Aspects épidémiologiques et thérapeutiques des pathologies neurochirurgicales chez l'enfant de moins de 5 ans à Libreville (Gabon) de 2019 à 2021 / Epidemiology and management of neurosurgical diseases of children aged 5 years or less in Libreville (Gabon) from 2019 to 2021

Introduction. Les pathologies neurochirurgicales sont un ensemble d'affections qui touche le cerveau, la moelle épinière, et les paires crâniennes nécessitant une prise en charge médico-chirurgicale. Leur incidence en Afrique sub-saharienne et plus particulièrement au Gabon est mal connue. Objectif. Décrire les aspects épidémiologiques et évolutifs des pathologies neurochirurgicales chez l'enfant de moins 5 ans à Libreville. Patients et méthodes. Il s'agit d'une étude rétrospective descriptive et analytique, multicentrique portant sur des patients de moins de 5ans pris en charge pour une affection neurochirurgicale de Janvier 2019 à Décembre 2021 à Libreville. Résultats. Sur 4811 enfants hospitalisés, 130 répondaient aux critères d'inclusion (prévalence : 2,7%). L'âge moyen était de 13,1 mois. Le sex-ratio était de 1,3. Les grossesses étaient mal suivies dans 72,2% des cas. Les pathologies neurochirurgicales malformatives représentaient 63,5%. L'hydrocéphalie était la plus observée dans 71,2%. Sur les 115 enfants, 71 ont bénéficié d'un traitement chirurgical, soit un taux de 61,7% et le taux de mortalité globale était de 6,1%. Dans le groupe des enfants présentant une malformation congénitale, 8,2% n'avaient pas été traités, le taux de mortalité était de 8,2%. Les complications à court termes étaient dominées par les infections. Conclusion. Les pathologies neurochirurgicales sont en fréquentes dans notre contexte. Une prise en charge immédiate reste de mise, nécessitant donc un plateau technique de pointe pour améliorer l'évolution à court terme voire à moyen et long terme de ces affections.

Introduction. Neurosurgical pathologies are a set of conditions that affect the brain, spinal cord, and cranial pairs requiring medical and surgical management. Their incidence in subSaharan Africa and more particularly in Gabon is poorly known. Objective. To describe the epidemiological and evolutionary aspects of neurosurgical pathologies in children under 5 years old in Libreville. Patients and methods. This is a retrospective descriptive and analytical, multicenter study of patients under 5 years of age treated for a neurosurgical condition from January 2019 to December 2021 in Libreville. Results. Of the 4811 hospitalized children, 130 met the inclusion criteria (prevalence of 2.7%) and 15 were excluded for incomplete records. The average age was 13.1 months. The age group of 28 days-1 year was the most observed. The sex ratio was 1.3. Pregnancies were poorly followed in 72.2% of cases. Malformative neurosurgical pathologies accounted for 63.5% of cases. Hydrocephalus was the most observed in 71.2%. Of the 115 children, 71 received surgical treatment, a rate of 61.7% and the overall mortality rate was 6.1%. In the group of children with congenital malformation, 8.2% had not been treated, the mortality rate was 8.2%. Short-term complications were dominated by infections. Conclusion. Neurosurgical pathologies are frequent in our context. Immediate care remains essential, therefore requiring a cutting-edge technical platform to improve the short-term or even medium- and long-term evolution of these conditions.

