Navigating Uncharted Waters: Comparative Analysis of Clinical Progression and Outcomes in Vestibular Schwannoma Patients with Papilledema and without Hydrocephalus, Versus Those without Papilledema and Hydrocephalus: A Comprehensive Institutional Insight.

BACKGROUND: Papilledema's association with hydrocephalus (HCP)-linked larger vestibular schwannoma (VS) is established but cases lacking concurrent HCP require further investigation. METHODS: This retrospective comparative observational study, conducted from July 2018 to July 2023, examined 120 VS patients undergoing surgery. Patients were categorized into Group 1 (papilledema without HCP) and Group 2 (no papilledema or HCP), with comprehensive data analyzed. RESULTS: In this study, Group 1 (14 patients with papilledema) and Group 2 (106 patients without papilledema or HCP) were compared. Group 1 was younger (mean age 27.21 ± 11.73 years) than Group 2 (mean age 54.66 ± 11.44 years). Both groups had similar symptom durations and tumor detection times. Group 1 had increased vascularity (P = 0.001), elevated cisterna magna protein levels (P = 0.001), and a higher incidence of neurofibromatosis 2 (P = 0.003). They also experienced longer surgeries (P = 0.001) and more blood loss (P = 0.001), leading to extended postoperative complications. Group 2 showed improved postsurgery visual outcomes (P = 0.001), better Glasgow Outcome Scores (P = 0.001), enhanced facial nerve preservation (P = 0.002), and improved hearing on follow-up (P = 0.003). Logistic regression analysis highlighted prolonged surgery duration (P = 0.057) and papilledema (P = 0.0001) as significant factors influencing visual improvement. CONCLUSIONS: Patients with VS require preoperative fundoscopy evaluation due to potential visual loss and papilledema, even without HCP. Early treatment initiation enhances visual and hearing outcomes. Meticulous surgery is vital given the lesion's hypervascular nature and adherence to surrounding structures. Preoperative embolization may aid in preserving neurovascular structures. In developing countries with higher blindness rates, judicious noncontrast computed tomography brain evaluation is crucial for timely detection and treatment initiation of lesions like VS.

Lateral-type posterior fossa ependymomas in pediatric population.

BACKGROUND: Lateral-type posterior fossa ependymomas are a well-defined subtype of tumours both clinically and pathologically, with a poor prognosis. Their incidence is low and surgical management is challenging. The objective of the present work is to review our series of lateral-tye posterior fossa ependymomas and compare our results with those of previous series. METHODS: Among 30 cases of ependymoma operated in our paediatric department in the last ten years, we identified seven cases of lateral-type posterior fossa ependymomas. We then performed a retrospective, descriptive study. RESULTS: Mean age of our patients was 3.75 years. 6 cases presented with hydrocephalus. Mean tumour volume at diagnosis was 61 cc. A complete resection was achieved in six cases and a near-total resection in one patient. 5 patients transiently required a gastrostomy and a tracheostomy. Mean follow-up was 58 months. One case progressed along this period and eventually died. 4 cases of hydrocephalus required a ventriculoperitoneal CSF shunt and two were managed with a third ventriculostomy. At last follow-up 4 patients carried a normal life and two displayed a mild restriction according to Lansky´s scale. CONCLUSIONS: The aim of surgical treatment in lateral-type posterior fossa ependymomas is complete resection. Neurological deficits associated to lower cranial nerve dysfunction are common but transient. Deeper genetic characterization of these tumours may identify risk factors that guide stratification of adjuvant therapies.

Endoscopic transaqueductal stent placement for tumor-related aqueductal compression in pediatric patients: surgical consideration, technique, and results.

