Prenatal genetic analysis of a fetus with Miller-Dieker syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for fetus with bilateral lateral ventriculomegaly.@*METHODS@#Fetus umbilical cord blood and peripheral blood samples of its parents were collected. The fetus was subjected to chromosomal karyotyping, whilst the fetus and its parents were subjected to array comparative genomic hybridization (aCGH). The candidate copy number variation (CNV) were verified by qPCR, Application goldeneye DNA identification system was used to confirm the parental relationship.@*RESULTS@#The fetus was found to have a normal karyotype. aCGH analysis indicated that it has carried a 1.16 Mb deletion at 17p13.3, which partially overlapped with the critical region of Miller-Dieker syndrome (MDS), in addition with a 1.33 Mb deletion at 17p12 region, which is associated with hereditary stress-susceptible peripheral neuropathy (HNPP). Its mother was also found to harbor the 1.33 Mb deletion at 17p12. qPCR analysis confirmed that the expression levels of genes from the 17p13.3 and 17p12 regions were about the half of that in the normal control, as well as the maternal peripheral blood sample. Parental relationship was confirmed between the fetus and its parents. Following genetic counseling, the parents has chosen to continue with the pregnancy.@*CONCLUSION@#The fetus was diagnosed with Miller-Dieker syndrome due to the de novo deletion at 17p13.3. Ventriculomegaly may be an important indicator for prenatal ultrasonography in fetuses with MDS.

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.

Apresentação clínica de osteogênese XV em um menino brasileiro de 4 anos / Clinical presentation of osteogenesis imperfecta XV in a four-year-old brazilian boy

Introdução: Osteogênese Imperfeita (OI) é uma doença genética rara com fragilidade óssea. A classificação inclui muitos tipos. Além do risco de recorrência, o manejo pode variar com o tipo de OI. Relato do caso: Apresentamos um paciente do sexo masculino nascido com 39 semanas, de pais não consanguíneos e saudáveis. A hidrocefalia foi diagnosticada no pré-natal. Com 50 dias de vida, detectamos muitas fraturas e calos ósseos. O teste molecular identificou uma deleção em homozigose do éxon 4 do gene WNT1. Considerações finais: Concluímos que o caso apresentado tinha características clínicas de OI XV, e o teste molecular foi fundamental para o diagnóstico preciso e aconselhamento genético.

Introduction: Osteogenesis Imperfecta (OI) is a rare genetic disease with bone fragility. The classification includes many types. In addition, the risk of a recurrence, the management can vary with the kind of OI. Case report: We report a male patient born at 39 weeks from non-consanguineous healthy parents. The patient was diagnosed with Hydrocephalus at prenatal. At 50 days of life, we detected many fractures and bone calluses. The molecular test identified a homozygous deletion of exon 4 of the WNT1 gene. Final considerations: We conclude this case had clinical features of OI XV, and the molecular test was fundamental for the precise diagnosis and the genetic counseling.

Toxoplasmosis congénita con enfermedad neurológica severa en un hospital de referencia del Perú / Congenital toxoplasmosis with severe neurological disease in a referral hospital in Peru

RESUMEN El propósito del presente estudio fue describir las características epidemiológicas, clínicas, y terapéuticas de pacientes con diagnóstico de toxoplasmosis congénita (TC) con enfermedad neurológica severa. Se revisaron las historias clínicas de los pacientes menores de 1 año con serología IgM positiva para Toxoplasma gondii y compromiso encefálico, ocular y/o auditivo. El estudio se realizó en el Instituto Nacional de Salud del Niño San Borja (INSN-SB) en Lima, Perú. Se evaluaron a 21 pacientes con diagnóstico de TC, el 57,1% fueron del sexo femenino y la mediana de edad al momento del diagnóstico fue 3,1 meses (RIC: 1,7-7,3). Las principales manifestaciones del sistema nervioso central fueron hidrocefalia (76,2%), calcificaciones intracraneales (52,4%), microcefalia (42,9%), y convulsiones (25,6%); la manifestación ocular más frecuente fue la coriorretinitis (38,1%). En conclusión, 64% de los casos de TC tuvieron una o más manifestaciones de enfermedad neurológica severa.

