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.

Lipomielomeningocele y médula anclada en un neonato: a propósito de un hallazgo cutáneo / Lipomyelomeningocele and tethered cord in neonate: a cutaneous finding / Lipomielomeningocele e medula ancorada em rescem nacido: um achado cutâneo

Introducción: el disrafismo espinal oculto comprende las anomalías congénitas caracterizadas por la fusión incompleta del tubo neural, en las que la lesión se encuentra cubierta por piel sin observarse exposición del tejido nervioso. Existen estigmas cutáneos que se asocian a su presencia, siendo los lipomas congénitos en la línea media posterior altamente sugerentes de lesión espinal. Su principal complicación es la asociación con el síndrome de médula anclada, que puede causar un daño neurológico irreversible. Caso clínico: recién nacida de sexo femenino, durante la exploración en Maternidad detectamos un estigma cutáneo del tipo lipoma en la región sacra sospechoso de disrafismo espinal oculto, confirmándose posteriormente, mediante estudio con ecografía y resonancia magnética, la presencia de lipomielomeningocele y médula anclada. Conclusiones: el reconocimiento de los marcadores cutáneos, que constituyen a veces la única manifestación de la enfermedad en pacientes asintomáticos, posibilitaría un diagnóstico precoz y manejo individualizado con posible corrección quirúrgica según el caso, que podría prevenir el daño neurológico irreversible asociado a la médula anclada.

Introduction: hidden spinal dysraphism involves congenital anomalies characterized by an incomplete fusion of the neural tube, where the lesion is covered by skin and the nervous tissue is not exposed. Some skin stigmas are linked with this spinal injury, mainly congenital lipomas in the posterior midline of the lesion. Hidden spinal dysraphism's main complication could be tethered cord syndrome, which can cause irreversible neurological damage. Clinical case: female newborn showing a lipoma-like skin stigma in the sacral region, looking like hidden spinal dysraphism, which was later confirmed through ultrasound and magnetic resonance imaging, which showed lipomyelomeningocele and a tethered cord. Conclusions: early detection of these skin markers is sometimes the only tool to early diagnosis and personalized treatment in asymptomatic patients. It enables a possible surgical remediation and may prevent the irreversible neurological damage linked to the tethered cord.

Introdução: o disrafismo espinhal oculto envolve anomalias congênitas caracterizadas por uma fusão incompleta do tubo neural, onde a lesão é coberta por pele e o tecido nervoso não fica exposto. Alguns estigmas de pele estão relacionados a essa lesão espinhal, principalmente lipomas congênitos na linha média posterior da lesão. A principal complicação do disrafismo espinhal oculto pode ser a síndrome da medula ancorada, a qual pode causar danos neurológicos irreversíveis. Caso clínico: recém-nascida apresenta estigma cutâneo semelhante a lipoma na região sacral, semelhante a disrafismo espinhal oculto, posteriormente confirmado por ultrassonografia e ressonância magnética, o que evidenciou lipomielomeningocele e medula ancorada. Conclusões: a detecção precoce desses marcadores cutâneos às vezes é a única ferramenta para o diagnóstico precoce e tratamento personalizado em pacientes assintomáticos. Permite uma possível correção cirúrgica e pode prevenir os danos neurológicos irreversíveis ligados à medula ancorada.

Historical Clinical Outcomes of Children with Myelomeningocele Meeting the Criteria for Fetal Surgery: A Retrospective Cohort Survey of Brazilian Patients / Resultados clínicos históricos de crianças com mielomeningocele com critérios para cirurgia fetal: Um estudo de coorte retrospectivo de pacientes brasileiros

Abstract Objective To analyze the historical clinical outcomes of children with myelomeningocele (MMC) meeting the criteria for fetal surgery, but who underwent postnatal primary repair. Methods Data from children undergoing postnatal MMC repair between January 1995 and January 2015 were collected from the Neurosurgery Outpatient Clinic's medical records. Children were included if they had ≥1 year of postoperative follow-up andmet the criteria for fetal surgery. The children's data were then stratified according to whether they received a shunt or not. The primary outcome was mortality, and secondary outcomes were educational delays, hospitalization, recurrent urinary tract infections (UTIs), and renal failure. Results Over the 20-year period, 231 children with MMC were followed up. Based on clinical data recorded at the time of birth, 165 (71.4%) qualify of fetal surgery. Of the 165 patients, 136 (82.4%) underwent shunt placement. The mortality rate was 5.1% in the group with shunt and 0% in the group without, relative risk (RR) 3.28 (95% confidence interval, 95% CI, 0.19-55.9). The statistically significant RRs for adverse outcomes in the shunted group were 1.86 (95% CI, 1.01-3.44) for UTI, 30 (95% CI, 1.01-537) for renal failure, and 1.77 (95% CI, 1.09-2.87) for hospitalizations. Conclusion Children with MMC qualifying for fetal surgery who underwent shunt placement were more likely to have recurrent UTIs, develop renal failure, and be hospitalized. Since approximately half of the shunt procedures could be avoided by fetal surgery, there is a clinical benefit and a possible financial benefit to the implementation of this technology in our setting.

