomio madre-feto es un reto para el anestesista. En cirugía intraútero se suma la necesidad de conocimientos sobre la farmacología de los tocolíticos, fisiología útero placentaria y las complicaciones propias del procedimiento.

Cirugía precoz en la prevención de la sepsis del recién nacido con mielomeningocele / Precocious surgery in preventing the sepsis of newborn with meningomyelocele

El mielomeningocele es una malformación congénita por defecto del cierre del tubo neural, se produce en las primeras semanas de crecimiento intrauterino. Consiste en una masa quística que incluye tejido nervioso y meninges, acompañadas de una fusión incompleta de los arcos vertebrales. Produce severos daños neurales y puede asociarse a otras malformaciones. Su reparación, en las primeras horas de vida, es necesaria para evitar complicaciones que pueden comprometer la vida del niño o causar mayor discapacidad. Se reportó un caso de un recién nacido con diagnóstico de mielomeningocele fisurado, a nivel lumbar. Se intervino quirúrgicamente en las primeras 6 h de vida; se disecó el saco dural y se separaron las raíces, logrando el cierre completo de la duramadre. Se reparó la piel con afrontamiento de los bordes y adecuada cicatrización de la herida. Fue aplicada antibioticoterapia profiláctica con cefalosporina de tercera generación. El infante egresó a los 10 días de operado sin complicaciones neuroquirúgicas asociadas (AU).

Meningomyelocele is a congenital malformation by defect of neural tube closing, produced in the first weeks of intrauterine grow. It is a cystic mass that includes nervous tissues and meninges, together with an incomplete fusion of the vertebral arches. It produces severe neural damages and could be associated to other malformations. It is necessary to repair it during the first hours after birth to avoid complications that could compromise the child’s life or cause more disability. The case of a new-born child diagnosed with fissured meningomyelocele at the lumbar level is presented. He was operated in the first six hours after birth; the dural sac was dissected and the roots separated, reaching the complete dura mater closure. The skin was repaired with edges affronting and adequate wound healing. Prophylactic antibiotic therapy with third generation cephalosporin was applied. The child was discharged 10 days alter the surgery without associated neurosurgical complications (AU).

Surgical technique of retrograde ventricle-sinus shunt is an option for the treatment of hydrocephalus in infants after surgical repair of myelomeningocele / A derivação ventrículo-sinusal retrógrada é uma opção para o tratamento de hidrocefalia em lactentes após correção de mielomeningocele

ABSTRACT Introduction Treatment of hydrocephalus is accomplished primarily through a ventricular-peritoneal shunt (VPS). This study aims to describe the application of retrograde ventricle-sinus shunt (RVSS) in patients with hydrocephalus after surgical treatment of myelomeningocele. Method A prospective, randomized and controlled pilot study. We consecutively enrolled 9 patients with hydrocephalus after surgical repair of myelomeningocele from January 2010 to January 2012. These patients underwent elective RVSS or VPS. Five underwent RVSS and 4 underwent VPS. Patients were followed for one year with quarterly evaluations and application of transcranial Doppler. Results RVSS group showed outcomes similar to those of VPS group. Doppler revealed significant improvement when comparing preoperative to postoperative period. RVSS group had significantly higher cephalic perimeter than VPS group. Neuropsychomotor development, complications and subjective outcomes did not differ between groups. Conclusion RVSS shunt is viable; it is an alternative option for the treatment of hydrocephalus.

