Intracerebral hemorrhage (ICH) is associated with high morbidity and mortality. Intraventricular extension (IVE) and hydrocephalus (HCP) frequently prompt external ventricular drain (EVD) insertion, but objective criteria to guide EVD use are lacking. This article aims to identify clinical and radiological predictors of EVD insertion in spontaneous ICH and to develop a simple bedside scoring system (EVD-ICH score) to support decision-making. This is a prospective observational study of 100 consecutive adults with spontaneous nontraumatic ICH admitted to a tertiary-care center (March 2023 to February 2024). Clinical and CT variables were recorded. Multivariable logistic regression identified independent predictors of EVD insertion. A points-based score was created from adjusted odds ratios and internally validated using receiver operating characteristic (ROC) analysis. Of 100 patients, predictors independently associated with EVD insertion were IVE, HCP, Glasgow coma scale (GCS) ≤ 8, hematoma volume ≥30 mL, and history of hypertension (HTN). The 7-point EVD-ICH score (IVE 2 pts, HCP 2 pts, GCS ≤8 1 pt, ICH ≥30 mL 1 pt, HTN 1 pt) achieved an area under the ROC curve (AUC) of 0.85 (95% CI: 0.78-0.92). Optimal cut-off ≥3 yielded a sensitivity of 80% and a specificity of 77%. Predicted EVD probability ranged from 8% (score 0) to 92% (score 7). The EVD-ICH score provides a concise bedside tool to stratify risk of requiring EVD in spontaneous ICH. External multicenter validation and assessment of impact on patient-centered outcomes are recommended before routine adoption.

Pediatric hydrocephalus continues to pose a significant neurosurgical challenge in Nigeria driven by delayed diagnosis, barriers to treatment, and loss to long-term follow-up. Systemic, infrastructural, and socioeconomic limitations in hydrocephalus care persist across sub-Saharan Africa (SSA) despite major advances globally. This scoping review maps the current landscape of pediatric hydrocephalus in Nigeria, with emphasis on management trends, treatment outcomes, and context-specific challenges. We searched PubMed, Scopus, Web of Science, African Journals Online (AJOL), Nigerian Journal Online (NJOL), as well as grey literature, for studies published within the past 15 years. Eligible studies reported causes, management approaches, treatment outcomes, or barriers to care. Data were synthesized thematically in narrative form. Ten hospital-based studies (n = 1,127) conducted at tertiary institutions and spanning multiple geopolitical zones in Nigeria were included. All were cohort studies (eight retrospective and two prospective) and reported a male predominance. Congenital hydrocephalus, most commonly attributed to aqueductal stenosis and Chiari II malformations, was more common in infants and young children (40-90% across studies), while post-infectious causes were more common in older children. Ventriculoperitoneal (VP) shunting was the predominant treatment modality, while endoscopic third ventriculostomy (ETV) was used in a few centers. Shunt infections were the most common complication, with rates ranging from 11% to 28%. Late presentation was reported with presentation ages ranging between 1 and 12 months of age. High out-of-pocket expenses, limited access to advanced imaging, lack of trained neurosurgeons, and sociocultural barriers to timely care were among the challenges encountered. Pediatric hydrocephalus in Nigeria is characterized by delayed presentation, limited treatment options, and geographical disparities in care. Although ETV is gaining popularity as a treatment modality, VP shunting remains the standard of care. To improve outcomes, neurosurgical services should be decentralized, community-level awareness enhanced, insurance coverage expanded, and national guidelines for hydrocephalus management established.