Resumo Objetivo Analisar os resultados clínicos históricos de crianças commielomeningocele (MMC) com critérios para cirurgia fetal,mas que foram submetidas a cirurgia pós-natal. Métodos Dados de crianças submetidas à correção deMMCpós-natal entre janeiro de 1995 e janeiro de 2015 foram coletados nos prontuários do Ambulatório de Neurocirurgia. Foram incluídas crianças se tivessem ≥ 1 ano de acompanhamento pósoperatório e atendessem os critérios para cirurgia fetal. As informações dessas crianças foram então estratificadas de acordo com se receberam ou não derivação do líquido cefalorraquidiano. O desfecho primário foi a mortalidade e os desfechos secundários foram atrasos educacionais, hospitalização, infecções recorrentes do trato urinário einsuficiência renal. Resultados Durante o período de 20 anos, 231 crianças com MMC foram acompanhadas. Com base nos dados clínicos registrados no momento do nascimento, 165 (71,4%) atendiam critérios para a cirurgia fetal. Dos 165 pacientes, 136 (82,4%) foram submetidos à colocação de derivação do líquido cefalorraquidiano. A taxa de mortalidade foi de 5,1% no grupo com derivação do líquido cefalorraquidiano e 0% no grupo sem risco relativo (RR) 3,28 (intervalo de confiança 95%, IC 95%, 0,19-55,9). Os RRs estatisticamente significativos para resultados adversos no grupo com derivação do líquido cefalorraquidiano foram 1,86 (IC 95%, 1,01-3,44) para infecção do trato urinário, 30 (IC 95%, 1,01-537) para insuficiência renal e 1,77 (IC 95%, 1,09-2,87) para hospitalizações. Conclusão Crianças com MMC com critérios para cirurgia fetal submetidas à colocação de derivação do líquido cefalorraquidiano eram mais propensas a ter infecções recorrentes do trato urinário, desenvolver insuficiência renal e serem hospitalizadas. Como aproximadamente metade dos procedimentos de derivação poderiam ser evitados por cirurgia fetal, há um benefício clínico e um possível benefício financeiro com a implementação dessa tecnologia em nosso meio.

Validity of the VO2peak prediction model to Brazilian youth with spina bifida / Validação de um modelo preditivo do VO2pico em jovens brasileiros com espinha bífida

Objective:To validate a peak oxygen uptake (VO2peak) prediction model in Brazilian youth with spina bifida. Methods:Twenty participants with spina bifida performed a graded arm crank test to measure VO2peak. The VO2peakvalues predicted by the equation "VO2peak(mL/min) = 194 + 18 × peak workload ­110 × sex" were compared to the VO2peakvalues measured. Results:The predicted VO2peakwas not different from the measured VO2peak. A high correlation was found between both VO2peak values, and the Bland-Altman analysis did not show a significant difference, demonstrating agreement between the values. Conclusions:The VO2peak prediction model in Brazilian youth with spina bifida was validated, being an advantageous alternative to assess and follow physical fitness and prescribe exercise training intensity.

Objetivo: Validar uma equação preditiva do consumo pico de oxigênio (VO2pico) em jovens brasileiros com espinha bífida. Métodos: Vinte participantes com espinha bífida realizaram um teste ergoespirométrico de membros superiores para medir o VO2pico. Os valores de VO2pico preditos pela equação "VO2pico (mL/min) = 194 + 18 × carga pico ­ 110 × sexo" foram comparados com o VO2pico medido. Resultados: O VO2pico predito pela equação não foi diferente do VO2pico medido. Foi encontrada alta correlação entre os valores de VO2pico e, a análise Bland Altman não mostrou diferença significativa, demonstrando concordância entre os valores. Conclusão: A equação preditiva do VO2pico é válida para jovens brasileiros com espinha bífida e é uma alternativa vantajosa para obter e acompanhar o condicionamento físico e prescrever a intensidade de treinamento nesses indivíduos.

Spinal dermal sinus complication in children: case series and literature review / Complicação do seio dérmico espinhalem crianças: séries de casos e revisão de literatura / Complicacióndel seno dérmico espinal en niños: serie de casos y revisión de la literatura

ABSTRACT Introduction: Dermal sinus (DS) is a rare dysraphism. It can be asymptomatic, become infected, and produce severe neurological symptoms. Our objective is to present a series of pediatric cases with spinal DS complicated byinfections (DSCI), describe the findings correlated with the anatomy in a stillbirth, as well as the associated pathologies and their treatment. Method: We analyzeddifferent variables in the clinical histories of 5 children with spinal DSCI. In addition, an anatomical dissection of a stillbirth with lumbar DS was performed. Results: Two males and 3 femaleswith DSCI and a mean age of 2 years and 9 months were included: 2 lumbar (one in the midline and the other in theparamedian region), 1 in the thoracic region, 1 in the upper cervical region,and 1 in the lumbosacral region. The forms of presentation were 3 meningeal profiles (one with pain andlocalized swelling) and 3 neurological deficits (one associated with the meningeal profile and another associated with pain and a tumor). In all cases, the tract of the DS was identified by magnetic resonance imaging (MRI).Associated lesions included 1 dorsal intramedullary dermoid cyst, 1 tethered lumbar spinal cord with syringomyelia, 1 partial cervical medullary disconnection, and 2 spinal dysraphisms. Four were operated on and one died of infectious complications before surgery. In the 12-week-old male fetus with lumbar DS, a permeable tract to the subarachnoid space was verified. Conclusions: DSCIsshould bestudied with MRI to identify their tracts, infectious complications of thecentral nervous system, associated malformations, inclusion tumors, and to enabledifferential diagnosis. Once diagnosed, they should be urgently treated both surgically and with prolonged antibiotictherapy. Level of Evidence IV; Therapeutic Study (Treatment Outcome Investigation)