RESUMO O tratamento da hidrocefalia é realizado principalmente através de uma derivação ventrículo-peritoneal (DVP). Nosso objetivo é descrever a aplicação da derivação ventrículo-sinusal retrógrada (DVSR) em pacientes com hidrocefalia após o tratamento cirúrgico de mielomeningocele. Método Estudo prospectivo, randomizado e controlado. Selecionados consecutivamente 9 pacientes com hidrocefalia após correção cirúrgica de mielomeningocele de janeiro de 2010 a janeiro de 2012. Eles foram submetidos à DVSR ou DVP. Cinco foram submetidos à DVSR e 4 à DVP. Foram seguidos por 1 ano com realização trimestral de avaliações e aplicação do Doppler transcraniano. Resultados O grupo DVSR apresentou desfechos semelhantes ao grupo DVP. O Doppler mostrou melhora significativa quando comparado o pré-operatório com o pós-operatório. O grupo DVSR apresentou perímetro cefálico significativamente maior que o grupo DVP. O desenvolvimento neuropsicomotor e complicações não diferiram entre os grupos. Conclusão A derivação ventrículo-sinusal retrógrada é viável; ela é uma opção para o tratamento de hidrocefalia.

Kyphectomy in patients with myelomeningocele: surgical results and complications / Cifosectomia em pacientes com mielomeningocele: resultados cirúrgicos e complicações / Cifosectomía en pacientes con mielomeningocele: resultados quirúrgicos y complicaciones

Objectives:The lumbar kyphosis in patients with myelomeningocele is a complex deformity whose treatment is mainly surgical. The objective of this study is to summarize the results and complications obtained by the group in 2012 with respect to this group of patients.Method:Performed a retrospective analysis of the medical records and radiographs of patients consecutively operated in 2012. The technique was originally described by Dunn-McCarthy and consists of kyphectomy and posterior fixation using S-shaped Luque rods through the foramina of S1 associated with pedicle screws in the thoracic spine.Results:Six patients were included in the study. The age at surgery was 11 years and 7±22 months and the weight was 29.1±11.9 kg. The procedure lasted 271±87 minutes, with the removal of one or two (mean 1.5) vertebrae from the apex of the kyphosis. Hospitalization time was 10±9 days. The lumbar kyphosis measuring 116.3±37 degrees preoperatively was reduced to 62.5±21 degrees. All patients began to sit without support and to lie in the supine position. Four patients developed postoperative infection and required surgical debridement at the follow-up. One patient had the implant removed after a year due to loosening of the rod in the sacrum.Conclusion:The surgical technique allows excellent functional results in the correction of lumbar kyphosis in patients with myelomeningocele despite high complication rates. It is necessary to conduct studies with a larger number of patients and duration of follow-up to assess whether the use of pedicle screws will decrease the rate of loosening and pseudoarthrosis.

Objetivos:A cifose lombar em pacientes com mielomeningocele é uma deformidade complexa cujo tratamento é eminentemente cirúrgico. O objetivo deste estudo é resumir os resultados e complicações obtidos pela equipe, em 2012, com relação a esse grupo de pacientes.Método:Foi feita análise retrospectiva dos prontuários e radiografias de pacientes operados consecutivamente em 2012. A técnica utilizada foi descrita originalmente por Dunn-McCarthy e consiste em cifosectomia e fixação posterior utilizando-se hastes moldadas em "S" através dos forames de S1 associados a parafusos pediculares na coluna torácica.Resultados:Foram incluídos seis pacientes no estudo. A idade à realização da cirurgia foi de 11 anos e 7 ± 22 meses e o peso foi 29,1 ± 11,9 kg. O procedimento durou 271 ± 87 minutos, com a retirada de uma ou duas (média de 1,5) vértebras do ápice da cifose. O tempo de internação foi de 10 ± 9 dias. A cifose lombar que media 116,3 ± 37 graus no pré-operatório foi reduzida para 62,5 ± 21 graus. Todos os pacientes passaram a sentar sem apoio e a deitar na posição supina. Quatro pacientes evoluíram com infecção pós-operatória e necessitaram de limpeza cirúrgica no seguimento. Um paciente teve o implante retirado após um ano, devido à soltura da haste no sacro.Conclusão:A técnica cirúrgica utilizada permite resultados funcionais excelentes na correção da cifose lombar em pacientes com mielomeningocele, apesar das altas taxas de complicações. É preciso realizar estudos com maior número de pacientes e tempo de seguimento para se avaliar se a utilização de parafusos pediculares diminuirá a taxa de soltura e pseudoartrose.