PURPOSE: Endoscopic transaqueductal stenting has become a well-accepted treatment option for a selected small subset of aqueductal stenosis-related obstructive hydrocephalus. However, transaqueductal stenting poses unique challenges and risks which requires critical consideration. This report discusses the clinical experiences with transaqueductal stenting for periaqueductal tumor-related aqueductal stenosis focusing on pediatric patients. METHODS: A retrospective analysis of all patients undergoing endoscopic TAS from 01/1993 to 01/2022 in the author's departments was performed. Demographic, clinical, radiological, and intraoperative endoscopic data were evaluated. All patients with AS-related occlusive hydrocephalus that was treated with TAS were analyzed and prospectively followed. Special attention has been given to providing insights into indications, surgical technique, and limitations. RESULTS: Out of 28 endoscopic transaqueductal endoscopis stenting procedures, five procedures were performed on periaqueductal tumor-related obstructive hydrocephalus, two children and three adult patients. CSF pathway was obstructed by tumor located in the aqueduct in 2, by tumor in the thalamus/mesencephalon in 1, by a tumor within the third ventricle in 1, and by a tumor of the lamina tecti in 1. Simultaneously with transaqueductal stenting, 2 endoscopic third ventriculostomies (ETV), 3 tumor biopsies, and 1 tumor resection were performed. Postoperative complications included the following: CSF fistula (1 case), and asymptomatic fornix contusion (1 case). A working aqueductal stent was achieved in all cases based on clinical follow-up evaluation. Postoperatively, all patients showed improvement or resolution of their symptoms. The mean follow-up period was 25.2 months (range, 1-108 months). One patient died due to tumor progression during early follow-up. No stent migration was seen. CONCLUSION: Endoscopic third ventriculostomy remains the gold standard for treatment of CSF circulation obstructions with lesions in the posterior third ventricle and aqueduct. Transaqueductal stenting for periaqueductal tumor-related aqueductal compression is technically feasible. However, because of the potential high risks and subtle advantages compared with ETV transaqueductal stenting, it might be indicated in a small subset of well-selected patients if alternative treatment options are not at hand.

Genetic etiologies and diagnostic methods for congenital ventriculomegaly and hydrocephalus: A scoping review.

BACKGROUND: Congenital hydrocephalus (CH) is a life-threatening neurological condition that results from an imbalance in production, flow, or absorption of cerebrospinal fluid. Predicted outcomes from in utero diagnosis are frequently unclear. Moreover, conventional treatments consisting primarily of antenatal and postnatal surgeries are often unsuccessful, leading to high mortality rates. Causes of CH can range from secondary insults to germline pathogenic variants, complicating diagnostic processes and treatment outcomes. Currently, an updated summary of CH genetic etiologies in conjunction with clinical testing methodologies is lacking. This review addresses this need by generating a centralized survey of known genetic causes and available molecular tests for CH. METHODS: The scoping review protocol was registered with the Open Science Framework and followed the Arksey and O'Malley framework and the Joanna Briggs Institute methodology. The Preferred Reporting Items for Systematic reviews and Meta-Analyses extension for Scoping Reviews (PRISMA-ScR) was utilized to define search guidelines and screening criteria. RESULTS: Our survey revealed a high number of genetic etiologies associated with CH, ranging from single gene variants to multifactorial birth defects, and additionally uncovered diagnostic challenges that are further complicated by changes in testing approaches over the years. Furthermore, we discovered that most of the existing literature consists of case reports, underscoring the need for studies that utilize CH patient research cohorts as well as more mechanistic studies. CONCLUSIONS: The pursuit of such studies will facilitate novel gene discovery while recognizing phenotypic complexity. Addressing these research gaps could ultimately inform evidence-based diagnostic guidelines to improve patient care.

Classification of Chronic Hydrocephalus in Adults: A Systematic Review and Analysis.

BACKGROUND: Chronic hydrocephalus in adults (CHiA) includes all nonacute forms of hydrocephalus occurring in adulthood. It covers a spectrum of disorders. Some of these have relatively agreed on definitions, while others are less well characterized. The existing medical classification systems lack adequate structure and are neither clinically oriented nor easy to use, which severely hampers research and clinical care efforts. METHODS: A systematic literature review and data analysis were performed, focusing on the terms "adult hydrocephalus" and "classification," using the PubMed, Scopus, and Cochrane Library databases. Data on terminology, definitions, patient demographics, symptom duration, and clinical presentations were extracted, analyzed, and compiled. A Delphi process was followed to define CHiA disorders. RESULTS: A total of 33 studies collectively used 48 terms to define various CHiA disorders. Different terms were used to describe similar conditions. CHiA disorders were found to be clustered into 7 distinctive clinical entities based on the clinical characteristics. CONCLUSIONS: An evidence-based new clinical classification for CHiA is suggested. Our review identified gaps in knowledge and areas for further research.

