Glioma tectal pediátrico con hidrocefalia y ventriculomegalia. Dos casos clínicos / Pediatric tectal glioma presented with acute hydrocephalus and ventriculomegaly. Two case reports

Los gliomas tectales representan un subtipo de tumores de bajo grado que se desarrollan en la región tectal, en la parte superior del tronco encefálico. Los síntomas incluyen los causados por el aumento de la presión intracraneal por hidrocefalia obstructiva. Son comunes la cefalea, la visión borrosa o doble, las náuseas y los vómitos. El tratamiento de la hidrocefalia es la ventriculostomía endoscópica del tercer ventrículo o la derivación ventrículo-peritoneal. Los gliomas tectales se diagnostican habitualmente en la infancia, pero son frecuentes también en adultos. En general son benignos y de progresión lenta; es suficiente el seguimiento ambulatorio clínico y radiológico. Se presentan dos pacientes pediátricos con tumores de la placa tectal mesencefálica. Un niño de 11 años y una niña de 15 años concurrieron al Departamento de Emergencias con diferentes síntomas. El niño fue tratado con derivación ventrículo-peritoneal por hidrocefalia aguda.

Tectal gliomas represent a subset of low-grade tumors that arise in the tectal region at the roof of the brainstem. Symptoms of tectal glioma include those caused by increased intracranial pressure due to obstructive hydrocephalus. Headache, blurred vision, double vision, nausea and vomiting are common symptoms. In the treatment, ETV (endoscopic third ventriculostomy) or VP-shunt (ventriculoperitoneal) can be applied to treat hydrocephalus. Tectal gliomas are usually diagnosed in childhood and often occur in adults. They are often benign, slowly progressing lesions; outpatient clinical and radiological followup is sufficient. We present two cases of pediatric patients with mesencephalic tectal plate tumors. An 11-year-old boy and a 15-year-old girl applied to the Emergency Department with different complaints. The 11 year-old-boy was treated with VP-shunt due to acute hydrocephalus.

Endoscopic third ventriculostomy in hydrocephalus secondary to vestibular schwannomas / Tercer ventriculostomía endoscópica en la hidrocefalia secundaria a schwanomas vestibulares

Introduction: Treatment options for hydrocephalus related to posterior fossa tumors have been extensively studied in the pediatric population, but the value of endoscopic third ventriculostomy in hydrocephalus secondary to vestibular schwannoma in adults, is controversial. A systematic search of the medical literature was carried out in Pubmed/Medline and SciElo for the identification and inclusion of articles, in addition to the preprint servers bioRxiv and medRxiv. The following descriptors were used: hydrocephalus and vestibular schwannomas or acoustic neuromas or acoustic neurinomas and endoscopic third ventriculostomy. The initial search found 195 articles. After selection, 5 articles were chosen for the study. Objective: To specify the role of the endoscopic third ventriculostomy in hydrocephalus secondary to vestibular schwannomas. Development: The articles included a total of 82 patients, in which an improvement of the symptoms was achieved in 86.6 percent of the cases. The decrease in ventricular diameter was reported in 82.9 percent of the cases and was only found explicit in 3 articles. Although the failure criteria used were varied, 2 of them predominated: the persistence of progressive symptomatic hydrocephalus and/or the need for shunt placement. Endoscopic third ventriculostomy failure only represented 14.6 percent. Conclusions: Third ventriculostomy is an acceptable technique with relative success for the treatment of symptomatic obstructive hydrocephalus secondary to vestibular schwannomas(AU)