Objetivos:La cifosis lumbar en pacientes con mielomeningocele es una deformidad compleja cuyo tratamiento es principalmente quirúrgico. El objetivo de este estudio es resumir los resultados y complicaciones obtenidos por el equipo en 2012, con respecto a este grupo de pacientes.Método:Se realizó un análisis retrospectivo de las historias clínicas y las radiografías de los pacientes intervenidos consecutivamente en 2012. La técnica fue descrita originalmente por Dunn-McCarthy y constituye en cifosectomía y fijación posterior con los tallos en forma de "S" a través de los forámenes de S1 asociados con tornillos pediculares en la columna torácica.Resultados:Se incluyeron 6 pacientes en el estudio. La edad a la cirugía fue de 11 años y 7 ± 22 mmeses y el peso fue 29,1 ± 11,9 kg. El procedimiento duró 271 ± 87 minutos, con la eliminación de una o dos (media 1,5) vértebras desde el ápice de la cifosis. El tiempo de hospitalización fue de 10 ± 9 días. La cifosis lumbar midiendo 116,3 ± 37 grados antes de la operación se redujo a 62,5 ± 21 grados. Todos los pacientes empezaron a sentarse sin apoyo y acostarse en la posición supina. Cuatro pacientes desarrollaron infección postoperatoria y requirieron limpieza quirúrgica en el seguimiento. Un paciente tuvo el implante retirado después de un año debido al aflojamiento del tallo en el sacro.Conclusión: La técnica quirúrgica utilizada permite excelentes resultados funcionales en la corrección de la cifosis lumbar en pacientes con mielomeningocele a pesar de altas tasas de complicaciones. Es necesario realizar estudios con mayor número de pacientes y tiempo de seguimiento para evaluar si el uso de tornillos pediculares puede reducir el aflojamiento y la pseudoartrosis.

Cirugía fetal del mielomeningocele / Fetal surgery for myelomeningocele

El Mielomeningocele (MMC) es una malformación congénita frecuente asociada a morbimortalidad importante. El manejo post natal estándar no ha ofrecido cambios significativos en sus resultados en los últimos años. La publicación del MOMS (Management of Myelomeningocele study) en 2011 demostró que la cirugía fetal del MMC disminuía la necesidad de derivativa de líquido cefalorraquídeo, revertía la herniación del tronco cerebral y mejoraba la calidad de la marcha a los 30 meses de vida, a pesar de un mayor número de parto prematuro y complicaciones maternas. Estos resultados motivaron a nuestro grupo a iniciar una experiencia en cirugía fetal del MMC. Este trabajo generó un protocolo de manejo en Clínica Las Condes contabilizando a la fecha 26 casos operados con resultados alentadores. Los avances en esta técnica siguen adelante en pos de disminuir la incidencia de parto prematuro, abriendo la posibilidad al tratamiento intrauterino de otras patologías.

Myelomeningocele (MMC), is a common congenital malformation associated with significant morbidity and mortality. The standard postnatal management has offered no significant changes in its results in the last years. The publication of the MOMS (Management of Myelomeningocele study) in 2011 showed that fetal surgery for MMC decreased the need for shunt of cerebrospinal fluid, reversed brainstem herniation and improved ride quality at 30 months, despite a greater number of premature delivery and maternal complications. These results encourage our group to start an experience in fetal surgery for MMC. This work generated a management protocol at Clínica Las Condes accounting to date 26 cases operated with encouraging results. The advances in this technique are continuing towards reducing the incidence of premature delivery and opening the possibility of intrauterine treatment for other fetal pathologies.