The cerebral aqueduct (CA), or aqueduct of Sylvius, is the narrowest portion of the ventricular system, connecting the third and fourth ventricles and providing an essential conduit for cerebrospinal fluid (CSF) circulation. Despite its small caliber, the CA transmits over 500 ml of CSF daily, and its vulnerability to obstruction makes it central to the pathophysiology of hydrocephalus. This review synthesizes current knowledge of the CA across developmental, anatomical, and clinical dimensions. We examine its embryological formation and the contribution of structures such as the subcommissural organ and Reissner's fiber, highlighting comparative features across species, and evaluate the dynamic physiology of CSF flow in relation to age and disease states. Advances in imaging modalities, including high-resolution magnetic resonance imaging and fetal ultrasound, are summarized in the contexts of both research and clinical practice. Pathological considerations are addressed, ranging from congenital anomalies (e.g., aqueductal webs, Chiari malformations, cavernomas, and forking) to acquired lesions (e.g., gliosis, neoplasia, and trauma-induced stenosis). The genetic underpinnings of aqueductal stenosis are reviewed, emphasizing L1CAM mutations and broader molecular pathways implicated in congenital hydrocephalus. Surgical strategies, including endoscopic third ventriculostomy, aqueductoplasty, and transaqueductal stenting, are critically appraised in terms of efficacy, complication profiles, and long-term outcomes. Overall, this review underscores the CA as a nexus of neurodevelopment, neuropathology, and neurosurgical innovation, and identifies gaps in knowledge that merit future investigation.

Congenital Hydrocephalus in Central and Southern Tunisia: A 15-Year Retrospective Study of 102 Patients on the Clinical Spectrum, Management, and High Burden of Neural Tube Defects.

The relationship between hydrocephalus and comorbid psychiatric conditions among adults remains unclear. The authors characterized the prevalence of psychiatric conditions among adult patients with hydrocephalus and compared the rates of these conditions among hydrocephalus subtypes. A retrospective study of patients ages ≥18 years from a tertiary hydrocephalus specialty center was conducted by reviewing electronic health record data. Participants (N=2,668) were required to have an ICD-10 diagnosis of hydrocephalus (G91) or congenital hydrocephalus (Q03) in their active problem list. Hierarchical logistic regression analysis was performed to compare psychiatric outcomes among hydrocephalus subtypes after analyses had been adjusted for age at the last visit, gender, and number of hydrocephalus center encounters. Overall, 31% of the study participants had at least one comorbid psychiatric condition, most commonly depression (15%), anxiety disorder (10%), dementia (7%), or a substance use disorder (5%). Female gender was significantly associated with depression and anxiety disorder. Older age was linked to increased odds of dementia and a history of psychiatric encounters, and younger age was associated with anxiety disorders, substance use disorders, intellectual disability, developmental disorders, and childhood-onset behavioral and emotional disorders. Congenital hydrocephalus was associated with higher odds of intellectual disability, and no significant difference in psychiatric outcomes was detected between communicating and obstructive hydrocephalus. Comorbid psychiatric conditions affect a substantial proportion of adult patients with hydrocephalus. Age and gender differences in psychiatric diagnoses resemble trends in the general population. These findings highlight a need to improve psychiatric screening among adult patients with hydrocephalus.

Hydrocephalus results from an imbalance between cerebrospinal fluid (CSF) secretion and absorption. Absence or lack of physiological compensatory mechanisms leads to ventricular dilation and associated clinical symptoms. However, when it is compensated, it is termed as arrested hydrocephalus, which ensures a stable balance between the production and clearance of CSF, that results in normalized intraventricular pressure and minimal ventricular dilatation. Although hydrocephalus can be understood using the traditional bulk flow theory of CSF circulation, arrested hydrocephalus poses unique diagnostic difficulties because of its subtle manifestations and lack of radiographic changes. In this thorough review, the pathogenesis, clinical manifestation, diagnostic standards, and available treatments for various types chronic hydrocephalus, including normal pressure hydrocephalus (NPH) and congenital hydrocephalus, are discussed with emphasis on arrested hydrocephalus.