Presentación de un meningocele lumbosacro en un adulto / Case Presentation of a ruptured lumbosacral meningocele in an adult patient

La espina bífida, o mielodisplasia, es una anomalía de origen multifactorial congénita que se presenta con mayor frecuencia durante el desarrollo embrionario. Se produce por el cierre parcial de los pliegues neurales conjuntamente con una fusión defectuosa de los arcos vertebrales. Su clínica es variable e incluye una serie de manifestaciones como expresión del compromiso neurológico. El diagnóstico se basa en la presencia de las manifestaciones clínicas ayudado de estudios imagenológicos. La corrección quirúrgica del defecto es la conducta terapéutica que se preconiza como adecuada. Se presenta el caso de una paciente de 34 años de edad con mielomeningocele no corregido en edad infantil que se presenta con complicaciones infecciosas y secuelas neurológicas. Se administró esquema de antibioticoterapia con varios antibióticos de amplio espectro, y se decidió intervenir quirúrgicamente, con lo que se logró el cierre del orificio comunicante de la región espinal con el exterior. Además, se reconstruyó la zona aledaña al mielomeningocele para evitar posible sepsis del Sistema Nervioso Central. La paciente tuvo una evolución favorable y fue dada de alta hospitalaria a los 7 días posteriores a la intervención quirúrgica sin secuelas neurológicas(AU)

Spine bifida, or myelodysplasia, is a multifactorial congenital anomaly that occurs most frequently during embryonic development. It is produced by the partial closure of the neural folds together with a defective fusion of the vertebral arches. Its clinic is variable and includes a series of manifestations as an expression of neurological compromise. The diagnosis is based on the presence of clinical manifestations, aided by imaging studies. Surgical correction of the defect is the therapeutic conduct that is recommended as adequate. This report presents the case of a 34-year-old patient with uncorrected myelomeningocele in childhood who presented with infectious and neurological sequelae complications(AU)

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.

Management of neurogenic bladder dysfunction in children update and recommendations on medical treatment

ABSTRACT Introduction: Defective closure of the neural tube affects different systems and generates sequelae, such as neurogenic bladder (NB). Myelomeningocele (MMC) represents the most frequent and most severe cause of NB in children. Damage of the renal parenchyma in children with NB acquired in postnatal stages is preventable given adequate evaluation, follow-up and proactive management. The aim of this document is to update issues on medical management of neurogenic bladder in children. Materials and Methods: Five Pediatric Urologists joined a group of experts and reviewed all important issues on "Spina Bifida, Neurogenic Bladder in Children" and elaborated a draft of the document. All the members of the group focused on the same system of classification of the levels of evidence (GRADE system) in order to assess the literature and the recommendations. During the year 2020 the panel of experts has met virtually to review, discuss and write a consensus document. Results and Discussion: The panel addressed recommendations on up to date choice of diagnosis evaluation and therapies. Clean intermittent catheterization (CIC) should be implemented during the first days of life, and antimuscarinic drugs should be indicated upon results of urodynamic studies. When the patient becomes refractory to first-line therapy, receptor-selective pharmacotherapy is available nowadays, which leads to a reduction in reconstructive procedures, such as augmentation cystoplasty.

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).

Epidemiological Study of Patients with Spinal Cord Injury Treated in POLEM, a Specialized Clinic in São Paulo State ­ Brazil

Objective To analyze the epidemiological profile of patients with spinal cord injury treated at POLEM ­ Associação de Apoio às Pessoas comLesão Medular (Association for Supporting People with Spinal Cord Injury). Method The population studied comprised 113 patients with spinal cord injury, of traumatic or nontraumatic etiology, and the data obtained were compared with those of other institutions. Results Of the 113 patients, 70.8% were male and 29.2% female. Traumatic lesions were responsible for 54% of the patients, and nontraumatic for 46%. Of the patients with traumatic injury, 90.2% were male, the main cause being traffic accidents. In nontraumatic lesions, women were the most affected, 51.9%; and dysraphism and myelitis were the main causes (31% and 21%, respectively). Conclusion The results showed an important incidence of spinal cord injury due to trauma,mainly affecting young individuals of productive age and low educational level, representing high economic and social costs. The data found in the present study are similar to those of other studies performed in our country.