Programa de diagnóstico y tratamiento fetal. Estudio de cohorte sobre su efectividad en la evolución de neonatos con patologías quirúrgicas / Program for prenatal diagnosis and treatment: A cohort study on effectivity on the outcome of newborns with surgical pathologies

Introducción. El diagnóstico prenatal de las malformaciones congénitas (MC) permite optimizar el cuidado perinatal. Al Hospital Garrahan (HG) ingresan recién nacidos (RN) con MC para tratamiento quirúrgico. Desde el año 2008 funciona el programa de diagnostico y tratamiento fetal (PDTF) para optimizar el cuidado prenatal y perinatal de RN con MC. El objetivo del estudio es evaluar el impacto de la derivación prenatal en RN que ingresan a la unidad de cuidados intensivos neonatales (UCIN) del HG por MC seleccionadas. Población y Métodos: estudio observacional analítico y comparativo entre grupos, sobre condición de ingreso y evolución de RN con gastrosquisis (GTQ), mielomeningocele (MMC) y hernia diafragmática (HD) y grado de stress parental, según ingreso a UCIN por derivación prenatal o postnatal. Se realizó análisis bivariado, descriptivo y comparativo de indicadores generales y especiales de cuidado. Resultados: Se incluyeron 164 RN (44 con derivación prenatal a través del PDTF). Este grupo presentó: mejor control del embarazo (93% vs 66%, p: 0.04), menor edad gestacional al diagnóstico (24s vs 33s p=0.0006) y mayor tasa de cesárea electiva (95 vs 47%, p=0.0001). Los RN tuvieron menor necesidad de reanimación e ingresaron más tempranamente a la Unidad (mediana 4hs vs 10hs, p=0,004). Hubo menor stress parental en relación al hijo (17 vs 40%). Los RN con GTQ ingresaron mejor curados y se alimentaron por vía enteral más rápidamente. Conclusión: Los RN con MC derivados prenatalmente a través del PDTF, ingresan precozmente y presentaron mejores estrategias de cuidado que los ingresados por derivación habitual (AU)

Introduction. Prenatal diagnosis of congenital malformations (CM) improve perinatal care. At the Garrahan Hospital (GH) newborns (NB) with CM are admitted for surgical treatment. Since 2008 a program for prenatal diagnosis and treatment (PDT) has been in place to optimize prenatal and perinatal care of NB with CM. The aim of this study was to assess the impact of prenatal referral of NB that are admitted to the GH for selected CM. Population and Methods: An observational, analytical, and between-group comparative study was conducted on the status on admission and outcome in NB with gastroschisis (GS), myelomeningocele (MMC), and diaphragmatic hernia (DH) and degree of parental stress, according to NICU admission after prenatal or postnatal referral. Bivariate, descriptive and comparative analysis of general and specific markers of care was performed. Results: 164 NB were included (44 were prenatally referred through the PDT program). The latter group presented with better pregnancy control (93% vs 66%, p: 0.04), younger gestational age at diagnosis (24w vs 33w p=0.0006), and higher rate of elective cesarean section (95 vs 47%, p=0.0001). This group of NB needed less reanimation and were admitted to the NICU earlier (∑4hs vs 10hs, p=0.004). Parental child-related stress was less (17 vs 40%). NB with GS had a better surgical outcome and were started on enteral feeding earlier. Conclusion: NB with CM that were prenatally referred through the PDT program, were admitted earlier and could be managed with better strategies than those who were conventionally referred (AU)

Improvement of motor function and decreased need for postnatal shunting in children who had undergone intrauterine myelomeningocele repair / Melhora em função motora e necessidade reduzida de shunts pós-natais em crianças submetidas a cirurgia fetal uterina da mielomeningocele

Objective To compare neuromotor development between patients who did and those who did not undergo intrauterine myelomeningocele repair. Methods Children with myelomeningocele aged between 3.5 and 6 years who did undergo intrauterine repair (Group A, n=6) or not (Group B; n=7) were assessed for neuromotor development at both anatomical and functional levels, need for orthoses, and cognitive function. Results Intrauterine myelomeningocele repair significantly improved motor function. The functional level was higher than the anatomical level by 2 or more spinal segments in all children in Group A and 2 children in Group B, with a significant statistical difference between groups (p<0.05). Five children in Group A and one in Group B were community ambulators. Conclusion Despite the small sample, it was observed that an improvement of motor function and decreased need for postnatal shunting in the 6 children who had undergone intrauterine myelomeningocele repair. .