Molecular Diagnostic Yield of Exome Sequencing in Patients With Congenital Hydrocephalus: A Systematic Review and Meta-Analysis.

Importance: Exome sequencing (ES) has been established as the preferred first line of diagnostic testing for certain neurodevelopmental disorders, such as global developmental delay and autism spectrum disorder; however, current recommendations are not specific to or inclusive of congenital hydrocephalus (CH). Objective: To determine the diagnostic yield of ES in CH and whether ES should be considered as a first line diagnostic test for CH. Data Sources: PubMed, Cochrane Library, and Google Scholar were used to identify studies published in English between January 1, 2010, and April 10, 2023. The following search terms were used to identify studies: congenital hydrocephalus, ventriculomegaly, cerebral ventriculomegaly, primary ventriculomegaly, fetal ventriculomegaly, prenatal ventriculomegaly, molecular analysis, genetic cause, genetic etiology, genetic testing, exome sequencing, whole exome sequencing, genome sequencing, microarray, microarray analysis, and copy number variants. Study Selection: Eligible studies included those with at least 10 probands with the defining feature of CH and/or severe cerebral ventriculomegaly that had undergone ES. Studies with fewer than 10 probands, studies of mild or moderate ventriculomegaly, and studies using genetic tests other than ES were excluded. A full-text review of 68 studies was conducted by 2 reviewers. Discrepancies were resolved by consensus. Data Extraction and Synthesis: Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines and Meta-Analysis of Observational Studies in Epidemiology guidelines were used by 2 reviewers to extract data. Data were synthesized using a random-effects model of single proportions. Data analysis occurred in April 2023. Main Outcomes and Measures: The primary outcome was pooled diagnostic yield. Additional diagnostic yields were estimated for specific subgroups on the basis of clinical features, syndromic presentation, and parental consanguinity. For each outcome, a 95% CI and estimate of interstudy heterogeneity (I2 statistic) was reported. Results: From 498 deduplicated and screened records, 9 studies with a total of 538 CH probands were selected for final inclusion. The overall diagnostic yield was 37.9% (95% CI, 20.0%-57.4%; I2 = 90.1). The yield was lower for isolated and/or nonsyndromic cases (21.3%; 95% CI, 12.8%-31.0%; I2 = 55.7). The yield was higher for probands with reported consanguinity (76.3%; 95% CI, 65.1%-86.1%; I2 = 0) than those without (16.2%; 95% CI, 12.2%-20.5%; I2 = 0). Conclusions and Relevance: In this systematic review and meta-analysis of the diagnostic yield of ES in CH, the diagnostic yield was concordant with that of previous recommendations for other neurodevelopmental disorders, suggesting that ES should also be recommended as a routine diagnostic adjunct for patients with CH.

Minimally invasive third ventriculostomy with stereotactic internal shunt placement for the treatment of tumor-associated noncommunicating hydrocephalus.

BACKGROUND: Intracranial tumors can cause obstructive hydrocephalus (OH). Most often, symptomatic treatment is pursued through ventriculoperitoneal shunt (VS) or endoscopic third ventriculostomy (ETV). In this study, we propose stereotactic third ventriculostomy with internal shunt placement (sTVIP) as an alternative treatment option and assess its safety and efficacy. METHODS: In this single-center, retrospective analysis, clinical symptoms, procedure-related complications, and revision-free survival of all patients with OH due to tumor formations treated by sTVIP between January 2010 and December 2021 were evaluated. RESULTS: Clinical records of thirty-eight patients (11 female, 27 male) with a mean age of 40 years (range 5-88) were analyzed. OH was predominantly (in 92% of patients) caused by primary brain tumors (with exception of 3 cases with metastases). Following sTVIP, 74.2% of patients experienced symptomatic improvement. Preoperative headache was a significant predictor of postoperative symptomatic improvement (OR 26.25; 95% CI 4.1-521.1; p = 0.0036). Asymptomatic hemorrhage was detected along the stereotactic trajectory in 2 cases (5.3%). One patient required local revision due to CSF fistula (2.6%); another patient had to undergo secondary surgery to connect the catheter to a valve/abdominal catheter due to CSF malabsorption. However, in the remaining 37 patients, shunt independence was maintained during a median follow-up period of 12 months (IQR 3-32 months). No surgery-related mortality was observed. CONCLUSIONS: sTVIP led to a significant symptom control and was associated with low operative morbidity, along with a high rate of ventriculoperitoneal shunt independency during the follow-up period. Therefore, sTVIP constitutes a highly effective and minimally invasive treatment option for tumor-associated obstructive hydrocephalus, even in cases with a narrow prepontine interval.