RESUMO Introdução: O seio dérmico (SD) é uma disrafia rara. Pode ser assintomático, sofrer infecção e produzir quadros graves.Nosso objetivo é apresentar uma série de casos pediátricos com SDs espinhais complicados por infecções (SDCI),descrever os achados correlacionados com a anatomia em um natimorto, as patologias associadas e seu tratamento. Método: Foram analisadasas variáveis da históriaclínica em 5 crianças com SCDI espinhal.Além disso, foi feita uma dissecção anatômica de um natimorto com SD. Resultados: Foram incluídos 2 meninose 3 meninas, com média de idade de 2 anos e 9 meses, com SDCI: 2 lombares(um na linha média e um paramediano), 1 na região torácica, 1 na região cervical superior e 1 lombossacral. As formas de apresentação foram 3 quadros meníngeos, 1 com dor e tumefação lombar local e 3 déficits neurológicos (um associado ao quadro meníngeo e outro associado à dor e tumor). Em todos os casos, o trajeto do SD foi identificado por ressonância magnética (RM).Aslesões associadas foram 1 cisto dermoide intramedular dorsal, 1 medula ancorada lombar com siringomielia, 1 desconexão medular cervical parcial e 2 disrafias espinhais. Quatro participantes foram operados e um foi a óbito decorrente de complicações infecciosas antes da cirurgia.No feto masculino de 12 semanas com SD lombar, foi verificado um trajeto permeável até o espaçosubaracnóideo. Conclusões: Os SDCIs devem ser estudados com RM para identificar o seu trajeto, complicações infecciosas do sistema nervoso, malformações associadas, tumores de inclusão e permitir o diagnóstico diferencial. Eles devem ser tratados cirurgicamente com urgência uma vez diagnosticados e com tratamento prolongado com antibióticos. Nível de evidência IV; EstudosTerapêuticos- Investigação dos Resultados do Tratamento

RESUMEN Introducción: El seno dérmico (SD) es una disrafia infrecuente. Puede ser asintomático, infectarse y producircuadros severos. Nuestro objetivo es presentar una serie de casos pediátricos con SD espinalescomplicados porinfecciones (SDCI), describir los hallazgoscorrelacionadoscon la anatomía en un mortinato, las patologías asociadas y su tratamiento. Método: Seanalizaron diferentes variables enlas historias clínicas de 5 niños con SDCI espinales. Además, se realizó unadisección anatómicade un mortinato con SD lumbar. Resultados: Se incluyeron2varones y 3 mujeres,de 2 años y 9 meses de edad promedio, con SDCI:2 lumbares (uno en línea media y otro paramediano), 1 en región torácica, 1 cervical superior y 1 lumbosacro. Las formas de presentación fuerontres cuadros meníngeos, 1 con dolor y tumefacción local lumbar y 3 déficits neurológicos (uno asociado a cuadro meníngeo y otro asociado a dolor y tumor). En todos los casos se identificó el trayecto del SD por resonancia magnética (IRM). Como lesiones asociadas hubo1 quiste dermoide intramedular dorsal,1médula lumbar anclada con siringomielia,1 desconexión medular cervical parcial y 2 disrafias espinales. Cuatro fueron operados y uno falleció por complicaciones infecciosas antes de la cirugía. En el feto masculino de 12 semanas con SD lumbar, se verificóun trayecto permeable hasta el espacio subaracnoideo. Conclusiones: Los SDCI se deben estudiarconIRM, para identificarsu trayecto, las complicaciones infecciosas del sistema nervioso, las malformaciones asociadas,los tumores de inclusión y permitirel diagnóstico diferencial. Se deben tratar quirúrgicamente con urgencia una vez diagnosticados y con antibiótico-terapia prolongada. Nivel de Evidencia IV; Estudio Terapéutico (Investigación de Resultado de Tratamiento).

Disrafismo Espinal Oculto: Reporte de Caso

RESUMEN El disrafismo espinal oculto incluye alteraciones en la fusión del tubo neural, en el que la lesión está cubierta por la epidermis, su incidencia estimada es de 0,5 a 5 casos por cada 1000 nacidos vivos. Los estigmas cutáneos pueden ser el único signo de la patología, los cuales pueden no ser muy evidentes. Reporte de caso de mujer de 36 años que acudió a consulta por cuadro de dolor lumbar de inicio insidioso, de 3 semanas de duración, que con el paso de los días se fue intensificando, irradia a miembros inferiores, cede parcialmente con analgésicos comunes y se acompaña de parestesias en ambos miembros. Se solicitó TAC y RMN que reveló anomalía anatómica sacrococcígea caracterizada por abertura de canal raquídeo, ausencia de cóccix, situación baja del cono medular, siringomielia e hiperintensidad a nivel del filum terminal sugestivo de lipoma. Se confirmó el diagnóstico de espina bífida oculta a nivel sacro, con lipoma del filum terminal, médula anclada con situación baja del cono medular y siringomielia asociada. Actualmente es controversial el beneficio cirugía profiláctica en pacientes asintomáticos, siendo preferible una conducta conservadora con estrecho seguimiento urológico y neurológico, entre las medidas de prevención se recomienda evitar el ejercicio físico extenuante, disminuir carga de columna lumbar y reeducación postural.

ABSTRACT Occult spinal dysraphism includes alterations in the fusion of the neural tube, in which the lesion is covered by the epidermis, its estimated incidence is 0.5 to 5 cases per 1000 live births. Cutaneous stigmata may be the only sign of pathology, which may not be very obvious. Case report of a 36-year-old woman who came to the clinic for insidious onset lumbar pain, lasting 3 weeks, which intensified over the days, radiating to the lower limbs, partially subsided with common analgesics and accompanied by paresthesias in both limbs. CT and MRI are requested, revealing sacrococcygeal anatomical abnormality characterized by spinal canal opening, absence of coccyx, low location of the medullary cone, syringomyelia, and hyperintensity at the level of the terminal filum suggestive of lipoma. The diagnosis of occult spina bifida at the sacral level was confirmed, with a lipoma of the terminal filum, an anchored cord with a low location of the medullary cone and associated syringomyelia. Currently, the benefit of prophylactic surgery in asymptomatic patients is controversial, being preferable a conservative behavior with close urological and neurological monitoring, among the prevention measures it is recommended to avoid strenuous physical exercise, reduce lumbar spine load and postural reeducation.