Objetivo Comparar o desenvolvimento neuromotor de pacientes submetidos à cirurgia fetal intrauterina da mielomeningocele ao de pacientes não submetidos ao procedimento. Métodos Foram avaliados: o desenvolvimento neuromotor (descrevendo o nível anatômico e motor funcional), o tipo de marcha, a necessidade de órteses e o nível cognitivo de crianças com mielomeningocele entre 3,5 e 6 anos de idade, submetidas (Grupo A; n=6) ou não submetidas (Grupo B; n=7) à cirurgia fetal intra-uterina. Resultados A função motora apre-sentou melhora significante, com nível funcional mais elevado em dois ou mais segmentos em relação ao nível anatômico em todas as crianças do Grupo A e em duas crianças do Grupo B, com diferença estatística entre os grupos (p<0.05). Cinco crianças do Grupo A e uma do grupo B eram deambuladoras comunitárias. Conclusão Apesar da pequena amostragem, nos 6 casos de cirurgia prenatal observouse melhora da função motora e menor necessidade de shunts pós-natais. .

Agenesia sacra asociada a disrrafismo espinal e hidrocefalia / Sacra agenesia associated to spinal dysraphism and hydrocephaly

Introducción: la agenesia sacra es una malformación congénita rara que forma parte del síndrome de regresión caudal. Se caracteriza por un grupo de anomalías en las cuales la columna caudal está ausente. Esta enfermedad es la malformación más frecuente en los hijos de madres diabéticas, además se ha relacionado con otros factores predisponentes, como deficiencias de ácido fólico, de vitaminas, uso de insulina en el embarazo, e incluso, la hipoxia. Entre un 30-40 por ciento de pacientes con agenesia sacra completa, pueden tener asociado un mielomeningocele, y el desplazamiento de las raíces nerviosas empeora los trastornos neurológicos. En estos casos, la hidrocefalia, muchas veces también asociada a malformación Chiari tipo II, está ya presente al nacer. Caso clínico: se presenta el caso de un neonato con agenesia sacra asociada a disrrafismo espinal e hidrocefalia. La intervención quirúrgica fue precoz, se le colocó derivación ventrículo peritoneal y se realizó la reparación del defecto del tubo neural. La evolución posoperatoria fue favorable, aunque persistieron los déficits neurológicos preoperatorios. Conclusiones: no se hallaron factores predisponentes en este paciente y el análisis del cariotipo fue normal. Las anomalías óseas de miembros inferiores fueron las más llamativas, así como la presencia de hidrocefalia asociada a malformación Chiari tipo II y mielomeningocele. El tratamiento a estos casos requiere de un enfoque multidisciplinar, y la reparación quirúrgica del mielomeningocele debe ser precoz para conseguir una evolución favorable. Las formas graves pueden ocasionar una muerte temprana neonatal, en cambio, los niños que sobreviven, generalmente presentan inteligencia normal

Introduction: sacra agenesia is a rare congenital malformation as part of the caudal regression syndrome. It is characterized by a group of anomalies in which the caudal cord is absent. This disease is the most common malformation found in children from diabetic mothers but it has also been related to other predisposing factors such as folic acid deficiencies, vitamin deficiencies, use of insulin at pregnancy and even hypoxia. Thirty to forty percent of patients with complete sacra agenesia can also have myelomeningocele, and the displacement of nerve roots worsens the neurological disorders. In these cases, hydrocephaly, many times associated to Chiari malformation type II, is also present at birth. Clinical case: a neonate with sacra agenesia associated to spinal dysraphism and hydrocephaly. Surgical intervention was performed early, a peritoneal ventricular derivation was placed and the neural tube defect was repaired. The post-surgery evolution was favorable, but the preoperative neurological deficits persisted. Conclusions: there were no predisposing factors in this patient and the analysis of the cariotype was normal. The bone anomalies of the lower members were the most remarkable aspects as well as the hydrocephaly associated to Chiari malformation type II and myelomeningocele. The treatment of these cases requires multidisciplinary approach and surgical repair of the myelomeningocele at early phase to achieve favorable evolution. The most severe forms can cause early neonatal death; however, those surviving children generally present normal intelligence coefficient