Considerations on surgical strategies and associated risk profiles for endoscopic tumor biopsies within the third ventricle and periaqueductal region.

INTRODUCTION: Neuroendoscopic techniques have proven to be a successful and minimally-invasive technique for tumor biopsies within the third ventricle in pediatric patients. However, a comprehensive assessment of associated surgical strategies, techniques, and morbidity is essential to optimize patient outcomes. METHODS: This retrospective study analyzed full endoscopic tumor biopsies in pediatric patients with tumors in the third ventricle and periaqueductal region. Data from 1995 to 2022 were collected from medical records, imaging, and intraoperative video documentation. RESULTS: In this study, 16 shear endoscopic tumor biopsies were performed using the transventricular transforaminal approach. Tumors were located in the anterior or mid part of the third ventricle (50%) or in the periaqueductal and pineal recess region (50%). Preoperative hydrocephalus was seen in 81.25%. Tumor biopsies were harvested successfully in all cases. Simultaneous ETV was performed in 12 (75%) cases and additional septostomy in 3 (18.75%). Significant intraoperative bleeding occurred in 3 cases (18.75%). All bleeding situations could be successfully managed with continuous irrigation. Histopathology revealed astrocytoma as the predominant diagnosis (75%). No new neurologic deficits were observed, except for one case of transient oculomotor nerve paralysis after ETV. Hydrocephalus persisted in 18.6% of all cases with the need of urgent ventriculoperitoneal shunting in two patients. CONCLUSION: In conclusion, neuroendoscopy emerges as an effective technique for tumor biopsies within the third ventricle in pediatric patients, offering the added advantage of simultaneous treatment of obstructive hydrocephalus. However, it is essential to acknowledge the specific intra- and postoperative risks associated with various surgical strategies. The safe management and achievement of favorable clinical results demand extensive experience and expertise.

Analysis of Evolution of Hydrocephalus in Posterior Fossa Tumors and Validation Study of the Modified Canadian Preoperative Prediction Rule for Hydrocephalus in Children and Frankfurt Grading System for Prediction of Cerebrospinal Fluid Diversion in Adults with Posterior Fossa Tumors.

OBJECTIVE: We sought to analyze the evolution of hydrocephalus and enumerate its predictive factors in posterior fossa tumors in children and adults. We also validated the modified Canadian Preoperative Prediction Rule for Hydrocephalus (mCPPRH) and Frankfurt grading systems as tools to predict cerebrospinal fluid (CSF) diversion in children and adults, respectively. METHODS: A retrospective review of patients with posterior fossa tumors operated between 2012 and 2019 was performed. Clinical, radiologic, and operative data were obtained. Validation was performed for both scores via receiver operating characteristic (ROC) curves and evaluation of the area under the curve (AUC). RESULTS: We included 116 children and 343 adults in the study. Of the adults, 141 patients had intraaxial tumors and 172 had extraaxial tumors. The insertion of external ventricular drain (EVD), its duration, papilledema was noted to have significant influence on the need for permanent CSF diversion (P < 0.05) in children. The ROC for mCPPRH score was 0.659 (0.501-0.816), Age- 0.496 (0.334-0.658) and Evans index- 0.788 (0.654-0.922). In adults- Intraaxial tumours Age, Frankfurt score, duration of EVD, Diagnosis, Extent of resection and periventricular capping significant predictors and ROC age AUC 0.300 (0.193-0.407), Evans index 0.939 (0.888-0.990), and Frankfurt score 0.908 (0.853-0.964) (P < 0.05), whereas in extraaxial tumors Frankfurt grading, sex, duration of EVD, presence of perilesional edema and extent of resection (P < 0.05) ROC age AUC 0.439 (0.344-0.534), Evans index 0.941 (0.906-0.977), and Frankfurt score 0.847 (0.782-0.912). CONCLUSIONS: This is the first external validation study for the 2 predictive systems in use. mCPPRH demonstrated poor predictive accuracy, and Frankfurt grading system demonstrated good accuracy. EVD insertion and its duration was significantly predictive of the need for permanent CSF diversion.