ABSTRACT The aim of this study was to describe the epidemiological, clinical, and therapeutic characteristics of patients diagnosed with congenital toxoplasmosis (CT) with severe neurological disease. We reviewed the medical records of patients under 1 year of age with positive IgM test for Toxoplasma gondii and brain, eye, and/or hearing involvement. This study was carried out at the Instituto Nacional de Salud del Niño San Borja (INSNSB), Lima, Peru. Twenty-one patients diagnosed with CT were evaluated; 57.1% were female, and the median age at diagnosis was 3.1 months (IQR: 1.7-7.3). The main central nervous system manifestations were hydrocephalus (76.2%), intracranial calcifications (52.4%), microcephaly (42.9%), and convulsions (25.6%); the most frequent ocular manifestation was chorioretinitis (38.1%). In conclusion, 64% of CT cases had one or more manifestations of severe neurological disease.

Meningioma de la fosa posterior con hidrocefalia secundaria a resección quirúrgica / Posterior fossa meningioma with hydrocephalus after surgical resection

RESUMEN Los meningiomas de la fosa posterior representan el 10 % en relación con los otros sitios en los que pueden estar localizados. Estas lesiones pueden provocar compromiso de la circulación de líquido cerebroespinal. Se presentó el caso de una paciente de 67 años de edad con antecedentes previos de trastornos en la deambulación, se observó dificultad para caminar, en 15 días de evolución. Se realizó diagnóstico por tomografía de lesión ocupante de espacio localizada en fosa posterior. La paciente fue operada y secundariamente presentó hidrocefalia aguda, no comunicante, se le realizó derivación ventrículo-peritoneal. No existieron otras complicaciones asociadas a la intervención quirúrgica.

ABSTRACT Posterior fossa meningiomas represent 10% in relation to the other sites where they may be located. These lesions can compromise cerebrospinal fluid circulation. We present a 67-year-old female patient with a previous history of walking disorders, observing walking difficulty with 15 days of evolution. Diagnosis was made by a tomography of the space-occupying lesion located in the posterior fossa. The patient underwent surgery and subsequently developed acute non-communicating hydrocephalus, for which a ventricle-peritoneal shunt was performed. No other complications were associated with surgical intervention.

Avances recientes en el diagnóstico imagenológico de la hidrocefalia en niños. Revisión de la literatura de los últimos seis años / Recent advances of the imagological diagnosis of hydrocephalus in children. Review of the literature of the last six years

Resumen La hidrocefalia es un problema de salud frecuente en pediatría, en particular durante el primer mes de vida. La incidencia en América Latina es una de las más altas del mundo. En Colombia no existen datos representativos sobre la incidencia real de esta enfermedad. Recientes hallazgos relacionados con la dinámica del líquido cefalorraquídeo permitieron proponer nuevos modelos sobre la fisiopatología de la hidrocefalia que, junto con los hallazgos en la Resonancia Magnética, han llevado a tener una mejor comprensión de la enfermedad. El objetivo de este articulo es realizar una revisión de la información disponible en la literatura sobre los avances en la fisiopatología de la enfermedad y los hallazgos en neuroimágenes, además de realizar una breve revisión sobre el papel de estas en el diagnóstico y seguimiento de los pacientes. Se realizó una revisión bibliográfica con términos MeSH, en las bases de datos de PUBMED, OVID y SCOPUS con artículos publicados en los últimos 6 años, seleccionado un total de 30 artículos que abordaron el tema de forma integral. Los nuevos hallazgos descritos como lo son el sistema glinfático y el papel de las AQP4 y los avances en las neuroimágenes, sobre todo de la resonancia magnética, han ayudado a comprender mejor esta entidad, apoyando el desarrollo de un nuevo modelo de la dinámica del líquido cefalorraquídeo y a partir de él diferentes explicaciones sobre la fisiopatología. MÉD.UIS.2022;35(1): 17-29.