Comparison between two surgical techniques for prenatal correction of meningomyelocele in sheep / Comparação entre duas técnicas cirúrgicas de correção intrauterina da mielomeningocele em fetos de ovelha

OBJECTIVE: To compare the classical neurosurgical technique with a new simplified technique for prenatal repair of a myelomeningocelelike defect in sheep. METHODS: A myelomeningocele-like defect (laminectomy and dural excision) was created in the lumbar region on day 90 of gestation in 9 pregnant sheep. Correction technique was randomized. In Group 1 the defect was corrected using the classic neurosurgical technique of three-layer suture (dura mater, muscle and skin closure) performed by a neurosurgeon. In Group 2, a fetal medicine specialist used a biosynthetic cellulose patch to protect the spinal cord and only the skin was sutured above it. Near term (day 132 of gestation) fetuses were sacrificed for pathological analysis. RESULTS: There were two miscarriages and one maternal death. In total, six cases were available for pathological analysis, three in each group. In Group 1, there were adherence of the spinal cord to the scar (meningo-neural adhesion) and spinal cord architecture loss with posterior funiculus destruction and no visualization of grey matter. In Group 2, we observed in all cases formation of a neo-dura mater, separating the nervous tissue from adjacent muscles, and preserving the posterior funiculus and grey matter. CONCLUSION: The new simplified technique was better than the classic neurosurgical technique. It preserved the nervous tissue and prevented the adherence of the spinal cord to the scar. This suggests the current technique used for the correction of spina bifida in humans may need to be reassessed.

OBJETIVO: Comparar a técnica neurocirúrgica clássica a uma nova técnica simplificada, para correção de mielomeningocele, em fetos de ovelhas. MÉTODOS: Em 9 fetos, foi criado um defeito semelhante à mielomeningocele (laminectomia e excisão de dura-máter) no 90º dia de gestação. O tipo de correção foi randomizado. No Grupo 1, o defeito foi corrigido usando a técnica neurocirúrgica clássica, com a sutura de três camadas (dura-máter, músculo e pele), realizada por um neurocirurgião. No Grupo 2, um especialista em Medicina Fetal utilizou a técnica simplificada, colocando um fragmento de celulose biossintética sobre a medula e suturando apenas da pele sobre a celulose. Próximo ao termo da gestação (132 dias), os fetos foram sacrificados para análise anatomopatológica. RESULTADOS: Ocorreram dois casos de aborto e uma morte materna, restando seis casos para avaliação - três em cada grupo. No Grupo 1, todos os casos mostraram aderência da medula à cicatriz (meningoadesão) e perda da arquitetura medular, com destruição do funículo posterior e perda da visualização da substância cinzenta. No Grupo 2, observou-se, em todos os casos, a formação de uma neodura-máter, separando o tecido nervoso do músculo adjacente, sendo que o funículo posterior e a substância cinzenta estavam preservados. CONCLUSÃO: A técnica simplificada foi superior à neurocirúrgica, com maior preservação da medula e evitando as aderências do tecido nervoso. Os presentes achados sugerem que a técnica utilizada atualmente na correção de mielomeningocele em fetos humanos deva ser reavaliada.