Mucocele frontal: reporte de caso

RESUMEN Los mucoceles de los senos paranasales son tumoraciones expansivas que muestran diferentes presentaciones y localizaciones. Son tumores benignos de crecimiento lento, pero debido a la expansión que presentan causan la erosión y desplazamiento de las estructuras adyacentes, la edad de presentación varía de los 40 a los 60 años, sin predilección por el sexo. Aproximadamente en el 60-65 % de casos afectan a los senos paranasales frontales. La clínica de presentación es variable y depende mucho del tamaño del mucocele, así como de su localización y tiempo de evolución, pueden permanecer asintomáticos por mucho tiempo y debutar con alguna complicación; en los de localización frontal los hallazgos más frecuentes son cefalea frontal, asimetría facial, alteraciones a nivel ocular como diplopía, proptosis ocular, disminución de la movilidad ocular, reducción de la agudeza visual, incluso pudiendo llegar a pérdida de la visión total en el ojo afecto; la expansión intracraneal también puede llevar a fístulas de líquido cefalorraquídeo, meningitis y abscesos cerebrales. En el diagnóstico es fundamental solicitar el par radiológico de tomografía y resonancia magnética con contraste para determinar la extensión real del mucocele, la afectación de las estructuras adyacentes y optar por la mejor terapéutica posible. Esta patología es de manejo quirúrgico, el objetivo es abrir la cavidad del mucocele para lograr una adecuada ventilación y drenaje del seno afecto, actualmente la cirugía endoscópica nasal o combinada es la terapéutica más empleada.

ABSTRACT Mucoceles of the paranasal sinuses are expansive tumors that show different presentations and locations. They are benign tumors of slow growth, but due to their expansion they cause erosion and displacement of adjacent structures. The age of presentation varies from 40 to 60 years old, with no gender predilection. Approximately 60-65% of cases affect the frontal paranasal sinuses. The clinical presentation is variable and depends on the size of the mucocele, as well as its location and time of evolution, they can remain asymptomatic for a long time and debut with some complication; In frontal mucoceles the most frequent findings are frontal headache, facial asymmetry, ocular alterations such as diplopia, ocular proptosis, decreased ocular mobility, reduced visual acuity, and even total loss of vision in the affected eye; intracranial expansion can also lead to cerebrospinal fluid fistulas, meningitis and brain abscesses. In the diagnosis it is essential to request the radiological pair of tomography and magnetic resonance with contrast to determine the real extension of the mucocele, the affectation of the adjacent structures and to opt for the best possible therapy. This pathology is of surgical management, the objective is to open the mucocele cavity to achieve an adequate ventilation and drainage of the affected sinus, currently the nasal endoscopic or combined surgery is the most used therapy.

Neurocirugía transicional: ¿una nueva subespecialidad? / Transitional neurosurgery: a new subspecialty?

Introducción: El proceso de transición de un paciente de la etapa pediátrica a la adulta es un proceso dinámico, complejo y planificado, que incluye la transferencia propiamente dicha de una institución pediátrica a una adulta. El aumento de la sobrevida de niños y adolescentes con patologías crónicas, la falta de acuerdos formales entre instituciones de salud y la falta de enfoque multidisciplinario de estos casos son los principales problemas a tener en cuenta. El objetivo del presente trabajo es describir y proponer una respuesta a las situaciones y dificultades que se encuentran en la actualidad en la salud pública durante el proceso de transición de pacientes pediátricos con patología neuroquirúrgica crónica y de pacientes adultos con patología congénita. Para tal fin se deben considerar factores sociales, económicos y comunicacionales. Material y Método: Estudio observacional, transversal y retrospectivo de pacientes con patología neuroquirúrgica transicional desde el 01 de enero de 2017 al 31 de diciembre de 2018. En total se revisaron las historias clínicas de 47 pacientes del Hospital "El Cruce". Resultados: De los 47 pacientes observados, con un rango etario entre 17 y 42 años, realizamos una división de éstos en 2 grupos: GRUPO 1: pacientes adultos operados en la edad pediátrica que requieren un seguimiento crónico de su patología de origen; y GRUPO 2: pacientes adultos con patología congénita. En el GRUPO 1, observamos 38 pacientes (24 masculinos y 14 femeninos) de los cuales 24 fueron operados y 14 no operados (solo seguimiento clínico). Dentro de este grupo, el 63% de los pacientes (n=29) presentó como su patología de base para su seguimiento la hidrocefalia. En el GRUPO 2, observamos a 9 pacientes (2 masculinos y 7 femeninos) de los cuales 7 fueron operados y 2 no operados. Todos los pacientes de este último grupo presentaron como diagnóstico de base un disrafismo espinal. Conclusión: Se debe lograr una transición planificada para el bienestar de los jóvenes con necesidades especiales de atención de salud. Actualmente no hay acuerdos interinstitucionales formales para el seguimiento y atención de estos pacientes.Consideramos que existe un grupo de pacientes que se beneficiarían con la creación de una nueva subespecialidad neuroquirúrgica: la neurocirugía transicional. La misma debería desarrollarse en hospitales generales, de alta complejidad, donde coincidan en el servicio de neurocirugía de adultos, neurocirujanos con formación pediátrica

Introduction: The transition process of a patient from pediatric to adult stage is a dynamic, complex, and planned process which, strictly speaking, includes the transfer from a pediatric to an adult institution. The increased rate of survival of children and adolescents with chronic pathologies, lack of formal agreements between health institutions and lack of multidisciplinary approach to these cases are the main issues to consider. The purpose of this paper is to describe and provide a response to situations and difficulties that currently exist in the public health during the transition process of pediatric patients with chronic neurosurgical pathology and adult patients with congenital pathology. For this purpose, communication, social, and economic factors must be considered. Methods: Observational, cross-sectional, and retrospective study of patients with transitional neurosurgical pathology from January 1, 2017, to December 31, 2018. In total, 47 patient's medical records were reviewed from "El Cruce" Hospital. Results: A total of 47 patients, with an age range between 17 and 42 years, were observed. We divided our study population into 2 groups: GROUP 1: adult patients who have been operated in pediatric age and require chronic follow-up of their origin pathology; and GROUP 2: adult patients with congenital pathology. In GROUP 1, we observed 38 patients (24 male and 14 female) of whom 24 were performed neurosurgery, and 14 were not. Within this group, 63% of the patients (n = 29) presented hydrocephalus as their basic pathology for monitoring. In GROUP 2, we observed 9 patients (2 male and 7 female) of whom 7 were operated and 2 were not. All patients in this last group presented spinal dysraphism as their basic diagnosis. Conclusion: A planned transition for the well-being of young patients with special health care needs must be achieved. Currently, there are no formal institutional agreements for the monitoring and care of these patients. We believe that there is a group of patients who would benefit from the creation of a new neurosurgical sub-specialty: transitional neurosurgery. It should be developed in high complexity general hospitals, where neurosurgeons with pediatric training could be part of a general neurosurgery department.