Role of endoscopic third ventriculostomy in patients undergoing resection of pulvinar area lesions: Preliminary clinical results.

BACKGROUND: Patients with pulvinar area lesions may develop hydrocephalus at any stage. The role of endoscopic third ventriculostomy (ETV) in this setting remains unclear. METHOD: We retrospectively enrolled 15 patients with a mean age of 43 years who underwent endoscopic resection of pulvinar area lesions using the supracerebellar infratentorial approach (SCITA). We compared the different modalities of hydrocephalus management and their outcomes. RESULTS: Nine of 15 patients (60.0%) had preoperative obstructive hydrocephalus. Five patients underwent ETV before tumor resection, and none developed postoperative hydrocephalus. Four patients underwent one-stage surgery for tumor removal, and one patient with a polymorphous low-grade neuroepithelial tumor of the young required postoperative ETV. Another patient with diffuse astrocytoma and hydrocephalus underwent concurrent lamina terminalis fenestration and endoscopic resection via the SCITA, which resulted in the resolution of hydrocephalus. The preoperative ETV group had no major postoperative complications, while the non-ETV group had three (0/5 vs. 3/4, P = 0.048). The ETV group also had a shorter intensive care unit stay; however, the difference was not significant (1.2 vs. 2.8; P = 0.188). ETV was effective in alleviating symptoms of postoperative hydrocephalus in patients with midbrain-invading tumors. CONCLUSION: Endoscopic surgery via the SCITA can address both tumor and hydrocephalus issues in some cases but has a higher surgical risk and postoperative hydrocephalus rate. Preoperative ETV can prevent these complications and improve postoperative outcomes.

Chiasmal Compression by the Third Ventricle in Obstructive Hydrocephalus: Case Report and Review of the Literature.

The authors review the phenomenon of third ventricular dilation causing chiasmal compression and vision loss, emphasize the need for further study given continued poor outcomes, and, in a patient case, illustrate the value of obtaining magnetic resonance imaging and nerve and macular optical coherence tomography in a patient with an unclear mechanism of vision loss. [J Pediatr Ophthalmol Strabismus. 2023;60(5):e49-e54.].

Evaluation of Miethke M.scio Device Implantation for Intracranial Pressure Monitoring in Patients with Cerebrospinal Fluid Disorders.

BACKGROUND: Patients with complex shunt-related problems and varying diagnoses of cerebrospinal fluid (CSF) disturbance can present with headache and clinical symptoms that may be difficult to relate to underdrainage or overdrainage. Telemetric intracranial pressure (ICP) monitoring may assist in evaluating individual patients and assessing shunt function and adjustment. We report a case series of patients receiving a Miethke M.scio sensor. METHODS: Between June 2016 and August 2021, 14 patients older than 18 years with different diagnoses underwent ventriculoperitoneal shunt surgery and received a Miethke M.scio sensor. RESULTS: Patients had idiopathic intracranial hypertension (n = 3), obstructive hydrocephalus caused by tumors (n = 4), and malformations (n = 5). Headaches (71%) and visual impairment (50%) were the most common symptoms before surgery and 65% of the symptoms were improved after surgery. In total, 25 measurements were made and 11 of these led to changes in the shunt settings. Postoperative measurements were taken in 8 patients and the most common indication of ICP measurement was headache and/or control of the shunt settings. CONCLUSIONS: The Miethke M.scio is a safe and valuable device to use in shunt-treated patients, in particular those expected to need assessment of ICP monitoring postoperatively. Repeated ICP measurements can also assist in personalized adjustment of the shunt setting to optimize CSF flow in this diverse patient group. Future studies should include a standardized protocol with ICP measurements correlated to the symptoms and cause of CSF disturbances to provide better understanding of the dynamics of the ICP in each patient.

Intracranial Pressure Monitoring and Management in Aneurysmal Subarachnoid Hemorrhage.