Objectives: Congenital hydrocephalus, the most common reason for children's brain surgery, can lead to permanent brain developmental damage if the diagnosis and treatment are not timely. The investigators of this specific research sought to investigate the contribution of the combined use of artificial intelligence (AI) and multimodal analysis in spotting the early predictive markers, setting the right time for neurosurgery, and making prognostic accuracy better in congenital hydrocephalus cases. Methods: A retrospective–prospective multimodal analytical framework was applied, which involved the use of clinical, neuroimaging, and cerebrospinal fluid (CSF) biomarker data from children suffering from congenital hydrocephalus. The MRI and CT images were processed through standardized pipelines, and the automated ventricular segmentation was executed utilizing deep learning architectures, which consisted of 3D U-Net and attention-based CNNs. The clinical and biochemical characteristics were treated first through KNN imputation and then by PCA. Supervised machine learning models (support vector machines, random forests, XGBoost) and deep learning architectures (RNNs and LSTMs) were used to train the models for purposes such as risk stratification, prediction of disease progression, and evaluation of surgical outcomes. Results: The deep learning framework that was proposed exhibited impressive predictive performance, surpassing 95% in test accuracy and showing great precision, recall, and F1-scores. The model's data preprocessing greatly increased its robustness, while XGBoost performed better than traditional classifiers. LSTM models were able to predict disease progression more accurately in the longitudinal studies. The application of Explainable AI techniques brought to light ventricular enlargement, CSF dynamics, and periventricular changes as the most important features for prediction. Conclusion: The use of AI-based multimodal analysis leads to precise early risk classification and helps in making decisions about operations in children suffering from congenital hydrocephalus. Combining imaging, biomarkers, and longitudinal data creates a new and efficient way of treating pediatric neurosurgery with high precision, especially in places with limited resources.

Hydrocephalus is a common pediatric neurological disorder characterized by abnormal head enlargement, intellectual disability, visual impairment, and death. To compare the short- and long-term efficacy of ventriculoperitoneal shunt (VPS) and endoscopic third ventriculostomy (ETV) in children with different subtypes of congenital hydrocephalus, construct a machine learning (ML)-based predictive model for ETV success rate using preoperative imaging parameters, and explore the impact of postoperative management strategies on long-term prognosis, thereby establishing an individualized treatment pathway. This multicenter retrospective study involves pediatric patients, < 18years old with congenital hydrocephalus who underwent VPS or ETV in a 1:1 group matching ratio. The study was divided into three modules and clinical data included imaging parameters such as Evans index, basal cistern patency, cerebrospinal fluid dynamics, surgical details, and follow-up outcomes were collected. A total of 800 pediatric patients with congenital hydrocephalus who underwent VPS or ETV were retrieved from patients' records. The surgical success rate of ETV was significantly higher in children > 3years old with obstructive hydrocephalus without Chiari malformation (p < 0.001), while VPS showed better outcomes in infants < 1year old and patients with communicating hydrocephalus (p < 0.05). The 2-year reintervention rate of VPS was mainly affected by shunt obstruction and infection, whereas ETV failure was closely related to basal cistern hypoplasia (p < 0.01). Cognitive improvement rate was higher in the ETV group among patients with normal cerebrospinal fluid dynamics (p < 0.05). The efficacy of VPS and ETV in congenital hydrocephalus varies significantly across different patient subgroups. Our findings provide a scientific basis for precision neurosurgical treatment of congenital hydrocephalus.

We report a rare case of a recurrent cerebrospinal fluid (CSF) pseudocyst causing small bowel obstruction in an adult with a long-standing ventriculoperitoneal (VP) shunt for congenital hydrocephalus. Cerebrospinal fluid pseudocysts are uncommon complications of VP shunts and are most frequently described in pediatric populations. Adult cases leading to mechanical small bowel obstruction are exceedingly rare. This case highlights the importance of considering CSF pseudocysts in the differential diagnosis of VP shunt patients presenting with abdominal pain or obstructive symptoms, emphasizing the need for prompt imaging and multidisciplinary management to prevent complications.