Abstract Hydrocephalus is a frequent health problem in pediatrics, particularly during the first month of life. The incidence in Latin America is one of the highest in the world. In Colombia there are no representative data. Recent findings related to the dynamics of cerebrospinal fluid allowed proposals of new models on the pathophysiology of hydrocephalus that, along with new findings on MRI, have led to a better understanding of the disease. The aim of this work is to review the information available in the literature about the progress in the pathophysiology of the disease and neuroimaging findings, in addition to conducting a brief review on the role of these in the diagnosis and follow-up of patients. A bibliographic review with MeSH terms was carried out in PUBMED, OVID and SCOPUS databases, with articles published in the last 6 years. 30 articles that dealt with the theme in a comprehensive way were included. New findings described as the glymphatic system and the role of AQP4, along with advances in neuroimaging, especially MRI, have helped to better understand hydrocephalus, supporting the development of a new model of cerebrospinal fluid dynamics, and based on it, different explanations regarding its pathophysiology. MÉD.UIS.2022;35(1): 17-29.

Nomogram for predicting post-traumatic hydrocephalus after decompressive craniectomy for traumatic brain injury

SUMMARY OBJECTIVE: This study aimed to develop and validate a practical nomogram to predict the occurrence of post-traumatic hydrocephalus in patients who have undergone decompressive craniectomy for traumatic brain injury. METHODS: A total of 516 cases were enrolled and divided into the training (n=364) and validation (n=152) cohorts. Optimal predictors were selected through least absolute shrinkage and selection operator regression analysis of the training cohort then used to develop a nomogram. Receiver operating characteristic, calibration plot, and decision curve analysis, respectively, were used to evaluate the discrimination, fitting performance, and clinical utility of the resulting nomogram in the validation cohort. RESULTS: Preoperative subarachnoid hemorrhage Fisher grade, type of decompressive craniectomy, transcalvarial herniation volume, subdural hygroma, and functional outcome were all identified as predictors and included in the predicting model. The nomogram exhibited good discrimination in the validation cohort and had an area under the receiver operating characteristic curve of 0.80 (95%CI 0.72-0.88). The calibration plot demonstrated goodness-of-fit between the nomogram's prediction and actual observation in the validation cohort. Finally, decision curve analysis indicated significant clinical adaptability. CONCLUSION: The present study developed and validated a model to predict post-traumatic hydrocephalus. The nomogram that had good discrimination, calibration, and clinical practicality can be useful for screening patients at a high risk of post-traumatic hydrocephalus. The nomogram can also be used in clinical practice to develop better therapeutic strategies.

Tumor de hipófise em paciente com hidrocefalia: um desafio diagnóstico / Pituitary tumor in a patient with hydrocephalus: a diagnostic challenge

RESUMO A hidrocefalia é definida como a dilatação ventricular pelo aumento da pressão intraventricular e intracraniana quando não tratada ou por insucesso do tratamento. Muitas vezes, leva ao dano das vias ópticas, podendo causar atrofia óptica, devido à proximidade dessas vias com o ventrículo lateral quando ocorre a dilatação. Assim como a hidrocefalia pode levar à atrofia óptica, outras patologias também podem. Tumores hipofisários compartilham desse mesmo sinal, além de causar hemianospsia bitemporal quando o tumor comprime quiasma óptico. Ademais, a hemianopsia bitemporal é o distúrbio visual mais comum encontrado em pacientes com tumor de hipófise. Os tumores de hipófise, por exemplo, geram manifestações clínicas que podem estar relacionadas à disfunção da glândula ou aos efeitos mecânicos da expansão tumoral. Sinais e sintomas visuais estão mais ligados ao efeito mecânico do tumor. Assim, muitas vezes, o paciente procura o oftalmologista antes do endocrinologista. Neste caso, analisaremos uma paciente portadora de hidrocefalia que apresentava, concomitantemente, um tumor hipofisário, e a investigação oftalmológica fez toda a diferença no tratamento da paciente.

ABSTRACT Hydrocephalus is defined as ventricular dilation caused by increased intraventricular and intracranial pressure when untreated or due to treatment failure. Optical pathways can often cause optic atrophy due to the proximity to the lateral hazard when dilation occurs. Hydrocephalus can lead to optic atrophy, as well as other pathologies. Pituitary tumors share this same sign, in addition to causing bitemporal hemianopia when it compresses the optic chiasm. In addition, bitemporal hemianopia is the visual disturbance most commonly found in patients with pituitary tumors. Pituitary tumors, for example, have clinical manifestations that may be related to gland dysfunction, or to mechanisms of tumor expansion. Visual signs and symptoms are more linked to the mechanical effect of the tumor. Therefore, the patient usually seeks the ophthalmologist before the endocrinologist. In this case, we analyzed a patient with hydrocephalus who presented, at the same time, a pituitary tumor, and the ophthalmological investigation made all the difference in the treatment of the patient.