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

Sexuality of Female Spina Bifida Patients: Predictors of a Satisfactory Sexual Function / Sexualidade feminina em pacientes com espinha bífida: preditores de uma função sexual satisfatória

Abstract Objective To assess the sexual function of women with spina bifida (SB), and to verify the factors that influence their sexual function. Methods A cross-sectional study in which a validated female-specific questionnaire was applied to 140 SB female patients from four different cities (Porto Alegre, Brazil; and Barcelona, Madrid, and Málaga, Spain) between 2019 and 2020. The questionnaires collected data on the clinical characteristics of SB, and female sexual function was assessed using the 6-item version of the Female Sexual Function Index (FSFI-6) validated to Portuguese and Spanish. Results Half of the patients had had sexual activity at least once in the life, but most (57.1%) did not use any contraception method. Sexual dysfunction was present in most (84.3%) patients, and all sexual function domains were impaired compared those of non-neurogenic women. The presence of urinary and fecal incontinence significantly affected the quality of their sexual activity based on the FSFI-6. Conclusion The specific clinical aspects of the SB patients, such as urinary and fecal incontinence, should be properly addressed by their doctors, since they are associated with reduced sexual activity and lower FSFI-6 scores in the overall or specific domains. There is also a need to improve gynecological care among sexually-active SB patients, since most do not use any contraceptive methods and are at risk of inadvertent pregnancy.

Resumo Objetivo Analisar a função sexual de pacientes do sexo feminino com espinha bífida (EB), e avaliar quais fatores influenciam na função sexual. Métodos Uma pesquisa transversal em que um questionário validado para mulheres foi aplicado em 140 pacientes com EB de quatro cidades diferentes (Porto Alegre, Brasil; e Barcelona, Madri e Málaga, Espanha) entre 2019 e 2020. Os questionários coletaram dados sobre características clínicas da espinha bífida, e a função sexual feminina foi avaliada com a versão de seis itens do Índice de Funcionamento Sexual Feminino (IFSF-6) nas versões validadas para português e espanhol. Resultados Metade das pacientes havia praticado atividade sexual pelo menos uma vez na vida, mas a maioria (57.1%) não utilizava nenhum método contraceptivo. A disfunção sexual estava presente na maioria das pacientes (84.3%), sendo todos os domínios de função sexual prejudicados em comparação com os de mulheres não neurogênicas. A presença de incontinência urinária e fecal afetou significativamente a qualidade da atividade sexual das pacientes. Conclusão Aspectos clínicos específicos da EB, como incontinência urinária e fecal, devem ser adequadamente abordados pelos médicos assistentes, visto que estão associados à redução na atividade sexual e piores resultados no IFSF-6. Também é necessário melhorar o atendimento ginecológico das pacientes sexualmente ativas, uma vez que a maioria não utiliza métodos contraceptivos e corre o risco de gravidez inadvertida.

Mielomeningocele: actualización para la práctica clínica / Myelomeningocele: update for clinical practice

El mielomeningocele es una de las malformaciones congénitas más frecuentes en Honduras, que se caracteriza por un cierre anormal de la lámina posterior de los cuerpos vertebrales, con la exposición de las estructuras nerviosas. El propósito de esta revisión fue recopilar información que apoye la práctica clínica oportuna en pacientes con mielomeningocele, especialmente en la literatura médica hondureña, reforzada con literatura de otras revistas médicas nacionales e internacionales, en la base de datos PubMed y LILACS, para el periodo 1985- 2018. En conclusión, dar un manejo oportuno proporciona un mejor pronóstico y calidad de vida a los pacientes con defectos del tubo neural...(AU)

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.