Avances en la cirugía de la disrrafia espinal en el Instituto de Neurocirugía de Chile: el uso del neuromonitoreo mejora radicalmente los resultados quirúrgicos / Advances in spinal dysraphism surgery at the Institute of Neurosurgery of Chile: the use of neuromonitoring radically improves surgical outcomes

El objetivo del tratamiento quirúrgico de los pacientes aquejados de disrrafia espinal es mantener su función neurológica estable y óptima durante toda su vida, sin embargo, existe un riesgo importante implícito en la cirugía. Con el objeto de investigar el impacto del monitoreo electrofisiológico intraoperatorio (MIO) en la evolución postoperatoria de estos pacientes, el cirujano practicó electromiografía libre y estimulada como retroalimentación continua del procedimiento. Las patologías operadas fueron: lipomas del fillum, lipomas del cono medular y re-anclajes de pacientes portadores de mielomeningocele al nacer. En todas las patologías se comparó la evolución post-operatoria con grupos de pacientes operados sin MIO, con el objeto de comparar sus evoluciones. Se observaron diferencias significativas entre los tres grupos de pacientes el uso de MIO evita el deterioro motor y la aparición de vejiga neurogénica en pacientes operados de lipoma del cono, evita la inclusión de raíces nerviosas en la sección del Fillum y evita el deterioro motor y ayuda a mejorar la función vesical de pacientes que se operan por re-anclaje medular por mielomeningocele. Finalmente, fue posible aplicar esta técnica en recién nacidos con mielomeningocele bajo, desarrollándose un protocolo que evita de facto el deterioro motor y debería evitar la inclusión de piel durante la tunelización de la placoda. Los datos mostrados en el presente trabajo permiten afirmar que esta técnica, por primera vez desarrollada en el sistema público chileno, así aplicada mejora muy significativamente los resultados de la cirugía de disrrafia espinal.

Simplified correction of a meningomyelocele-like defect in the ovine fetus / Correção simplificada de um defeito semelhante à meningomielocele em fetos de ovelha

PURPOSE: To develop a simplified technique for antenatal correction of a meningomyelocele -like defect in fetal sheep to allow direct skin closure. METHODS: A spinal defect was surgically created at 75 days of gestation in the fetuses of 36 pregnant sheep, 23 survived the surgery. At 102 days gestation, the defect was corrected in 14 cases (9 were left untreated). Skin surrounding the defect was dissected below the dermis to permit its edges to be approximated and sutured, without interposing any material to its edges. An interface material intended to protect the neural tissue from skin adhesion was used and the skin defect was completely closed over it. Pregnancy was allowed to continue up to 138 days gestation, the fetuses were submitted to macroscopic and microscopic analysis. RESULTS: The defect was successfully corrected in 90.9 percent in the experimental group, and spontaneous closure occurred in 22.3 percent in the control group (p < 0.05). The survival rate after the creation and correction of the defect was 63.4 percent and 78 percent respectively. CONCLUSION: This simplified technique was successful in the correction a meningomyelocele-like defect, in the fetal sheep.

OBJETIVO: Desenvolver uma técnica simplificada de correção pré-natal de defeito semelhante à mielomeningocele em fetos de ovelha permitindo um fechamento direto da pele. MÉTODOS: Um defeito espinhal foi cirurgicamente criado com 75 dias de gestação, em 36 fetos de ovelha, 23 sobreviveram à cirurgia. Após 102 dias de gestação, o defeito foi corrigido em 14 casos (9 não foram tratados). A pele em volta do defeito foi dissecada abaixo da derme para permitir a aproximação direta das bordas através de sutura, sem a interposição de nenhum material entre a pele. Um material de interface foi colocado entre o tecido neural exposto e a pele, com o objetivo de evitar a adesão da medula à pele, que foi completamente fechada sobre o defeito. A gravidez foi mantida até 138 dias, os fetos foram submetidos a análises macroscópicas e microscópicas. RESULTADOS: O defeito foi corrigido em 90.9 por cento no grupo experimental, e o fechamento espontâneo ocorreu em 22.3 por cento no grupo controle (p < 0.05). A taxa de sobrevivência após a criação do defeito e posteriormente a sua correção foi de 63,4 por cento e 78 por cento, respectivamente. CONCLUSÃO: Esta técnica simplificada teve sucesso na correção do defeito semelhante à mielomeningocele em feto de ovelha.