Hydrocephalus in infants is a substantial public health burden in East Africa. In sub-Saharan Africa, hydrocephalus is estimated to affect more than 100,000 new infants annually. Endoscopic third ventriculostomy (ETV) is considered a safe procedure and is a method of choice for the treatment of obstructive hydrocephalus. ETV outcomes in children older than 2 years are abundant; however, minimal outcomes data for infants and neonates younger than 2 months are available in the literature. The authors therefore sought to evaluate the patterns of presentation, endoscopic anatomy, and clinical outcomes in a cohort of infants younger than 6 months who underwent ETV at a major East African center. A retrospective cohort study was conducted using prospectively collected data from all patients with hydrocephalus who were younger than 6 months and underwent ETV or ETV with choroid plexus cauterization (CPC) at Muhimbili Orthopaedic Institute from June 2012 to December 2020. Demographic and clinical data were collected and included age, presentation, etiology, endoscopic anatomy, type of treatment, and clinical outcome. The primary outcomes were 1) ETV success and 2) ETV failure. Predictors of each outcome were assessed through univariate/multivariate logistic regression. Of the 325 infants treated for hydrocephalus, 62% were male, with a median age of 86 days; 69% of the infants presented with congenital hydrocephalus, 37% underwent ETV, and 48% underwent ETV/CPC. The ETV success rate at 4 weeks postoperatively was statistically significantly lower among infants aged 2 months or older compared with those younger than 2 months (0.88 vs 0.95, p = 0.022). No difference was seen 26 weeks postoperatively (0.63 vs 0.73, p = 0.116). At the 52nd week, the failure rates were 0.60 for infants aged 2 months or older versus 0.62 for those younger than 2 months, with no significant difference (p = 0.770). Despite prior findings that younger age has poor reliability in ETV, the use of ETV and combined ETV/CPC have shown better clinical outcomes than that with ventriculoperitoneal shunting in treating hydrocephalus in this study among African neonates.

A bstract Ventriculoperitoneal shunt surgery is the primary treatment for hydrocephalus; however, while common complications include infection and dysfunction, shunt-related acute abdomen syndrome due to catheter knotting is exceedingly rare, with fewer than 30 cases reported in the literature. We present a 9-year-old male with congenital hydrocephalus and a history of neonatal surgery for esophageal atresia and Nissen fundoplication who, despite having a stable neurological course for 8 years, suffered from multiple hospitalizations due to nonspecific gastrointestinal symptoms. He eventually presented with acute nausea, vomiting, and abdominal distension, where radiography revealed distal shunt knotting and acute ileus. Emergency laparotomy confirmed a small bowel volvulus caused by the knotted catheter, and following externalization, the patient was successfully treated with a ventriculoatrial shunt. Based on our clinical observations and literature review, we identified that knotting occurs at intestinal “corner points” where chronic peristaltic movements force redundant catheter lengths to rotate and eventually self-entangle. To overcome the limitations of 2D imaging and improve diagnostic accuracy, we emphasize the potential of developing three-dimensional computed tomography reconstruction techniques, similar to those used in aneurysm surgery, to better visualize the spatial orientation of the catheter. We conclude that managing distal catheter length and maintaining a high clinical suspicion regarding the “neurologically silent phase” are the cornerstones of preventing such life-threatening complications, particularly in patients with complex abdominal histories.