Translation and validation of the brazilian version of the quality of life assessment in spina bifida questionnaire for children and teenagers / Tradução e validação da versão brasileira do questionário quality of life assessment in spina bifida para crianças e adolescentes

ABSTRACT Objective: To assess the reliability and validity of the Quality of Life Assessment in Spina Bifida (QUALAS), children and teenager's versions (QUALAS C and T, respectively). This is the first self-applicable quality of life assessment tool for patients under 13 years of age, which also addresses the issue of urinary and fecal incontinence. Methods: Two urologists performed the translation of both QUALAS versions. A commission produced a consensus version (Version 2), which was applied as a pilot study to define Version 3. It was then backtranslated into English and compared with the original version for equivalence of concepts. Internal consistency with Cronbach's alpha and the intraclass correlation coefficient (ICC) reproducibility was analyzed after two assessments with an interval from two to four weeks. Convergent and divergent validities between the QUALAS and a generic health-related quality of life questionnaire, the KIDSCREEN-27, were studied through Pearson's correlation. Results: The reliability analysis showed good internal consistency for QUALAS-C (α=0.73) and QUALAS-T (α=0.79) and good reproducibility in both questionnaires (QUALAS-C - ICC=0.86; QUALAS-T - ICC=0.92). For QUALAS-C convergent validity, there was a low correlation between its items (r=0.35). In addition, a low correlation was also found in the divergent validity analysis, when compared to the KIDSCREEN-27 (r≤0.33). Convergent and divergent validities of the QUALAS-T questionnaire had similar results: r=0.46 and r≤0.49, respectively. Conclusions: After the adaptation and validation process, QUALAS-C and QUALAS-T questionnaires showed to be reliable and valid instruments for measuring the health-related quality of life of children and teenagers with spina bifida aged 8 years or older.

RESUMO Objetivo: Avaliar a confiabilidade e a validade do questionário QUALAS (Quality of Life Assessment in Spina Bifida) nas versões para crianças e adolescentes (QUALAS-C e QUALAS-T, respectivamente). Este é o primeiro instrumento autoaplicável de avaliação da qualidade de vida para pacientes menores de 13 anos e que também aborda a questão das incontinências urinária e fecal. Métodos: Dois urologistas realizaram a tradução das duas versões do QUALAS. Uma comissão produziu uma versão de consenso (Versão 2), a qual foi aplicada no estudo piloto para definir a Versão 3. Esta foi retrotraduzida para o inglês e comparada à versão original para equivalência de conceitos. Para verificar a confiabilidade, analisou-se a consistência interna com o alfa de Cronbach e a reprodutibilidade com o coeficiente de correlação intraclasse (CCI) após duas aplicações do questionário em intervalo de duas a quatro semanas. As validades convergente e divergente foram estudadas por meio da correlação de Pearson entre o QUALAS e um questionário genérico de qualidade de vida relacionada à saúde, o KIDSCREEN-27. Resultados: A análise de confiabilidade revelou que ambos os questionários apresentaram boa consistência interna (QUALAS-C - α=0,73; QUALAS-T - α=0,79) e boa reprodutibilidade (QUALAS-C - CCI=0,86; QUALAS-T - CCI=0,92). Na análise da validade convergente do QUALAS-C, observou-se baixa correlação entre os itens (r=0,35). Além disso, a análise da validade divergente também demonstrou baixa correlação quando comparada ao KIDSCREEN-27 (r≤0,33). As validades convergente e divergente do questionário QUALAS-T tiveram resultados semelhantes: r=0,46 e r≤0,49, respectivamente. Conclusões: Após o processo de adaptação e validação, pode-se afirmar que os questionários QUALAS-C e QUALAS-T são instrumentos confiáveis e válidos para a mensuração da qualidade de vida relacionada à saúde de crianças e adolescentes com espinha bífida a partir dos 8 anos de idade.

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.