Correção de cifose secundária à mielomeningocele através de osteotomia vertebral / Spinal osteotomy for kyphosis correction in myelomeningocele

Introdução: A mielomeningocele é uma afecção que com frequência evolui com deformidade vertebral, sendo a cifose secundária à mielomeningocele uma manifestação grave e que compromete a qualidade de vida do paciente. Há dificuldade para manter o tronco equilibrado o exige apoio das mãos; além disso, há lesões de pele recorrentes no ápice da deformidade e dificuldade para adaptação em cadeiras de rodas. Portanto, a correção cirúrgica da deformidade é necessária. O tratamento cirúrgico possui uma ampla variedade de técnicas descritas. Relato do caso: Realizou-se neste estudo uma osteotomia vertebral através de acesso único posterior, associada à vertebrectomia com fixação pedicular e haste de ancoragem distal no forame sacral em uma criança de 10 anos de idade portadora de mielomeningocele de nível torácico. Obteve-se correção significativa da deformidade inicial, com regressão de 110 para menos de 15º Cobb, com melhora significativa do aspecto funcional e estético, reestabelecimento de tronco ereto e independência para utilização das mãos por parte da paciente para práticas de atividade de vida adaptadas. Discussão: A osteotomia vertebral através de acesso único posterior, associada à vertebrectomia e artrodese ampla para correção de cifose secundária à mielomeningocele, é um procedimento tecnicamente complexo, porém é uma possibilidade viável para pacientes com grave comprometimento vertebral. Conclusão: A correção através da osteotomia vertebral se mostrou eficaz na correção da deformidade para o reequilíbrio da coluna vertebral.

Introduction: Myelomeningocele is a condition that often evolves with vertebral deformity; the secondary kyphosis that follows from myelomeningocele is a serious condition and compromises the patient?s quality of life. There is difficulty to maintain the torso balance requires hand support; there are also recurrent skin lesions when the deformity is aggravated, and a difficulty of adaption to wheelchairs. Therefore, surgical correction of the deformity is required. There is a wide variety of described techniques for surgical treatment. Case report: In this study we carried out a vertebral osteotomy through the unique posterior access associated to vertebrectomy with pedicular fixation and distal anchorage implant on the sacral foramen of a 10-year-old child with myelomeningocele of toracic level. We have obtained significant correction of the initial deformity with decrease from 110 to less than 15º Cobb, with sensible improvement of functional and aesthetic aspects, reestablishment of the erected torso and independence of the patient?s hands for adapted daily practices. Discussion: Vertebral osteotomy through unique posterior access associated to vertebrectomy and arthrodesis for correction of kyphosis following from myelomeningocele is a technically complex procedure; nevertheless it is a viable possibility for patients with a serious vertebral condition. Conclusion: Vertebral osteotomy has shown to be efficient in vertebral deformity correction, restoring equilibrium.

Clinical improvement after untethering procedure of secondary tethered spinal cord [TSC] vs. primary TSC

To evaluate the surgical treatment of tethered spinal cord [TSC] in relation to the initial aetiology. Twenty-two patients suffering from TSC underwent untethering surgery fur their lesions between 2005 and 2006. Eleven patients were previously operated on for myelomeningocele [MM] at birth [group I] and 11 had primary TSC associated with skin signs of occult spine dysraphism [group II]. Age range was between 18 months and 11 years. Neurological disability was evaluated as moderate for both groups before surgery, and none of the patients, especially in group I, had complete paralysis. All the selected patients developed urinary dysfunction associated with motor weakness or aggravated their initial clinical status. All patients had preoperative neurological and urine function evaluation, then again at least 2 months following surgery. The follow-up period ranged from 2 months to 1 year. Postoperatively, in group I, 4 patients [36%] had improved urinary and motor functions. Three patients improved only motor function with stable urinary function [total motor improvement 63%]. Two did not show any changes, while 2 patients deteriorated. In group II, 6 patients [54%] improved their urinary and motor conditions after the untethering procedure, 3 patients improved their motor condition with a stable urinary function [total motor improvement 81%] and 2 did not show any changes. It seems that untethering operation may improve the clinical conditions for patients suffering from TSC but results of such a procedure are better in group II than in group I