Le pseudo kyste abdominal: une complication de la dérivation ventricule péritonéale à propos d'un cas / The abdominal pseudocyst: a complication of ventriculoperitoneal bypass about a case

Le pseudokyste abdominal est une complication rare pouvant survenir chez les sujets porteurs d'une dérivation ventriculo-péritonéale (DVP). Nous rapportons le cas d'un adolescent de 11 ans, chez qui une DVP a été réalisée pour une hydrocéphalie congénitale. Il présentait une distension abdominale progressive sans notion de troubles de transit. L'imagerie (échographie, urosacnner) a permis de mettre en évidence un épanchement péritonéal de grande abondance organisé, à paroi fine et régulière, exerçant un effet de masse sur la vessie et les uretères, responsable d'une urétérohydronéphrose bilatérale. Le bout distal du cathéter de DVP a été visualisé dans la collection

The abdominal pseudocyst is a rare complication that can occur in subjects with a ventriculoperitoneal drain (VPD). We report the case of an 11-year-old adolescent with congenital hydrocephalus antecedent, for whom a ventriculoperitoneal shunt was made. He presented a progressive abdominal distension without notion of transit disorders. Abdominal ultrasound and uroscanner revealed an organized peritoneal effusion of great abundance, thin and regular wall, exerting a mass effect on the bladder and the ureters responsible for bilateral uretero-hydronephrosis. Above all, it has made it possible to individualize the distal ventriculo-peritoneal bypass catheter projecting in the effusion

β-Catenin Deletion in Regional Neural Progenitors Leads to Congenital Hydrocephalus in Mice / 神经科学通报·英文版

Congenital hydrocephalus is a major neurological disorder with high rates of morbidity and mortality; however, the underlying cellular and molecular mechanisms remain largely unknown. Reproducible animal models mirroring both embryonic and postnatal hydrocephalus are also limited. Here, we describe a new mouse model of congenital hydrocephalus through knockout of β-catenin in Nkx2.1-expressing regional neural progenitors. Progressive ventriculomegaly and an enlarged brain were consistently observed in knockout mice from embryonic day 12.5 through to adulthood. Transcriptome profiling revealed severe dysfunctions in progenitor maintenance in the ventricular zone and therefore in cilium biogenesis after β-catenin knockout. Histological analyses also revealed an aberrant neuronal layout in both the ventral and dorsal telencephalon in hydrocephalic mice at both embryonic and postnatal stages. Thus, knockout of β-catenin in regional neural progenitors leads to congenital hydrocephalus and provides a reproducible animal model for studying pathological changes and developing therapeutic interventions for this devastating disease.

Simultaneous Cranioplasty and External Ventricular Drain Implantation in Patients with Hydrocephalus: Case Series and Literature Review

Introduction The increase in intracranial pressure (ICP) is a neurological complication resulting from numerous pathologies that affect the brain and its compartments. Therefore, decompressive craniectomy (DC) is an alternative adopted to reduce ICP in emergencies, especially in cases refractory to clinical therapies, in favor of patient survival. However, DC is associated with several complications, including hydrocephalus (HC). The present study presents the results of an unusual intervention to this complication: the implantation of an external ventricular drain (EVD) in the intraoperative period of cranioplasty (CP). Methods Patients of both genders who presented with HC and externalization of the brain through the cranial vault after decompressive hemicraniectomy and underwent EVD implantation, to allow the CP procedure, in the same surgical procedure, were included. Results Five patients underwent DC due to a refractory increase in ICP, due to automobile accidents, firearm projectiles, falls from stairs, and ischemic strokes. All evolved with HC. There was no uniform time interval between DC and CP. The cerebrospinal fluid (CSF) was drained according to the need for correction of cerebral herniation in each patient, before undergoing cranioplasty. All patients progressed well, without neurological deficits in the immediate postoperative period. Conclusion There are still several uncertainties about the management of HC resulting from DC. In this context, other CP strategies simultaneous to the drainage of CSF, not necessarily related to ventriculoperitoneal shunt (VPS), should be considered and evaluated more deeply, in view of the verification of efficacy in procedures of this scope, such as the EVD addressed in this study.