Introducción: Las opciones de tratamiento para la hidrocefalia relacionada con tumores de fosa posterior han sido ampliamente estudiadas en la población pediátrica, pero es controvertido el valor de la tercer ventriculostomía endoscópica, en la hidrocefalia secundaria a schwanoma vestibular en adultos, previo a la resección del tumor. Se realizó una búsqueda sistemática de la literatura médica en Pubmed/Medline y SciElo para la identificación e inclusión de artículos, además de los servidores de preprint bioRxiv y medRxiv. Se utilizaron los siguientes descriptores: hydrocephalus y vestibular schwannomas o acoustic neuromas o acoustic neurinomas y endoscopic third ventriculostomy. La búsqueda inicial encontró 195 artículos. Después de la selección, se eligieron 5 artículos para el estudio. Objetivo: Especificar el papel de la tercer ventriculostomía endoscópica en la hidrocefalia secundaria a schwanomas vestibulares. Desarrollo: Los artículos incluyeron un total de 82 pacientes, en los que se logró una mejoría de los síntomas en el 86,6 por ciento de los casos. La disminución del diámetro ventricular se reportó en el 82,9 por ciento de los casos y solo se encontró explícita en 3 artículos. Aunque los criterios de fracaso utilizados fueron variados, predominaron dos de ellos: la persistencia de hidrocefalia sintomática progresiva o la necesidad de colocación de derivación. La falla de la tercer ventriculostomía endoscópica solo representó el 14,6 por ciento. Conclusiones: La tercera ventriculostomía endoscópica es una técnica aceptable y con relativo éxito para el tratamiento de la hidrocefalia obstructiva sintomática secundaria a schwanomas vestibulares(AU)

Factores de riesgo asociados a la persistencia de hidrocefalia posterior a la resección de tumores de fosa posterior / Risk factors associated with hydrocephalus persistence after posterior fossa tumors resection

Introducción: Las neoplasias de fosa posterior son los tumores de sistema nervioso central más frecuentes en la población pediátrica y una causa frecuente de hidrocefalia. Objetivo: Analizar los factores de riesgo asociados a hidrocefalia luego de las cirugías de resección de tumores de fosa posterior en una población pediátrica. Material y Métodos: Se realizó un estudio observacional retrospectivo de pacientes pediátricos operados de tumores de fosa posterior en un único hospital. Se analizaron potenciales factores de riesgo pre y post quirúrgicos. Se consideró como variable respuesta la necesidad de derivación definitiva para tratar la hidrocefalia a los 6 meses de la resección tumoral. Resultados: En el análisis univariado se detectaron múltiples factores de riesgo significativos. Sin embargo, solamente 3 se mantuvieron en el modelo multivariado: grado de resección (Subtotal: OR 7.86; Parcial: OR 20.42), infección postoperatoria (OR 17.31) y ausencia de flujo de salida postoperatorio en IV ventrículo (OR 4.29). Éste modelo presentó una buena capacidad predictiva (AUC: 0.80, Sensibilidad 80.5%, Especificidad 76.3%). Conclusión: La realización de tercer ventriculostomía endoscópica preoperatoria no redujo la incidencia de hidrocefalia postoperatoria. El grado de resección tumoral, la presencia de infección postoperatoria y la obstrucción de salida del IV ventrículo fueron los factores de riesgo más importantes para el requerimiento de sistema derivativo definitivo luego de la resección de un tumor de fosa posterior. Ésto podría influir en la toma de decisiones respecto al tratamiento en este grupo de pacientes pediátricos(AU)

Background: Posterior fossa tumors are the most frequent central nervous system neoplasms in the pediatric population and a frequent cause of hydrocephalus. Objective: Analyze the risk factors associated with hydrocephalus after posterior fossa tumors resection in a pediatric population. Methods: A retrospective observational study was conducted on pediatric patients who underwent posterior fossa tumor resection in a single hospital. Potential pre- and post-operative risk factors were analyzed. The need for definitive shunt placement to treat hydrocephalus at 6 months after tumor resection was considered as the outcome variable. Results: Univariate analysis identified multiple significant risk factors. However, only 3 factors remained in the multivariate model: extent of resection (subtotal: OR 7.86; partial: OR 20.42), postoperative infection (OR 17.31), and absence of postoperative outflow of the fourth ventricle (OR 4.29). This model showed good predictive capacity (AUC: 0.80, Sensitivity 80.5%, Specificity 76.3%). Conclusion: Preoperative endoscopic third ventriculostomy did not reduce the incidence of postoperative hydrocephalus. The extent of tumor resection, presence of postoperative infection, and obstruction of fourth ventricle outflow were the most important risk factors for the requirement of a definitive shunt system after posterior fossa tumor resection. This could influence treatment decisions in this group of pediatric patients

Configuración endoscópica del piso anterior del tercer ventrículo en relación al tiempo de hidrocefalia / Endoscopic Configuration Of The Anterior Floor Of The Third Ventricle In Relation To The Time Of Hydrocephalus