Congenital hydrocephalus is commonly treated with endoscopic third ventriculostomy (ETV), ETV with choroid plexus cauterization (ETV + CPC), or ventriculoperitoneal shunting (VPS), yet outcomes vary, and treatment failure is frequent.This study examines treatment failure between procedures in patients with congenital hydrocephalus. We conducted a database search from inception to February 2025 for head-to-head studies comparing the primary treatments. A network meta-analysis (NMA) was employed to assess failure rates, and pseudo-individual patient data from published Kaplan-Meier (KM) curves were used to evaluate time to failure. This study was registered with PROSPERO (CRD420251142532). The initial search identified 851 articles, of which eight studies (402 patients; 155 VPS, 175 126 only and 121 ETV + CPC) were included. Aqueductal stenosis was the most frequent etiology in ETV only (68.3%) and ETV + CPC groups (51.0%). Myelomeningocele-related hydrocephalus was most reported in the ETV + CPC group (28.9%). Treatment failure was reported at 35.5% in the VPS group, 31.4% for ETV + CPC and 23.8% for ETV only. ETV + CPC demonstrated a significantly lower risk of failure compared with VPS (RR = 0.43, 95% CI: 0.19-0.99). Surface under the cumulative ranking curve analysis ranked ETV + CPC as the most effective strategy in minimizing treatment failure (Rank 1: 88.9%). In KM analysis, the median failure-free survival was not reached in the ETV + CPC group, but was 57.3months for ETV only and 19.8months for VPS. ETV + CPC ranked best in reducing treatment failure with significant benefits over VPS. Larger studies are required to clarify the comparative efficacy of treatment modalities and to identify surgical and etiological factors predictive of treatment failure.

Up to 87% of individuals with myelomeningocele (MMC) develop shunt-dependent hydrocephalus, and ventriculoperitoneal shunts (VPS) significantly increase lifetime morbidity. This study aimed to identify risk factors, incidence, and timing of VPS placement to improve outcomes and guide family counseling. A retrospective review of 125 patients who underwent postnatal MMC closure at Children's National Hospital between 1998 and 2022 was conducted. Primary outcomes were VPS placement and age at insertion. VPS and shunt-free cohorts were compared using Mann-Whitney U, Welch's t-test, and Fisher's exact test (α = 0.05). Subanalysis examined patients shunted within 2weeks versus 2weeks-2months. Youden's index determined optimal cutoffs for hydrocephalus (HCP) and frontal-occipital horn ratio (FOHR). Sixty-nine percent of MMC patients received VPS. Among shunted patients, 16% received VPS at closure, 61% within 2weeks, and 94% within 2months; no shunts were placed after 1year. Mean follow-up was 10.7years. Higher FOHR (p < 0.0001) and HCP (p = 0.01) at birth predicted VPS placement, though only FOHR predicted earlier insertion (0.55 vs 0.48; p = 0.0003). Optimal predictive thresholds were FOHR > 0.48 and HCP > 50%. In this cohort, 69% of MMC patients developed shunt-dependent hydrocephalus. Elevated FOHR at birth predicted earlier VPS placement, and FOHR > 0.48 and HCP > 50% were predictive of VPS need. These measures may aid in family counseling and early identification of patients requiring shunting.

To the Editor: We read with interest the article by Duru et al1 on imaging findings and efficacy of fetal endoscopic third ventriculostomy (ETV) as prenatal treatment for induced hydrocephalus in the ovine model of congenital hydrocephalus. We congratulate the authors for demonstrating radiological evidence of reduction in the ventricular size and compression of brain after ETV in fetal lambs.1 The authors additionally previously have demonstrated technical feasibility aspects of ETV in the ovine model of hydrocephalus.2 Prenatal ETV is an exciting and rapidly evolving field in the management of congenital hydrocephalus; however, there is limited evidence at present regarding long-term benefits for children with hydrocephalus. Indeed, ETV in human fetal hydrocephalus has also been reported previously.3,4 Peralta et al4 reported a 91% rate of technical feasibility. Peralta et al4 previously have demonstrated that despite 70% of this cohort having decreased or stabilized ventricular size, 80% of this cohort required insertion of ventriculoperitoneal shunt postnatally. As expected, duration of patency of such stoma generated in fetal life is likely to be short, paralleling high failure rate of ETV postnatally in children aged less than 1 month. Although many factors such as the technique and size of stoma may govern duration of patency, such failure rate suggests that fetal ETV at least at present is not a treatment strategy for fetal hydrocephalus, and therefore, indication for performing such procedures despite associated risks to fetus and the mother would hinge on long-term cognitive and developmental outcomes and how reduction in the ventricular size translates to real-life clinical benefit for the children. Furthermore, the impact of the procedure on developing fetal brain tissue and long-term effects are additional aspects that may need to be considered and researched. Overall, fetal ETV, although is an exciting step in prenatal management of hydrocephalus, requires consideration of the impact on long-term cognitive and developmental aspects of children to be justified as established treatment for fetal hydrocephalus.