Agenesia caudal con disrafismo espinal cerrado, reporte de un caso / Caudal agenesis with closed spinal dysraphism, a case report / Caudal agenesis with closed spinal dysraphism, a case report

RESUMEN La agenesia caudal es una patología poco frecuente; es difícil su diagnóstico y evaluación fetal. La presencia de disrafismo espinal cerrado a nivel del sacro debe obligarnos a evaluar la anatomía del sacro. La visualización del cono medular es una forma muy útil en la evaluación y descarte de disrafismo espinal cerrado y agenesia caudal. Comunicamos un caso poco frecuente de agenesia caudal.

ABSTRACT Caudal agenesis is a rare pathology, its diagnosis and fetal evaluation are complex. The presence of closed spinal dysraphism at the level of the sacrum should compel us to evaluate the anatomy of the sacrum. The evaluation of the medullary cone is very useful to evaluate and exclude closed spinal dysraphism and caudal agenesis. We report a rare case of caudal agenesis.

Antenatal diagnosis of omphalocele and spinal dysraphism: a possible OEIS complex

OEIS complex, which comprises of omphalocele, exstrophy bladder, imperforate anus and spinal dysraphism, is a rare disorder. The prognosis depends upon the severity of the structural defects. Survival depends on the extension of the cloacal exstrophy and the neural tube defect. The antenatal diagnosis in early pregnancy is very tough, and a high level of suspicion should be kept for the possibility of its existence, even only if omphalocele and spinal dysraphism are seen on a prenatal sonography. Authors present the case of a 33-year-old, G1P0 female, who on her prenatal routine sonography scan, was found to have a fetus with omphalocele and spinal dysraphism. Despite the repeated attempts to follow her up, she refused and hence the possibility of the presence of other associated malformations could not be ascertained. Considering the difficulty of antenatal diagnosis of OEIS complex and its associated mortality, the objective of this case report is to discuss the vital sonographic findings of OEIS, along with its etiology and prognosis, which can aid in its early detection and subsequently help parents to make a decision regarding the continuation of pregnancy.

Experiencia con la "técnica de Xiao" para reinervación de la vejiga, en pacientes con mielomeningocele y vejiga neurogénica, 8 años de seguimiento, en adultos / Experience with the "Xiao technique" for reinnervation of the bladder, in patients with myelomeningocele and neurogenic bladder, 8 years of follow-up, in adults

Objetivo: Restaurar función de vaciado vesical en pacientes con vejiga neurogénica por medio de la reinervación de la vejiga a través de la creación de reflejo sómato-visceral. Registrar complicaciones neuroquirúrgicas, urológicas y ortopédicas.Evaluar dificultades técnico-quirúrgicas y los resultados de 5 casos realizados en Argentina. Introducción: La vejiga neurogénica es una complicación secundaria al daño neurológico en los pacientes con mielomeningocele (MMC). Para lograr vaciar la vejiga deben realizar cateterismo intermitente. La técnica Xiao se basa en permitir la generación de un arco reflejo somato visceral por medio de una anastomosis entre una raíz eferente donante y la raíz motora S2 S3 que permita el vaciado vesical sin cateterismo. Material y métodos: Por medio de un estudio descriptivo retrospectivo, se analizan los resultados obtenidos luego de realizar la técnica Xiao, en el año 2010, en 5 pacientes con MMC y vejiga neurogénica. Los pacientes fueron operados en el Instituto de Rehabilitación (IREP). Fueron evaluados en forma multidisciplinaria tanto pre como en el postoperatorio por neurocirujanos, neurólogos, urólogos, clínicos y kinesiólogos. Resultados: Los pacientes que presentaron mejores resultados fueron los más jóvenes y los que no presentaban daño estructural de la vejiga al momento de la cirugía, lo que coincide con los resultados compartidos por los demás centros donde fue realizada esta técnica. Conclusiones: La técnica de Xiao puede considerarse una opción para el tratamiento de la vejiga neurogénica. Aunque nuestra serie es muy pequeña para dar conclusiones, los resultados globales de todas las series muestran resultados alentadores.

Objective: To restore bladder function in patients with neurogenic bladder through the reinnervation through restauration of somatic-visceral reflex. Record neurosurgical, urological and orthopedic complications. To evaluate technical-surgical difficulties and the results of 5 cases performed in Argentina. Introduction: Neurogenic bladder is a complication secondary to neurological damage in patients with myelomeningocele (MMC). To achieve emptying of the bladder, intermittent catheterization must be performed. The "Xiao technique" is based on allowing the generation of a visceral somatic-reflex arc by means of an anastomosis between a donor efferent root and the motor root S2-S3 that allows bladder emptying without catheterization. Material and methods: Through a retrospective descriptive study, the results obtained after performing the "Xiao technique" in 5 patients with MMC and neurogenic bladder were analyzed. The patients were operated at the Rehabilitation Institute (IREP). They were evaluated with a multidisciplinary team, both pre and post-surgery. The team was formed by neurosurgeons, neurologists, urologists, clinicians and kinesiologists. Results: The patients who presented the best results were the youngest and those who did not present structural damage of the bladder at the time of surgery, which match the results shared by the other centers where this technique was performed. Conclusions: "Xiao's technique" can be considered an option for the treatment of neurogenic bladder. Although our series is too small to make conclusions, the overall results of all the series show encouraging results