Recursos fisioterapêuticos nas disfunções miccionais em injúrias espinhais congênitas / Physiotherapeutic resources in voiding dysfunctions in congenital spinal injuries

Malformações congênitas são alterações morfológicas com origem no desenvolvimento embrionário e podem ser devido a causas genéticas, ambientais ou ambas. Em indivíduos que sofrem de injúrias espinhais congênitas, a bexiga neurogênica (BN) é um dos acometimentos com maior impacto na vida diária e o principal objetivo urológico é melhorar o manejo urinário e a continência social, para diminuir altas pressões vesicais e prevenir danos renais. Esta condição reflete diversas repercussões, como a diminuição na qualidade de vida, progressão para procedimentos invasivos, lesão renal e ao óbito. Objetivo: Revisar sistematicamente os estudos publicados nos últimos 10 anos a respeito da atuação da fisioterapia na incontinência urinária (IU) nas injúrias espinhais congênitas. Métodos: Revisão sistemática de literatura realizada através de busca, entre os anos de 2009 a 2019, nas bases de dados eletrônicas PubMed, Bireme e PEDro. Resultados: Não houve grande conformidade em relação às técnicas utilizadas, mas sim em relação aos desfechos analisados, sendo verificado estudos sobre IU na espinha bífida. Conclusão: A fisioterapia mostrou-se benéfica para os casos de IU nas injúrias espinhais congênitas, melhorando os parâmetros urodinâmicos e o desfecho no diário miccional. (AU)

Congenital malformations are morphological changes originating from embryonic development and can be due to genetic, environmental or both. In individuals suffering from congenital spinal injuries, the neurogenic bladder (BN) is one of the disorders with the greatest impact on daily life and the main urological objective is to improve urinary management and social continence, to decrease high bladder pressures and prevent kidney damage. This condition reflects several repercussions, such as a decrease in quality of life, progression to invasive procedures, kidney injury and death. Objective: To systematically review the studies published in the last 10 years regarding the role of physical therapy in urinary incontinence (UI) in congenital spinal injuries. Methods: Systematic literature, between the years 2009 to 2019, in the electronic databases Pubmed, Bireme and PEDro. Results: There was no great conformity in relation to the techniques used, but in relation to the analyzed outcomes, with studies on UI in spina bifida being verified. Conclusion: Physical therapy proved to be beneficial for cases of UI in congenital spinal injuries, improving urodynamic parameters and the outcome in the voiding diary. (AU)

A review of the epidemiology, post-neurosurgical closure complications and outcomes of neonates with open spina bifida

Background. Spina bifida (SB) is a neural tube defect (NTD) that has an increased risk of fatal and disabling effects if not repaired early, i.e. within the first 24 to 48 hours of life. Its diagnosis holds an increased burden for the patient and the caregiver owing to secondary complications. The effects of the disease are detrimental even with early repair, because of the long-term disabling nature of the disease.Objective. This retrospective study aimed to assess the effects of demographics, immediate post-surgical complications and impact of time to surgical intervention on the outcome of neonates with open SB (OSB) admitted to the neonatal intensive care unit (NICU) at Inkosi Albert Luthuli Central Hospital (IALCH) in KwaZulu-Natal, South Africa (SA), between January 2011 and December 2015.Methods. A retrospective chart review was conducted at the NICU of IALCH. All neonates diagnosed with SB were identified. The study period was from 1 January 2011 to 31 December 2015. Data were collected from the IALCH electronic database. All neonates with SB admitted to the IALCH NICU were included; any patient who presented beyond the neonatal period (i.e. >28 days) was excluded from the study. Data collected included maternal demographics. Additionally, neonatal history was reviewed and post surgery complications evaluated. Outpatient management post discharge was reviewed.Results. One hundred and fifty neonates were included (58% male). The mean (standard deviation) maternal age was 26.7 (6.6) years. Only 10% had an antenatal diagnosis of OSB. Seventy-eight percent were born at term and 22% prematurely. The lumbar/sacral region was the most commonly affected. More males (14%) had thoraco/lumbar lesions than females (7.8%). Forty-eight percent presented before 3 days of life (early presentation). In the late-presentation group, there was an association with wound sepsis (p=0.003). Twenty-five percent were repaired between days 0 and 3 of life and 75% after 3 days. Postoperative complications in patients whose open SBs were repaired beyond 3 days of life were not statistically significant compared with those with early repair; all were p>0.05. There was a borderline association of prolonged hospitalisation with wound sepsis (p=0.07). Long-term outcomes showed that 68% had lower limb dysfunction, 18% urological complications, 14% limb deformity, and 11% hydrocephalus. A minority had psychomotor (7%) and developmental (15%) disorders. Ten percent required readmission secondary to shunt complications, and 7% died. Conclusion. SB remains a significant disease burden that affects outcome and survival of neonates in SA. Lack of good antenatal care, which includes early ultrasound and timely referral to centres, are barriers to good outcomes. Long-term follow-up is also necessary to prevent morbidity