We thank Afshari1 for their interest in our article on the imaging evidence supporting fetal endoscopic third ventriculostomy (ETV) in an ovine model of congenital hydrocephalus.2,3 We fully agree that the goal of any prenatal neurosurgical intervention must be durable functional benefit for the child, and we welcome the opportunity to discuss our data in greater depth and to clarify the translational implications of our findings. Our experimental study comprised 50 lamb fetuses with hydrocephalus induced by fourth-ventricle obstruction. ETV was successfully completed in 64% of cases; when technically confounding polymer blockage was excluded, procedural success approached 80%.4 The principal causes of failure were limited intraventricular visibility for bioglue excessive migration, hemorrhage from the choroid plexus, and exceedingly narrow foramina of Monro, issues that inform future refinements in access trajectory and endoscope profile. In the cohort that underwent successful ETV, serial high-resolution MRI and postmortem analysis demonstrated a consistent reduction in lateral-ventricle volume and a visible re-expansion of the cortical mantle. Quantitatively, mean ventricular index decreased by >30% compared with untreated controls, while T2-weighted sequences showed improved parenchymal signal uniformity—findings that support true decompression rather than procedural artifact. These results substantiate the biological effect of fetal cerebrospinal fluid diversion on developing brain morphology. We agree with Afshari1 that radiological improvement cannot yet be equated with neurocognitive benefit. Nevertheless, our results provide mechanistic evidence that early ventricular decompression can restore more physiologic cerebral architecture during a critical period of neuronal proliferation and migration. This concept aligns with clinical observations that postnatal intervention, even when performed promptly after birth, often are too late to reverse prenatal cortical thinning.5 By shifting the timing of decompression upstream, fetal ETV could theoretically mitigate secondary white matter injury and optimize substrate for later neurodevelopment, that should be confirm after human translation in phase 2 trials with strict neurodevelopmental testing. First human fetal ETV cases performed in Brazil 20 years ago5 where anecdotical and not followed long term. The recent 10 cases reported by Peralta et al6 were performed using the preclinical data presented by our group in a more flexible regulatory environment and obviously will require long-term neurodevelopmental follow-up. At least, it showed to be safe and minimally invasive that allowed fetuses to deliver term or near-term. Our ongoing studies extend the follow-up of surviving lambs to late gestation and postnatal life. These protocols include diffusion-tensor imaging, myelination mapping, and behavioral testing to evaluate sensorimotor function. We are also comparing fetal ETV with novel prenatal shunting strategies such as ventriculo-subgaleal diversion, which may offer temporizing cerebrospinal fluid control until postnatal maturation allows for more definitive treatment.7 The fact that healing process in neonates and fetuses could obliterate the ostomy is a possibility that could require a redo surgery postnatally but at least can provide a temporary decompression of the fetal brain in a critical time of development that will help to improve the outcomes and that also can be reinforced postnatally. Until now, we left the brain deterioration to progress until birth, and now we have the possibility to arrest that deleterious process during the prenatal life. Regarding ethical considerations, we strongly agree that maternal-fetal safety must remain paramount. All current procedures are confined to preclinical models within accredited facilities and are conducted under institutional animal care oversight. We envision any future clinical translation only within the structure of multidisciplinary well-trained fetal-therapy programs, under prospective regulations, institutional review board approvals with explicit maternal consent, and long-term neurodevelopmental follow-up as the primary outcome. The discussion raised by Afshari1 underscores an important balance: Technical feasibility should not be mistaken for therapeutic readiness, yet feasibility data are indispensable to progress safely toward efficacy studies. Our work addresses this foundational step by confirming that fetal ETV can be executed reliably, achieves radiological decompression, and does not produce parenchymal injury in the immediate postprocedural period. The next phase must evaluate functional outcomes and refine the criteria that would define a candidate population, likely limited to fetuses with isolated, nongenetically related, aqueductal stenosis, and progressive ventriculomegaly. In conclusion, we are grateful for the constructive observations provided by Afshari1 and share their emphasis on long-term neurodevelopmental validation. We remain committed to systematic, collaborative investigation aimed at determining whether early correction of obstructive hydrocephalus can translate into measurable neurodevelopmental benefit. Constructive dialogue such as this will be critical to ensure that innovation proceeds with both scientific rigor and ethical responsibility.