Introducción: Las variantes en la anatomía del piso del tercer ventrículo (PTV) son determinantes en las limitaciones y complicaciones de la tercerventriculostomía endoscópica (TVE). Objetivo: Describir variaciones anatómicas del PTV halladas en casos de hidrocefalia, evaluar incidencia, estratificarlas según tiempo de evolución y correlacionarlas con dificultad quirúrgica. Materiales y Métodos: Análisis retrospectivo de videos intraoperatorios de n=62 casos de hidrocefalia tratados durante el período 2015-2020 en nuestro centro. Incluyéndose n=51 casos donde el PTV se pudo evidenciar claramente en las imágenes. Resultados: Identificamos 10 variedades de PTV de las 14 descriptas en la bibliografía; piso opaco 54,9%, parcialmente borrado 29,4%, intervalo prepontino reducido 23,5%, piso estrecho 17,6%, piso herniado 17,65%. En la hidrocefalia aguda prevalecieron el piso opaco (71,8%) y el piso estrecho (25%). En la crónica predominó el piso delgado (31,5%), el cual se observó exclusivamente en esta categoría. En los pacientes en que se realizó una TVE (43 de 51), el grado de dificultad quirúrgica fue 15 veces mayor en los que presentaban un piso opaco (p 0,00041) y menor en los que presentaban un piso parcialmente borrado (OR de 0,0615; p 0,00092). Conclusión: Las variaciones anatómicas del tercer ventrículo son frecuentes en pacientes hidrocefálicos. Las relacionadas al grosor del piso pueden aumentar el riesgo operatorio. Esta característica no es visualizable en los estudios prequirúrgicos, pero es posible predecirlo conociendo el tiempo de clínica de hidrocefalia y observando la disposición de los cuerpos mamilares en la resonancia(AU)

Background: Variants in the anatomy of the floor of the third ventricle (PTV) are determining factors in the limitations and complications of endoscopic third ventriculostomy (EVT). Objective: Describe anatomical variations of the PTV found in cases of hydrocephalus, evaluate incidence, stratify them according to time of evolution and correlate them with surgical difficulty. Methods: Retrospective analysis of intraoperative videos of n=62 cases of hydrocephalus treated during the period 2015-2020 in our center. Including n=51 cases where the PTV could be clearly evidenced in the images. Results: We identified 10 PTV varieties out of the 14 described in the bibliography; opaque floor 54.9%, partially erased 29.4%, reduced prepontine interval 23.5%, narrow floor 17.6%, herniated floor 17.65%, thin floor 11.76%. In acute hydrocephalus, the opaque floor (71.8%) and the narrow floor (25%) prevailed. In the chronicle, the thin floor predominated (31.5%), which was demonstrated exclusively in this category. In the patients who underwent an EVT (43 of 51), the degree of surgical difficulty was 15 times greater in those who presented an opaque floor (p < 0.00041) and less in those who presented an opaque floor. partially erased (OR of 0.0615; p 0.00092). Conclusion: Anatomical variations of the third ventricle are frequent in hydrocephalic patients. Those related to the thickness of the floor can increase the surgical risk. This characteristic cannot be seen in pre-surgical studies, but it is possible to predict it knowing the time of the hydrocephalus clinic and observing the disposition of the mammillary bodies in the cranial resonance(AU)

Punción ventricular transorbitaria: Revisión de la técnica y reporte de un caso / Transorbital Ventricular Puncture: Review of the technique and report of a case

La punción ventricular transorbitaria (PTO) es una técnica rápida y sencilla aunque poco utilizada en la actualidad. Como puede realizarse en la cama del paciente, resulta ideal en aquellos con hidrocefalia aguda rápidamente evolutiva o con enclavamiento transtentorial inminente o reciente, en quienes el acceso expeditivo a las cavidades ventriculares puede salvarles la vida. Revisamos aquí el desarrollo histórico de la técnica desde su descripción original en 1933. Por último, presentamos el caso de una paciente con hidrocefalia aguda secundaria a edema cerebeloso, en quien el empleo de la PTO dio tiempo para implementar el tratamiento definitivo. La técnica utilizada por nosotros consistió en un ingreso transpalpebral, por detrás del reborde orbitario superior y a nivel mediopupilar, con una trayectoria dirigida hacia la sutura sagital, dos a tres traveses de dedo por detrás de la sutura coronal(AU)