Hepatic Liquoric Cyst as a Complication of Ventriculoperitoneal Shunt Insertion: A Case Report

Background The ventriculoperitoneal shunt (VPS) procedure is still themost used technique for management of hydrocephalus. This article reports a case of hepatic cerebrospinal fluid (CSF) pseudocyst as a rare, but important, complication of the VPS insertion. Case Description An 18-year-old male presented to the hospital complaining of temporal headache and visual turbidity for approximately 3 months with a history of VPS insertion for treatment of hydrocephalus and revision of the valve in adolescence. The diagnosis was based on abdominal imaging, demonstrating an extra-axial hepatic CSF pseudocyst free from infection. Following the diagnosis, the management of the case consisted in the removal and repositioning of the catheter on the opposite site of the peritoneum. Conclusion The hepatic CSF pseudocyst is an infrequent complication of VPS procedure, but it needs to be considered when performing the first evaluation of the patient. Several techniques are considered efficient for the management of this condition, the choice must be made based on the variables of each individual case.

Quiste epidermoide intraventricular. Presentación de un caso / Intraventricular epidermoid cyst. A case report

RESUMEN Fundamento: El tumor epidermoide es una lesión benigna que representa cerca del 1 % de las neoplasias intracraneales, su origen es embrionario y son frecuentes en la línea media. Objetivo: Presentar un caso poco frecuente de un quiste epidermoide dentro del cuarto ventrículo, que debutó con hidrocefalia en un paciente de la quinta década de la vida. Presentación clínica: Paciente blanco, masculino, de 49 años que debutó con cefalea, vértigos e inestabilidad para la marcha. Al examen físico neurológico se encontraba consciente, con manifestaciones de un síndrome cerebeloso vermiano. Los estudios de tomografía axial computarizada y de resonancia magnética nuclear simple y contrastada demostraron una lesión homogénea, redondeada con poca captación de contraste, dentro del cuarto ventrículo acompañada de una hidrocefalia triventricular. La estrategia quirúrgica se orientó primero a colocar una derivación ventrículo peritoneal y en un segundo momento se realizó el tratamiento quirúrgico directo a la lesión a través de una craniectomía medial de fosa posterior. Después de la durotomía se observó la lesión nacarada, de aproximadamente 2 cm de diámetro, encapsulada que permitió su resección completa y el restablecimiento de la circulación del líquido cefalorraquídeo. El paciente evolucionó favorablemente con recuperación total de sus manifestaciones clínicas y sin secuelas. Conclusiones: Los quistes epidermoides, aunque predominan en la línea media son muy raros dentro del sistema ventricular. La resonancia magnética es el estudio de elección, el diagnóstico positivo es histopatológico y la resección quirúrgica completa permitieron la curación del enfermo.

ABSTRACT Background: Epidermoid cyst is a benign lesion that represents about 1 % of intracranial neoplasms, of embryonal origin and frequent in the media line. Objective: To present a rare case of an epidermoid cyst within the fourth ventricle in a patient who had hydrocephalus in the fifth decade of life. Clinical report: 49 years old, white male patient, who presented headache, dizziness and gait instability. He was conscious when neurologic physical examination, with appearances of a cerebellar vermis syndrome. Computed axial tomography also simple and contrasted nuclear magnetic resonance imaging studies showed a homogeneous, rounded lesion with low contrast acquisition, within the fourth ventricle, accompanied by triventricular hydrocephalus. The surgical strategy was first oriented to place a ventricle-peritoneal shunt, then direct surgical treatment of the lesion through a posterior fossa medial craniotomy. After dural surgery, a pearly lesion was observed, approximately 2 cm diameter, encapsulated, which allowed its complete resection and the reestablishment of cerebrospinal fluid circulation. The patient evolved positively with total recovery of his clinical manifestations and without any sequela. Conclusions: Epidermoid cysts, although predominant in the media line are very rare within the ventricular system. Magnetic resonance imaging is the choice study, the positive histopathological diagnosis and complete surgical resection allowed the patient to be cured.