Introduction. Ventriculomegaly causes compression within the cranial vault, which increases intracranial pressure and leads to severe brain damage. Usually progressive. if untreated, may be fatal. Case. 3-month-old male child with increasement of head circumference for 2 months. Fever, cough, cold, vomiting, seizure was not found. MRI show extensive dilatation of ventricular system wide-open foramen of Luschka and Magendie with thinning of cerebral cortex and also global ischemic hypoxia. Discussion. The CBF is regulated by the Monroe-Kellie doctrine which state that space of the cranial cavity is fixed in volume. Congenital hydrocephalus occurs in one in 500-1000 babies born in the United States. Lipid peroxides, formed by oxygen free radical damage to membranes, have been detected in hydrocephalic brains by detection of thiobarbituric acid reactive substances. The mechanism of periventricular axon damage includes calcium mediated activation of proteolytic calpains that damage cytoskeletal proteins, similar to the processes that follow acute traumatic or ischemic injury. The gold standard permanent treatment for hydrocephalus is CSF diversion by placement of a shunt. A shunt has three basic component parts: a ventricular catheter placed in the lateral ventricle, a valve regulating the flow of CSF out of the brain, and a distal catheter that terminates in a cavity. The most common shunt, a ventriculoperitoneal shunt (VPS), has been well accepted since its inaugural use. Surgical treatment is associated with a 50% reduced risk of death overall

Valproate has a well-documented teratogenic risk, whereas lamotrigine and levetiracetam seem relatively safe. However, evidence for other antiseizure medications (ASMs) and specific congenital anomalies remains limited and inconsistent. We aimed to assess the risk of overall and specific congenital anomalies associated with prenatal exposure to individual ASMs. We conducted a retrospective cohort study using the Korean National Health Insurance Service mother-child linkage database from 2013 to 2021. Pregnant women aged 20-45 years with live births were included. Exposure was defined as the prescription of any ASM during the first trimester. The primary outcome was congenital anomalies in offspring identified by diagnostic codes within 1 year of birth. We estimated the odds ratios (ORs) for overall congenital anomalies, organ system anomalies, and specific congenital anomalies associated with prenatal exposure to ASMs compared with those in the unexposed group. Propensity score fine stratification was used to adjust for potential confounders. Among 2,494,958 pregnancies, 5,880 (0.24%) were exposed to ASMs during the first trimester. The mean maternal age at delivery was 32.9 years in the exposed group and 32.4 years in the unexposed group. ASM exposure was associated with an increased risk of overall congenital anomalies (OR 1.26, 95% CI 1.11-1.43). Among monotherapies, valproate had the highest risk (OR 1.46, 95% CI 1.11-1.91), showing a dose-dependent relationship (OR 1.57, 95% CI 1.12-2.19 at ≥500 mg/d). Polytherapy, including valproate, had a higher risk (OR 2.06, 95% CI 1.32-3.20), whereas polytherapy without valproate was not significantly associated with an increased risk (OR 1.26, 95% CI 0.92-1.71). Specific congenital anomalies associated with individual ASMs included congenital hydrocephalus (carbamazepine), atrial septal defects (oxcarbazepine), cleft palate (valproate), hypospadias (levetiracetam), and tetralogy of Fallot and talipes equinovarus (topiramate). This study revealed that prenatal exposure to valproate increased the risk of congenital anomalies. Although other ASMs, even in polytherapy, did not significantly increase the overall risk of congenital anomalies, carbamazepine, levetiracetam, oxcarbazepine, and topiramate were associated with specific types of congenital anomalies. Given the limited number of cases, these findings warrant further investigation in other populations. This study provides Class III evidence that prenatal exposure to valproic acid increases the risk of overall congenital anomalies while other ASMs, including carbamazepine, levetiracetam, oxcarbazepine, and topiramate, do not increase the risk of overall congenital anomalies.