Dorsal midline cutaneous stigmata associated with occult spinal dysraphism in pediatric patients / 소아과

PURPOSE: To investigate the prevalence of occult spinal dysraphism (OSD) and subsequent neurosurgery in pediatric patients with isolated or combined dorsal midline cutaneous stigmata with or without other congenital malformations. METHODS: We carried out a retrospective review of patients who underwent sonography or magnetic resonance imaging (MRI) for OSD because of suspicion of dorsal midline cutaneous stigmata (presumed to be a marker for OSD) between January 2012 and June 2017. Information about patient characteristics, physical examination findings, spinal ultrasound and MRI results, neurosurgical notes, and accompanying congenital anomalies was collected. RESULTS: Totally 250 patients (249 ultrasound and one MRI screening) were enrolled for analysis. Eleven patients underwent secondary MRI examinations. The prevalence of OSD confirmed by an MRI was 2.4% (6 patients including one MRI screening). Five patients (2%) had tethered cord and underwent prophylactic neurosurgery, 3 of whom had a sacrococcygeal dimple and a fibrofatty mass. Prevalence of tethered cord increased as markers associated with a sacrococcygeal dimple increased (0.5% of the isolated marker group, 8.1% of the 2-marker group, and 50% of the 3-marker group). Incidence of OSD with surgical detethering in 17 other congenital anomaly patients was 11.8%, which was higher than the 1.3% in 233 patients without other congenital anomalies. CONCLUSION: Our results suggest that the presence of dorsal midline cutaneous stigmata, particularly fibrofatty masses, along with a sacrococcygeal dimple is associated with OSD or cord tethering requiring surgery. OSD should be suspected in patients with concurrent occurrence of other congenital anomalies.

A Case of Lumbar Infantile Hemangioma (SACRAL Syndrome) Accompanied by Spinal Anomaly and Dermal Sinus / 대한피부과학회지

Infantile hemangioma (IH) usually presents solely as a cutaneous manifestation, and rarely accompanies diverse anomalies such as spinal dysraphism. A 2-month-old girl presented with IH on her lumbar skin as a coin-sized red plaque with adjacent depressed skin and a child-palm-sized red plaque on her left ankle since birth. Considering the coexistence of IH and depressed skin on the midline in her lumbosacral area, magnetic resonance imaging of her spine was performed, which showed intraspinal/dermal vascular tumors with spina bifida occulta at the 12th thoracic vertebrae level. Furthermore, no neurologic deficits were observed. She has been taking oral propranolol with topical timolol to prevent neural complications and the lesions clinically improved. However, additional surgery for the intraspinal lesions was considered due to urination/defecation abnormalities since she was 13 months of age. In cases of midline IH, particularly with additional skin lesions, appropriate imaging studies to identify accompanying anomalies should be performed, and referrals to neurosurgical specialists should be considered.

Intramedullary Dermoid Cyst of the Cervical Spinal Cord ­ C5­C7 Level

Introduction: Inclusion cysts of the spinal cord are rarely intramedullary. Such cysts are commonly located in the lumbar and thoracic regions and are usually associated with congenital spinal dysraphism and dermal sinus. Intramedullary dermoid cysts in the cervical region without spinal dysraphism are extremely rare. To our knowledge, only seven such cases are reported in the literature to date. Materials and Methods: An 18-year-old female patient presented with weakness in all four limbs, more distal than proximal muscle weakness, that had been progressing for 3 years. The magnetic resonance imaging (MRI) showed an intramedullary lesion from C5­ C7 with peripheral ring enhancement. "Whorls" were observed within the lesion on T2 weighted image, with associated excavation of vertebral bodies C5­ C7. Operative procedure and findings: partial laminectomy of C5­ D1was performed. The dura was opened. A small myelotomy was made in the root entry zone. About 1.5 ml of yellowish colored fluid was drained. White shiny debris with hair, whitish pultaceous content and teeth were removed. Complete excision of cyst and its wall was performed. Results The histopathological examination revealed that the cyst wall was lined by stratified squamous epithelium with underlying dermis showing hair follicles, sebaceous glands, adipose tissue and cyst filled with keratin debris suggestive of dermoid cyst. Conclusion: The intramedullary location of the dermoid cyst in the cervical cord and the absence of any congenital spinal dysraphism make this case a very unique and rare entity and warrants its inclusion in the reported cases of rare intramedullary space occupying lesions.

Introdução: Cistos de inclusão da medula espinhal raramente são intramedulares. Tais cistos são comumente localizados nas regiões lombares e torácicas e geralmente estão associados com disrafismo espinhal congênito e sinus dérmico. Cistos dermoides intramedulares na região cervical sem a presença de disrafismo espinhal são extremamente raros. Apenas sete casos foram relatados na literatura até a data do presente estudo. Materiais e Métodos: Uma paciente de 18 anos de idade apresentou fraqueza nos quatro membros, mais distal que proximal, com três anos progressivos de duração. A ressonância magnética apresentou uma lesão intramedular de C5 a C7 com realce do anel periférico. Espirais foram observadas dentro da lesão na imagem ponderada em T2, com escavação dos corpos vertebrais C5­C7. Procedimentos operatórios e achados: realização de laminectomia parcial de C5 a D1. A dura cervical foi aberta. Uma pequena mielotomia foi feita na zona de entrada da raiz. Cerca de 1,5 ml de fluído amarelado foi extraído. Detritos brancos brilhantes com cabelo, polpa esbranquiçada e dentes foram removidos. Foi realizada a excisão completa do cisto com parede de cisto. Resultados O exame histopatológico revelou que a parede do cisto estava alinhada por epitélio escamoso estratificado com derme subjacente apresentando folículos capilares, glândulas sebáceas, tecido adiposo e cisto cheio de detritos de creatinina, sugerindo cisto dermoide. Conclusão: A posição intramedular do cisto dermoide no cordão cervical e a ausência de disrafismo espinhal congênito faz deste um caso único, uma entidade rara, e assegura sua inclusão junto aos casos relatados de lesões raras ocupando espaço intramedulares.