Intervenciones de prevención y tratamiento en recién nacidos con defectos del tubo neural / Prevention and treatment interventions in newborns with neural tube defects

Introducción: los defectos de tubo neural son anomalías congénitas del sistema nervioso central; estas malformaciones elevan el grado de morbimortalidad en los recién nacidos durante los diez primeros años de vida. Objetivo: definir las intervenciones que el profesional de enfermería puede realizar en el recién nacido con defectos del tubo neural tomando en cuenta aspectos de prevención y tratamiento. Material y métodos: se realizó una búsqueda sistematizada en las bases de datos de PudMed y BVS de julio-septiembre 2021, que incluyo artículos completos relacionados con intervenciones de enfermería a recién nacidos con defectos del tubo neural publicados entre 2016-2021 y artículos médicos de revisión literaria. Resultados: se seleccionaron 41 artículos para definir las intervenciones, a saber: a. intervenciones preventivas con el consumo de ácido fólico, control prenatal y educación sanitaria, b. intervenciones relacionadas al tratamiento enfocadas al cuidado de las derivaciones ventriculoperitoneales y cuidado de heridas quirúrgicas, c. intervenciones ante complicaciones. Discusión: las tasas de mortalidad y discapacidad infantil han incrementado en los últimos años a pesar de los avances en la medicina preventiva, por lo que toma relevancia el consumo de ácido fólico, educación sanitaria y métodos de cuidado hospitalarios. Conclusiones: la enfermera neonatal puede participar con cuidados estandarizados en beneficio de los recién nacidos considerando intervenciones para evitar retraso en el crecimiento y desarrollo de los hitos motores y cognitivos, reducir complicaciones y mejorar las posibilidades de una óptima condición de vida.

Introduction: neural tube defects are congenital anomalies of the central nervous system; These malformations increase the degree of morbidity and mortality in newborns during the first ten years of life. Objective: define the interventions that the nursing professional can be carried out in newborns with neural tube defects, considering aspects of prevention and treatment. Material and methods: systematized search was carried out in the databases of PudMed and BVS during July-September 2021, which included complete articles related to nursing interventions for newborns with neural tube defects published between 2016-2021 and medical literature review articles. Results: forty-one articles were selected to define the interventions: a. Preventive interventions in the consumption of folic acid, prenatal control and health education, b. Interventions related to treatment focused on the care of ventriculoperitoneal shunt and surgical wound care, c. interventions for complications. Discussion: infant mortality and disability rates have increased in recent years despite advances in preventive medicine, which is why the consumption of folic acid, health education and hospital care methods are relevant. Conclusions: neonatal nurse can participate with standardized care for the benefit of newborns, considering interventions to avoid delayed growth and development of motor and cognitive milestones, reduce complications and improve the chances of an optimal life condition.

Complicaciones de la derivación ventriculoperitoneal en pacientes pediátricos. Revisión del tema / Pediatric complications of ventriculoperitoneal shunt. Topic review

RESUMEN Fundamento: La hidrocefalia es un desorden pediátrico frecuente y la colocación de una derivación ventriculoperitoneal es la técnica quirúrgica más usada para su tratamiento. La incidencia de las complicaciones en pacientes pediátricos es un problema frecuente que aumenta la morbilidad y mortalidad. Objetivo: Sistematizar y actualizar los conocimientos relacionados con las complicaciones ventriculoperitoneal es en edad pediátrica. Desarrollo: Las complicaciones asociadas a la derivación ventriculoperitoneal son frecuentes y se pueden dividir en tres grupos: mecánicas, infecciosas y funcionales relacionadas con el drenaje anómalo del líquido cefalorraquídeo, bien por defecto o por exceso. Dentro de las mecánicas, la obstrucción tiene la mayor incidencia seguida de las desconexiones y roturas por adherencias y por las calcificaciones que se forman en el trayecto subcutáneo a lo largo del tiempo. Las obstrucciones tardías predominan en el extremo distal y son motivo frecuente de reintervenciones. Las infecciones del sistema resultan las complicaciones más graves y complejas de tratar acompañándose de una alta mortalidad. Se pueden presentar de forma aguda, subaguda y de manera tardía. Se han identificado diferentes factores que pueden aumentar la incidencia de complicaciones, algunos relacionados con el tipo de válvula y la causa de la hidrocefalia. Conclusiones: Las derivaciones del líquido cefalorraquídeo han sido durante mucho tiempo el tratamiento clásico de la hidrocefalia pediátrica, al poder resolver casi todas sus formas independientemente de la causa. La clave del éxito para evitar las complicaciones está en una adecuada valoración preoperatoria y una rigurosa técnica quirúrgica y garantizar las medidas para la prevención de las infecciones.