Management of pregnancy in a woman with spina bifida: A case report / Philippine Journal of Obstetrics and Gynecology

@#With advancements in corrective surgery for spina bifida since the 1960s, affected women are now reaching adulthood and achieving pregnancies. However, the implications on reproductive health?especially in pregnancy?are rarely studied. We are presenting a case of a woman born with spina bifida who has undergone surgical repair and closure of the defect at 4 years old, as well as surgical management for tethered cord at 13 years old. She lived productively into adulthood, became pregnant and delivered vaginally to a healthy baby despite various obstetrical challenges. In the care for this patient, we faced recurrent urinary tract infections, the risk of preterm delivery and the task of coordinated multidisciplinary care to solve dilemmas in decision making. Through this case report, we were able to share our experience, explore the most recent evidence to support our clinical decisions and hopefully serve as a basis for future clinical practice recommendations.

Perfil epidemiológico de mortalidade por espinha bífida / Epidemiological profile of mortality from Spina Bifida

Objetivo: Avaliar o perfil epidemiológico nacional de mortalidade por espinha bífida. Métodos: Trata-se de estudo observacional, descritivo, de série temporal, a partir de dados obtidos da plataforma eletrônica do Departamento de Informática do Sistema Único de Saúde entre os anos de 2005 e 2015. Resultados: Nesse período, as proporções de óbitos infantis relacionados à espinha bífida diminuíram. As Regiões Sul e Sudeste mantiveramse abaixo da média nacional, e as demais permaneceram acima, corroborando o maior apoio técnico nas regiões consideradas referências em saúde no país. As maiores diminuições proporcionais nos coeficientes de mortalidade infantil ocorreram no Nordeste e no Centro-Oeste, de 351,55 a 155,56 e de 809,52 a 290,32, respectivamente. Isso pôde ser justificado por essas duas regiões apresentarem maiores proporções de óbitos. Conclusão: Com a atenuação de outras causas de mortalidade infantil, as malformações evidenciaram-se. O acompanhamento pré-natal, a adoção de estilo de vida saudável pelas gestantes e a prevenção dos fatores de risco para defeitos de fechamento do tubo neural, sobretudo pela suplementação com ácido fólico, merecem destaque na redução do número de óbitos infantis e na perpetuação da vida.

Objective: To evaluate the national epidemiological profile of mortality from Spina Bifida. Methods: This is an observational, descriptive study of a time series, based on data obtained from the electronic platform of the Department of Informatics of the Unified Health System (DATASUS) between 2005 and 2015. Results: In this period, the proportions of infantile deaths related to spina bifida decreased. The Southern and Southeastern regions remained below the national average, while the others remained above, resulting in a greater technical support from the regions considered health references in the country. The largest proportional decreases in infant mortality coefficients took place in the Northeast and Midwest, from 351.55 to 155.56, and from 809.52 to 290.32, respectively. This can be justified by the fact that these two regions have higher proportions of deaths. Conclusion: Because of the attenuation of other causes of infant mortality, the malformations were evidenced. Prenatal follow-up, the adoption of a healthy lifestyle by pregnant women, and the prevention of risk factors for neural tube defects, especially through folic acid supplementation, shall be highlighted for the reduction in the number of infant deaths, and for perpetuation of life