Aneurysmal subarachnoid hemorrhage is a medical condition that can lead to intracranial hypertension, negatively impacting patients' outcomes. This review article explores the underlying pathophysiology that causes increased intracranial pressure (ICP) during hospitalization. Hydrocephalus, brain swelling, and intracranial hematoma could produce an ICP rise. Although cerebrospinal fluid withdrawal via an external ventricular drain is commonly used, ICP monitoring is not always consistently practiced. Indications for ICP monitoring include neurological deterioration, hydrocephalus, brain swelling, intracranial masses, and the need for cerebrospinal fluid drainage. This review emphasizes the importance of ICP monitoring and presents findings from the Synapse-ICU study, which supports a correlation between ICP monitoring and treatment with better patient outcomes. The review also discusses various therapeutic strategies for managing increased ICP and identifies potential areas for future research.

Diagnostic yield with exome sequencing in prenatal severe bilateral ventriculomegaly: a systematic review and meta-analysis.

OBJECTIVE: This study aimed to determine the incremental diagnostic yield of prenatal exome sequencing after negative chromosomal microarray analysis results in prenatally diagnosed bilateral severe ventriculomegaly or hydrocephalus; another objective was to categorize the associated genes and variants. DATA SOURCES: A systematic search was performed to identify relevant studies published until June 2022 using 4 databases (Cochrane Library, Web of Science, Scopus, and MEDLINE). STUDY ELIGIBILITY CRITERIA: Studies in English reporting on the diagnostic yield of exome sequencing following negative chromosomal microarray analysis results in cases of prenatally diagnosed bilateral severe ventriculomegaly were included. METHODS: Authors of cohort studies were contacted for individual participant data, and 2 studies provided their extended cohort data. The incremental diagnostic yield of exome sequencing was assessed for pathogenic/likely pathogenic findings in cases of: (1) all severe ventriculomegaly; (2) isolated severe ventriculomegaly (as the only cranial anomaly); (3) severe ventriculomegaly with other cranial anomalies; and (4) nonisolated severe ventriculomegaly (with extracranial anomalies). To be able to identify all reported genetic associations, the systematic review portion was not limited to any minimal severe ventriculomegaly case numbers; however, for the synthetic meta-analysis, we included studies with ≥3 severe ventriculomegaly cases. Meta-analysis of proportions was done using a random-effects model. Quality assessment of the included studies was performed using the modified STARD (Standards for Reporting of Diagnostic Accuracy Studies) criteria. RESULTS: A total of 28 studies had 1988 prenatal exome sequencing analyses performed following negative chromosomal microarray analysis results for various prenatal phenotypes; this included 138 cases with prenatal bilateral severe ventriculomegaly. We categorized 59 genetic variants in 47 genes associated with prenatal severe ventriculomegaly along with their full phenotypic description. There were 13 studies reporting on ≥3 severe ventriculomegaly cases, encompassing 117 severe ventriculomegaly cases that were included in the synthetic analysis. Of all the included cases, 45% (95% confidence interval, 30-60) had positive pathogenic/likely pathogenic exome sequencing results. The highest yield was for nonisolated cases (presence of extracranial anomalies; 54%; 95% confidence interval, 38-69), followed by severe ventriculomegaly with other cranial anomalies (38%; 95% confidence interval, 22-57) and isolated severe ventriculomegaly (35%; 95% confidence interval, 18-58). CONCLUSION: There is an apparent incremental diagnostic yield of prenatal exome sequencing following negative chromosomal microarray analysis results in bilateral severe ventriculomegaly. Although the greatest yield was found in cases of nonisolated severe ventriculomegaly, consideration should also be given to performing exome sequencing in cases of isolated severe ventriculomegaly as the only brain anomaly identified on prenatal imaging.

Preterm-related posthemorrhagic hydrocephalus: Review of our institutional series with a long-term follow-up / Hidrocefalia poshemorrágica del prematuro: revisión de nuestra serie a largo plazo

Introduction Preterm-related posthemorrhagic hydrocephalus is a major cause of neurological impairment and a common indication for a ventriculoperitoneal shunt in infants that are prone to diverse complications. Protocols of diagnosis and treatment are in continuous evolution and require evaluation of their results. Objective To review the clinical characteristics and results of a series of preterm-related posthemorrhagic hydrocephalus needing a definitive shunt from 1982 to 2020 in our institution. As a secondary objective we evaluated the safety of the changes in our protocol of treatment from 2015. Methods Retrospective review, clinical investigation. Results 133 patients were implanted a shunt in the study period. Shunt infection was diagnosed in 15 patients. Proximal shunt obstruction as the first complication was diagnosed in 30% of cases at one year, 37% at two years and 46% at five years. 61 patients developed very small or collapsed ventricles at last follow-up. Two thirds of our patients achieved normal neurological development or mild impairment. Changes in protocol did not significantly modify clinical results although improvement in most outcomes was observed. Mean follow-up was over nine years. Conclusions Clinical outcomes are comparable to previous reported data. Changes in protocol proved to be safe and improved our results. Programmable shunts can be used safely in preterm patients although they may not prevent tendency towards ventricular collapse, which is very common after long follow-up (AU)