Independência funcional de crianças de um a quatro anos com mielomeningocele / Independencia funcional de niños de un a cuatro años con mielomeningocele / Functional independence of one- to four-year-old children with myelomeningocele

RESUMO A mielomeningocele é causada por defeito no fechamento do tubo neural. A doença representa a segunda causa de deficiência crônica no aparelho locomotor em crianças. A independência funcional depende do nível da lesão medular e sua avaliação é importante para a determinação de abordagens terapêuticas adequadas. O objetivo foi descrever a independência funcional e o nível de lesão de 15 crianças de seis meses a quatro anos com lesão medular completa causada por mielomeningocele. Foi realizado um estudo observacional do tipo transversal nas Universidades Ibirapuera e Santa Cecília. O Inventário de Avaliação Pediátrica de Incapacidade (Pediatric Evaluation of Disability Inventory - PEDI) foi aplicado com os pais, para avaliação da independência funcional nas atividades de vida diária das crianças. A escala de Padrões Internacionais para Classificação Neurológica de Lesão da Medula Espinhal da Associação Americana de Lesão Medular (International Standards for Neurological Classification of Spinal Cord Injury of the American Spinal Injury Association) foi utilizada para determinar o nível motor e sensitivo da lesão. Foram avaliados seis meninos e nove meninas (27,0±11,8 meses de idade). Três crianças apresentaram lesão torácica, nove apresentaram lesão lombar alta, duas apresentaram lesão lombar baixa e uma apresentou lesão sacral. As pontuações na PEDI variaram de 15 a 60% no domínio autocuidado, de 10 a 15% no domínio mobilidade e de 19 a 58% no domínio função social. Houve grande variabilidade no desempenho funcional de crianças com mielomeningocele, detectada pelos domínios autocuidado e função social da PEDI. As crianças apresentaram grande prejuízo no domínio mobilidade.

RESUMEN El mielomeningocele es causado por defecto en el cierre del tubo neural. La enfermedad representa la segunda causa de deficiencia crónica en el aparato locomotor en niños. La independencia funcional depende del nivel de la lesión medular y su evaluación es importante para determinar enfoques terapéuticos adecuados. El objetivo fue describir la independencia funcional y el nivel de lesión de 15 niños de seis meses a cuatro años con lesión medular completa causada por mielomeningocele. Se realizó un estudio observacional del tipo transversal en las Universidades Ibirapuera y Santa Cecilia. Se aplicó el Inventario de Evaluación Pediátrica de Discapacidad (Pediatric Evaluation of Disability Inventory, PEDI) con los padres para evaluar la independencia funcional en las actividades de vida diaria de los niños. La escala de Estándares Internacionales para la Clasificación Neurológica de la Lesión Medular de la Asociación Americana de la Lesión Medular (International Standards for Neurological Classification of Spinal Cord Injury of the American Spinal Injury Association) fue utilizada para determinar el nivel motor y sensitivo de la lesión. Se evaluaron seis niños y nueve niñas (27,0 ± 11,8 meses de edad). Tres niños presentaron lesión torácica, nueve presentaron lesión lumbar alta, dos presentaron lesión lumbar baja y una presentó lesión en el sacro. Las puntuaciones en la PEDI variaron del 15 al 60% en el dominio autocuidado, del 10 al 15% en el ámbito de la movilidad y del 19 al 58% en el ámbito de la función social. Hubo gran variabilidad en el desempeño funcional de los niños con mielomeningocele, detectada por los campos autocuidado y función social de la PEDI. Los niños presentaron gran daño en el dominio de la movilidad.

ABSTRACT Myelomeningocele is caused by neural tube closure defects and represents the second cause of locomotion disability in children. Functional independence depends on level of spine injury and assessment is important to determine proper therapeutic approaches. We aimed to describe functional Independence and level of injury in 15 children, aged one to four years and with complete spinal cord injury caused by myelomeningocele. This is an observational transversal study developed in the Ibirapuera University and Santa Cecília University. The Pediatric Evaluation of Disability Inventory (PEDI) was used to ask parents about the functional independence of children in daily life activities. The International Standards for Neurological Classification of Spinal Cord Injury of the American Spinal Injury Association was used to determine the motor and sensory levels. Nine girls and six boys were assessed (27.0 ±11.8 months of age). Three children showed thoracic level, nine showed high lumbar level, two were classified as low lumbar, and one as sacral level. PEDI scores varied from 15 to 60% on the self-care area, from 10 to 15% on mobility, and from 19 to 58% on social function. High variability was observed on the functional independence of children with myelomeningocele, detected by self-care and social function areas of PEDI. Mobility was the most affected domain.

A Comparative Evaluation Of Spinal Sonography And Magnetic Resonance In Children With Spinal Dysraphism

Background:Spinal dysraphism occurs due to failure of fusion of parts along dorsal aspect of midline structures lying along spinal axis from skin to vertebrae and spinal cord. Congenital spinal anomalies may be minimal and asymptomatic like spinal bifida occulta, or severe with marked neurological deficits like Arnold-Chiari malformation or caudal regression syndrome. Aim: To compare the results obtained from Ultrasonography and Magnetic Resonance Imaging in patients with spinal dysraphism. Methods: A total of 50 patients of age group new born to 06 months, who had signs of spinal dysraphism, were included. The patients were subjected to spinal USS and MR imaging after obtaining informed written consent from parents. All the images were reviewed by experienced radiologists who were blinded to the results of other investigative modalities. The findings of the MRI were compared with USS examination. Results: Out of 50 patients, 98 percent patient were detected to hydromyelia, 94 percent of tethering of cord, 92 percent of lumboacaral MMC and 88 percent cases were of Associated Arnold Chiari type II malformation (AC). Only 10% of patients had cervicothoracic meningomyelocele, diastematomyelia and intraspinal lipoma as their primary pathologies. Sensitivity and specificity of USS were 100 in diagnosing most of the spinal deformities. The mean time required for the MRI examination was 26.96 min; however in comparison ultrasonography took less mean time (10.62 min). Conclusion: Paediatric spinal dysraphism and associated malformations are accurately diagnosed on MRI scan. On the other hand, limited access to MR imaging together with high costs and the need for extensive preparation of the patients diminishes its suitability as a screening method for spinal dysraphism