ABSTRACT Background: Hydrocephalus is a common pediatric disorder and ventriculoperitoneal shunting is the most commonly surgical technique used for its treatment. The prevalence of pediatric complications is a frequent problem that increases morbidity and mortality. Objective: To systematize and update knowledge on pediatric ventriculoperitoneal complications. Development: Complications associated to ventriculoperitoneal shunting are frequent and can be divided into three groups: mechanical, infectious and functional related to inconsistent drainage of cerebrospinal fluid, either by defect or excess. Within mechanical complications, obstruction has the highest incidence followed by disconnections and ruptures due to adhesions and calcifications formed in the subcutaneous tract over time. Late obstructions predominate in the distal end being a frequent cause of reinterventions. Infections of the system are the most serious and complex complications to treat and are accompanied by high mortality. They can be acute, subacute and late. Unlike identified factors may increase the incidence of complications, some related to the type of valve and the cause of hydrocephalus. Conclusions: Cerebrospinal fluid shunts have been long the classic treatment for pediatric hydrocephalus, able to solve almost all of its different forms regardless of the cause. The key to success in avoiding complications lies in an adequate preoperative assessment and a rigorous surgical technique also endorsing infection prevention measures.

Complicaciones en la hemorragia intraventricular del recién nacido, a propósito de un caso / Complications in the intraventricular hemorrhage of the newborn, a propos of a case

RESUMEN La hemorragia interventricular es una complicación frecuente en el recién nacido prematuro. Se presentó el caso con el objetivo de describir las complicaciones en la hemorragia intraventricular en el recién nacido. Se trató de una recién nacida, producto de un embarazo de 30 semanas de gestación, con peso al nacer de 1 600 g. Desarrolló una hemorragia intraventricular e hidrocefalia que requirió diferentes intervenciones neuroquirúrgicas y desarrolló complicaciones sépticas graves. La ventriculitis y los abscesos cerebrales fueron las complicaciones más peligrosas. Se realizaron lavados ventriculares. Se utilizó antibióticos intraventriculares y también antibioticoterapia sistémica, cambios frecuentes de catéter de derivación al exterior y permanencia de una derivación ventricular externa por 102 días. Después de seis meses de evolución, de más de veinte intervenciones quirúrgicas, y de haber sufrido severas complicaciones sépticas, se logró realizar la derivación ventrículo-peritoneal definitiva, lográndose su egreso. Al año de vida, la paciente mantiene un desarrollo psicomotor adecuado (AU).

ABSTRACT The interventricular hemorrhage is a frequent complication in the premature newborn baby. The case was presente with the aim of describing the complications of intraventricular hemorrhage in the newborn baby. It dealed with a female newborn baby, product of a 30 weeks pregnancy, with weight at birth of 1 600 g. She developed intraventricular hemorrhage and hydrocephalus that required different neurosurgical interventions and developed serious septic complications. Ventriculitis and brain abscesses were the most dangerous complications. Ventricular lavages were performed. Intraventricular antibiotics were used as well as systemic antibiotic therapy, frequent changes of bypass catheter to the exterior and permanence of an external ventricular bypass for 102 days. And permanence of an external ventricular shunt for 102 days. After six months of evolution, more than twenty surgical interventions, and having suffered severe septic complications, it was possible to perform the definitive ventricular-peritoneal bypass, achieving her discharge. At a year of life, the patient maintains adequate psychomotor development (AU).

Adherencias intraventriculares e inflamación del epéndimo causada por Tuberculosis visualizada vía neuro endoscópica: Reporte de caso / Intraventricular adhesions and inflammation of the ependyma caused by Tuberculosis visualized neuroendoscopically: Case report