Congenital hydrocephalus (CH), characterized by congenital ventriculomegaly (CV), affects approximately 0.5-1 per 1000 live births and is a common cause of pediatric neurosurgical intervention, yet its genetic architecture remains incompletely defined. We report a child with syndromic CH requiring cerebrospinal fluid diversion who harbored a pathogenic de novo missense variant in TRIO (c.3232C > T; p.(Arg1078Trp)), a gene previously associated with autosomal dominant neurodevelopmental disorders featuring variable head circumference. This case prompted systematic evaluation of TRIO variation in our CV/CH cohort (2,697 patient-parent trios) using exome sequencing. We identified five additional unrelated probands with de novo TRIO variants, including two novel substitutions affecting the same residue within the Ras-GEF1 domain (p.(Glu1299Lys) and p.(Glu1299Gly)), yielding significant gene-level enrichment for protein-damaging de novo variants (adjusted p = 6.12 × 10-5). All affected individuals exhibited CV, frequently accompanied by developmental delay and additional structural brain abnormalities. In silico structural modeling predicted that associated variants destabilize critical TRIO Ras-GEF domains required for Rho GTPase activation. Analysis of single-nucleus transcriptomic data from the developing human neocortex revealed enrichment of TRIO expression in multipotent progenitor populations. A systematic literature review identified six additional individuals with TRIO de novo variants and reported CV or CH, including an unrelated patient with the same p.(Arg1078Trp) substitution. Together, these findings expand the phenotypic spectrum associated with pathogenic TRIO variation to include CV/CH and support TRIO as a clinically relevant gene in the genetic evaluation of syndromic CV/CH patients.

Background: Ventriculoperitoneal (VP) shunting is the most common treatment for hydrocephalus in children. However, shunt-related complications and revision rates remain high. Objective: To evaluate the demographic profiles, indications, surgical approaches, complication rates, and revision causes among pediatric patients who underwent VP shunt surgery at Misrata Medical Center between January 2021 and December 2025. Methods: This retrospective study included 144 pediatric patients who underwent VP shunt placement. Data on age, sex, indication for shunting, valve type, surgical approach, complications, and revision causes were collected and analyzed. Results: Among the 144 patients (102 males and 42 females), congenital hydrocephalus was the leading indication for VP shunting (47.9%). A total of 49 patients (34%) required at least one revision surgery. The primary reasons for the first revision were obstruction (49%) and infection (34.7%), respectively. The majority of first revisions (63.3%) occurred within six months of the initial surgery. Infants under one year of age had a higher revision rate. The overall mortality rate was 11.8%, with higher rates observed in patients who required multiple revisions. Conclusion: VP shunt surgery in our pediatric population is associated with a significant risk of complications, primarily obstruction and infection, leading to a high revision rate. Age under one year is a key risk factor for shunt failures. These findings underscore the need for enhanced preventative strategies and close postoperative monitoring to improve patient outcomes

Abstract Congenital melanocytic nevi (CMN) are benign pigmented lesions arising from neural crest-derived melanocytes. While CMN can be associated with neurocutaneous melanosis and other extracutaneous manifestations, the coexistence of CMN with multiple pigmentary birthmarks and acquired cytomegalovirus infection has not been previously reported.