Transorbital ventricular puncture (TOP) is a fast and simple but poorly understood technique. As it can be performed at the patient's bedside, it is ideal in patients with rapidly evolving acute hydrocephalus or with imminent or recent transtentorial herniation, in whom expeditious access to the ventricular cavities can be life-saving. We review the historical development of the technique since its original description in 1933. Finally we present the case of a patient with acute hydrocephalus secondary to cerebellar edema, in whom the use of TOP allowed time to implement definitive treatments. The technique used by us consisted of an entry point through the upper eyelid, behind the superior orbital rim, and at the midpupillary line, with a trajectory aimed towards the sagittal suture two to three finger widths behind the coronal suture(AU)

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.

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.

Analysis of clinical phenotypes and MMACHC gene variants in 65 children with Methylmalonic acidemia and homocysteinemia / 中华医学遗传学杂志

OBJECTIVE@#To carry out Sanger sequencing for MMACHC gene variants among 65 Chinese pedigrees affected with combined methylmalonic aciduria and homocysteinemia, and summarize their genetic and clinical characteristics and prognosis.@*METHODS@#Clinical characteristics of the 65 children identified with Methylmalonic acidemia and homocysteinemia at the Children's Hospital Affiliated to Zhengzhou University (Zhengzhou Children's Hospital) from April 2017 to April 2022 were selected as the study subjects. Potential variants of the MMACHC gene were detected by direct sequencing of the PCR products.@*RESULTS@#The median age of the 65 children was 3 months (14 days to 17 years old). These included 28 cases (43.08%) from neonatal screening, 11 cases (16.92%) with a history of jaundice, and 9 cases (13.85%) with various degrees of anemia. The main clinical symptoms included development delay, slow growth, epilepsy, hydrocephalus, lethargy, feeding difficulty, regression or decline in motor ability, recurrent respiratory infections, anemia, jaundice, respiratory and heart failures, hydrocephalus, limb weakness, and hypertension. Blood and urine tandem mass spectrometry screening has revealed increase of methylmalonic acid, propionyl carnitine, propionyl carnitine/acetylcarnitine ratio, and propionyl carnitine/free carnitine ratio to various extents, and blood homocysteine was increased in all patients. The detection rate of genetic variants was 98.46% (128/130), and in total 22 types of MMACHC gene variants were detected. The most common ones have included c.609G>A (W203X) (58/128), c.658-660del (K220del) (19/128), and c.80A>G (Q27A) (16/128). Two novel variants have been identified, namely c.565C>T (p.R189C) and c.624_ 625delTG (p.A208Afs), which were respectively predicted as likely pathogenic (PM2_Supporting+PM3+PP2+PP3) and pathogenic (PVS1+PM2_Supporting+PM3+PP2) based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). Exon 4 had the highest frequency for the detection.@*CONCLUSION@#Identification of MMACHC gene variants has confirmed the diagnosis in the children, among which the c.609G>A variant has the highest frequency. Discovery of the new variants has enriched the mutational spectrum of the MMACHC gene.

Clinical and genetic analysis of a rare fetus with Protein C deficiency due to compound heterozygous variants of PROC gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic etiology for a fetus with hydrocephalus and intraventricular hemorrhage.@*METHODS@#Trio whole exome sequencing was carried out. Candidate variants were verified by Sanger sequencing of the fetus and its parents.@*RESULTS@#The fetus was found to harbor c.818G>A (p.W273X) and c.833T>C (p.L278P) compound heterozygous variants of the PROC gene, which were respectively inherited from its mother and father. Based on the guidelines of the American College of Medical Genetics and Genomics (ACMG), both variants were predicted to be likely pathogenic (PVS1_Strong+PM2_Supporting+PP4; PM2_Supporting+PM3+PP1+PP3+PP4).@*CONCLUSION@#The fetus was diagnosed with Protein C deficiency due to the c.818G>A (p.W273X) and c.833T>C (p.L278P) compound heterozygous variants of the PROC gene. Above finding has enriched the spectrum of PROC gene variants and enabled genetic counseling and prenatal diagnosis for the family.

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.

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.

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.

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.

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.

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

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.