Introducción: La Organización Mundial de la Salud (OMS) refiere que la Tuberculosis es la segunda causa de muerte infecciosa más común en adultos a nivel mundial. La "Estrategia Fin a la Tuberculosis" de la OMS consiste en reducir la mortalidad de la Tuberculosis en un 90% y su incidencia en un 80% de aquí al 2030.Objetivos: Reportar los hallazgos intraventriculares mediante neuro endoscopía en un paciente con Tuberculosis en el Sistema Nervioso Central. Descripción del caso: Paciente diagnosticado de Tuberculosis en el Sistema Nervioso Central. Cursó con Hipertensión endocraneana e hidrocefalia, motivo por el cual fue sometido a múltiples cirugías (incluyendo craniectomía descompresiva y Drenaje ventricular externo). Presentó hidrocefalia asimétrica, luego se planteó una neuro endoscopia para fenestrar el septum pellucidum. Intervención: Mediante endoscopía ventricular se evidenciaron adherencias intraventriculares difusas producto de la infección además de obstrucción parcial del Foramen de Monro. Conclusión: En la Tuberculosis en el Sistema Nervioso Central se puede evidenciar adherencias intraventriculares

Introduction: The World Health Organization (WHO) reports that Tuberculosis is the second most common cause of infectious death in adults worldwide. The WHO "End TB Strategy" is to reduce TB mortality by 90% and its incidence by 80% by 2030. Objectives: To report the intraventricular findings by neuro endoscopy in a patient with Tuberculosis in the Central Nervous System. Case description: Patient diagnosed with Central Nervous System Tuberculosis. He cursed with endocranial hypertension and hydrocephalus, which is why he underwent multiple surgeries (including decompressive craniectomy and external ventricular drainage). He presented asymmetric hydrocephalus, then a neuro endoscopy was considered to fenestrate the septum pellucidum.Intervention: Ventricular endoscopy revealed diffuse intraventricular adhesions as a result of the infection as well as partial obstruction of the Foramen of Monro. Conclusion: In Tuberculosis in the Central Nervous System, intraventricular adhesions can be evidenced

Infecciones del sistema nervioso central asociadas a dispositivos de derivación de LCR en niños, en un centro neuro-quirúrgico de referencia nacional / Central nervous system infections associated with CSF shunt devices in children, at a national reference hospital

INTRODUCCIÓN: Las infecciones asociadas a dispositivos de derivación de LCR son una complicación frecuente en su utilización. Lo más habitual es la presencia de cocáceas grampositivas, como Staphylococcus coagulasa negativa (50% en algunas series) y Staphylococcus aureus. Esta complicación agrega morbimortalidad al paciente neuroquirúrgico, aumentando la estadía hospitalaria y los costos de tratamiento. OBJETIVO: Conocer la incidencia de infecciones asociadas a dispositivos de derivación de LCR en un centro de referencia nacional. METODOLOGÍA: Estudio descriptivo, retrospectivo. Se recolectó la información de los pacientes pediátricos (bajo 18 años) entre 2018 y 2019. Se realizó un análisis estadístico descriptivo e inferencial utilizando el lenguaje estadístico R 3.4.0 y RStudio 1.3.9. Se calculó la incidencia acumulada para cada procedimiento, evaluando si existe diferencias significativas entre ellas. Estudio aprobado por el Comité de Ética Pediátrico del SSMO. RESULTADOS: En el período estudiado se realizaron 175 cirugías. Encontramos 19 casos de ventriculitis asociada a derivativa ventriculo-peritoneal y 7 casos en derivativa ventricular-externa. Los agentes más frecuentes fueron las cocáceas grampositivas. No se logró identificar factores de riesgo significativos.

BACKGROUND: Infections associated with CSF shunt devices are a frequent complication in their use. The most common is the presence of gram positive coccaceae, such as coagulase negative Staphylococcus (50% in some series) and Staphylococcus aureus. This complication adds morbidity and mortality to the neurosurgical patient, increasing hospital stay and treatment costs. AIM: To determine the incidence of infections associated with CSF shunt devices in a national referral center. METHODS: Retrospective, descriptive study. Information was collected on pediatric patients between 2018 and 2019. A descriptive and inferential statistical analysis was performed using the statistical language R 3.4.0 and RStudio 1.3.9. The cumulative incidence for each procedure was calculated, evaluating whether there were significant differences between them. This study was approved by the Pediatric Ethics Committee of the SSMO. RESULTS: In the period studied, 175 surgeries were performed. We found 19 cases of ventriculitis associated with ventriculoperitoneal derivative and 7 cases in ventricular-external derivative. The most frequent agents were grampositive coccaceae. It was not possible to identify significant risk factors.