A Retrospective Analysis of Clinical Profile and Surgical Outcome in Patients with Spinal Dysraphism at Tertiary Care Center

Background: Spinal dysraphism refers to a spectrum of congenital anomalies of the spine resulting in a defective neural arch through which meninges and / or neural elements herniated leading to a variety of clinical manifestations. Aim: This study aimed to evaluate the incidence, clinical presentations, and surgical outcome in spinal dysraphism patients. Materials and methods: This study was a retrospective study which consisted of 32 patients conducted in Academy of Medical Sciences, Pariyaram over a period of March 2015 to March 2017. All the patients were admitted in Department of Gynecology and Pediatrics. Results: The incidence was high in females 54.29% than males 45.71%. Spina bifida aperta (open type) was present in 44 patients (62.86%) and more common than Spina bifida occulta (closed) which was present in only in 26 patients which constituted 37.14%. The commonest site of occurrence of spinal dysraphism was the lumbo sacral region in 32 patients which constituted to 45.7%. Most common finding was myelomeningocele in 41 (58.6%) cases; myelocele was seen in 6 cases (8.6%). Lipomyelomeningocele was seen in 8 cases which was most common finding in closed type. The most common associated anomaly was hydrocephalus in 25 patients and next common was Arnold Chairi malformation type 11 in 20 cases. Motor weakness in the form of paraparesis or paraplegia present in25 patients preoperatively, out of which only 14 improved. Major cases of sensory deficits did not improved and remained static. In the majority of cases of 11 sphincter function, 6 cases remained status quo same as in the preoperative period. Conclusion: The most common congenital cause of disability in children is spinal dysraphism encountered by paediatric neurosurgeon. Open type spina bifida is more common than closed one .At Premlal KV. A Retrospective Analysis of Clinical Profile and Surgical Outcome in Patients with Spinal Dysraphism at Tertiary Care Center. IAIM, 2018; 5(5): 63-68. Page 64 peripheral centres, inadequatetreatmentshouldbeavoided.Spinaldysraphismpatientsshould be referred to higher tertiary centre where all the facilities are provided to the patients.

Surgical Outcomes of Pediatric Patients with Asymptomatic Tethered Cord Syndrome

STUDY DESIGN: A retrospective cohort study. PURPOSE: To examine the validity of prophylactic surgery for children with tethered cord syndrome (TCS). OVERVIEW OF LITERATURE: Prophylactic surgery for pediatric patients with TCS remains controversial. METHODS: We retrospectively analyzed the surgical outcomes of 14 children (nine boys and five girls) with asymptomatic TCS who were surgically treated at Hokkaido University Hospital between 1989 and 2015. RESULTS: The median age at the time of initial surgery for asymptomatic TCS was 28.6 months (range, 0–66 months). The median final follow-up period was 142 months (range, 7–232 months). Of the 14 children with asymptomatic TCS, 12 had lumbosacral lipoma and two had meningocele. According to the classification of spinal lipoma, two children had dorsal type, four had caudal type, two had transitional type, and four had filar type. There were no children with lipomyelomeningocele. All children were free of neurological symptoms until 94 months after the initial surgery. Subsequently, one child exhibited delayed neurological deficits and underwent a second surgery because of motor and sensory disturbances; slight sensory disturbance was noted at the final follow-up examination. Another child later showed bowel and bladder dysfunction. However, a second surgery was not performed for this child because his motor and sensory functions were normal; hence, we chose to avoid nerve injury in the case of dissecting adhesion. CONCLUSIONS: All 14 children with asymptomatic TCS were free of neurological symptoms until 94 months after the initial surgery. However, two children exhibited delayed neurological deficits at 94 months and 177 months. We believe that prophylactic surgery for asymptomatic TCS is effective for a certain period. However, because the natural history of TCS is poorly understood, strict follow-up after surgery is necessary.

Ultrasonography of the pediatric hip and spine

Ultrasonography (US) is a useful screening method for the diagnosis of developmental dysplasia of the hip (DDH) and congenital spinal anomalies in infants. In addition, US is a useful, noninvasive imaging modality for the diagnosis of transient synovitis in children. The early detection of DDH leads to a better prognosis without surgical intervention. Moreover, spinal US allows the detection of congenital malformations and can also demonstrate normal anatomy and normal variants that may resemble disorders. Therefore, radiologists should be familiar with the sonographic anatomy of the normal infant hip, scanning and measurement techniques for DDH, the US features of transient synovitis in children, spinal US techniques, and the US features of normal anatomical structures, normal variants, and congenital spinal anomalies.

Split Cord Syndrome (Type 1 Diastematomyelia): A Case Report.

Spinal dysraphism can present in various ways in the form of severity. Split cord is one of the presentations where two hemi cords are separated either by a fibrous septum or calcific spur. This may be accompanied with different other vertebral anomalies like block vertebra, hemi vertebra or spina bifida. We present a 8-years old girl who presented with weakness and gait disturbances since she started walking. She also had a tuft of hair on the back in the lumbar region. She underwent computerized tomography (CT) and magnetic resonance imaging (MRI) and was diagnosed as diastematomyelia with other associated anomalies.