Antecedentes La hidrocefalia poshemorrágica del prematuro continúa siendo una causa importante de lesión cerebral perinatal y una indicación frecuente de cirugía derivativa valvular en un grupo de pacientes particularmente vulnerable y expuesto a complicaciones. Los protocolos de diagnóstico y tratamiento están en continua evolución y requieren un análisis de los resultados asociados a ellos. Objetivo Revisar las características clínicas y los resultados de tratamiento en una serie de prematuros con hidrocefalia poshemorrágica en los que se implantó una derivación ventriculoperitoneal permanente en nuestro hospital entre 1982 y 2000. Como objetivo secundario evaluamos la seguridad de los cambios introducidos en nuestro protocolo desde 2015. Material y método Estudio clínico retrospectivo, serie de casos. Resultados 133 prematuros requirieron una derivación ventriculoperitoneal permanente en el tiempo de estudio. En 15 de ellos se diagnosticó una infección del sistema de derivación. La obstrucción proximal de la derivación como primera complicación posquirúrgica ocurrió en un 30% de los pacientes al primer año, en el 37% de los pacientes a los dos años y en el 46% de los casos a los 5 años de seguimiento. 61 pacientes desarrollaron un colapso ventricular clínico o radiológico. Dos tercios de los pacientes presentaron un desarrollo psicomotor normal o un retraso de carácter leve. Los cambios incorporados en nuestro protocolo de tratamiento no modificaron la evolución clínica significativamente, aunque se asociaron a una evolución globalmente más favorable. La media de seguimiento fue superior a los 9 años. Conclusiones Los resultados clínicos presentados se encuentran en línea con las series publicadas, Los cambios incorporados en nuestro protocolo actualizado demostraron ser seguros y pueden asociarse a una evolución más favorable (AU)

PAK1 c.1409 T > a (p. Leu470Gln) de novo variant affects the protein kinase domain, leading to epilepsy, macrocephaly, spastic quadriplegia, and hydrocephalus: Case report and review of the literature.

The p-21-activated kinase 1 (PAK1) protein, encoded by the PAK1 gene, is an evolutionarily conserved serine/threonine-protein kinase that regulates key cellular developmental processes. To date, seven de novo PAK1 variants have been reported to cause the Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay (IDDMSSD). In addition to the namesake features, other common characteristics include structural brain anomalies, delayed development, hypotonia, and dysmorphic features. Here, we report a de novo PAK1 NM_002576.5: c.1409 T > A variant (p.Leu470Gln) identified by trio genome sequencing (GS) in a 13-year-old boy with postnatal macrocephaly, obstructive hydrocephalus, medically refractory epilepsy, spastic quadriplegia, white matter hyperintensities, profound developmental disabilities, and a horseshoe kidney. This is the first recurrently affected residue identified in the protein kinase domain. Combined assessment of the eight pathogenic PAK1 missense variants reveal that the variants cluster in either the protein kinase or autoregulatory domains. Although interpretation of the phenotypic spectrum is limited by the sample size, neuroanatomical alterations were found more often in individuals with PAK1 variants in the autoregulatory domain. In contrast, non-neurological comorbidities were found more often in individuals with PAK1 variants in the protein kinase domain. Together, these findings expand the clinical spectrum of PAK1-associated IDDMSSD and reveal potential correlations with the affected protein domains.

Recognizing and managing hydrocephalus in children.

ABSTRACT: Hydrocephalus is one of the most common indications for pediatric neurosurgical intervention and is associated with the need for lifelong monitoring. All clinicians should be familiar with the complications that may arise throughout life in these patients so that they can provide timely intervention. This article focuses on the assessment of hydrocephalus, the appropriate diagnostic workup and differential diagnoses, and evidence-based surgical treatments and associated outcomes.