Cases Of Hydrocephalus Research Articles

Outcomes and complications of vertical parasagittal hemispherotomy in children: a nationwide population-based study.

The goal of this study was to assess the complications associated with vertical parasagittal hemispherotomy (VPH), the impact of incomplete disconnection on long-term seizure freedom, and how VPH impacts cognitive development. A retrospective evaluation was performed in all patients who had undergone VPH during 1991-2022 at the authors' institution. Two-year follow-up data were available for 45 patients, and there were 6-month data for 3 more. All available postoperative MRI studies (31/48, 64.6%) were reviewed. Before 2010, postoperative MRI was only performed if seizures recurred. Primary VPH led to Engel class I in 73% of patients. Acquired etiologies had a higher rate of Engel I compared to developmental and progressive etiologies (96% vs 46% and 44%, p < 0.001). Nearly half of patients (45%) showed improved cognitive trajectories as opposed to their preoperative ones, whereas in 45% trajectories remained unchanged. Additionally, 5 patients (10%) exhibited new major deficits or accelerated cognitive deterioration after VPH. Surgical complications occurred in 14 patients (29%) after the first VPH; 4 cases were classified as transient, resolving during follow-up without surgical intervention. Nontransient complications included 8 cases of hydrocephalus requiring surgical treatment, 1 shunted subdural hygroma, and 1 case of CSF leakage from the wound. Diabetes insipidus occurred in 6 patients, with all resolving spontaneously. Residual connections were present in 16 patients, primarily in the temporomesial region. Seven patients remained seizure free despite visible residual connections. VPH is a highly effective treatment for drug-resistant hemispheric epilepsy, resulting in durable seizure freedom and often favorable cognitive outcomes. Diabetes insipidus in addition to hydrocephalus is a common complication after VPH. Incomplete disconnection does not necessarily preclude seizure freedom.

New-onset hydrocephalus in an adult with cerebral palsy: A case report and review of the literature.

Hydrocephalus is a common comorbidity associated with brain injuries, including cerebral palsy (CP). In CP, hydrocephalus typically presents in infancy or early childhood. This report describes a patient in their mid 20 s with mixed dyskinetic-spastic CP with adult-onset hydrocephalus of unknown cause initially presenting with new-onset bilateral lower extremity spasms. Multiple interventions were trialed, including ischial bursal steroid injections, botulinum toxin injections, trigger point injections, multiple oral medications, and physical and massage therapies without benefit. Given lack of treatment response, imaging of the neuraxis was obtained. Magnetic resonance imaging (MRI) of the brain demonstrated new diffuse moderate ventriculomegaly compared to prior MRI. Ophthalmologic evaluation demonstrated papilledema, and opening pressure on lumbar puncture was elevated to 44 mmHg H2O. The patient underwent ventriculoperitoneal shunt placement with rapid and near-resolution of their spasms and pain. This patient represents a unique case of new-onset hydrocephalus in an adult with CP. To ensure appropriate and timely diagnosis and treatment, individuals with neurologic conditions such as CP should have ongoing surveillance and comprehensive evaluation for any neurologic or functional changes, including changes in baseline tone. Future research is needed to better understand if adults with CP are at higher risk for the development of hydrocephalus in adulthood.

Preliminary observation on clinical outcome and safety of surgery in early infants (

ObjectiveTo investigate the clinical outcomes and safety of surgery in infants (< 12 months of age) with drug-resistant epilepsy, clarify surgical indications, and select appropriate surgical methods. MethodsThis was a retrospective analysis of infants with drug-resistant epilepsy who underwent epilepsy surgery and were followed up for > 6 months at the Epilepsy Center of Shenzhen Children's Hospital. Clinical data included etiology, seizure type, surgical procedure, preoperative auxiliary examinations, pathological findings, and intraoperative and postoperative complications. Clinical outcomes were assessed based on postoperative seizure frequency, antiseizure medicines (ASMs) use, and neurocognitive development. Intraoperative blood loss, operative duration, postoperative complications, and duration of intensive care were evaluated to assess the safety of epilepsy surgery. Univariate and logistic analyses were performed to explore the factors influencing prognosis. ResultsEpilepsy surgery was performed on 44 infants with drug-resistant epilepsy, including 7 patients who underwent two operations. The age of seizure onset ranged from 1 day to 11 months (median: 1 month, interquartile range (IQR): 0.1–3.8), the disease course was 1–11 months (median: 4 months, IQR: 2–7), and the age at surgery was 6.9±3.6 months. Twenty-three patients underwent hemispherectomy (52.3%), and two underwent subtotal hemispherectomy. Five patients underwent multilobar disconnection, five underwent frontal lobotomy, and the remaining nine underwent focal resection. The surgical duration was 7.5±2 hours. Intraoperative blood loss ranged from 50–1800 ml (median: 275 ml, IQR: 200–500), with all patients receiving an intraoperative blood transfusion of 0.5–6 U (median: 1.5 U, IQR: 1.5–3). The intensive care unit stay was 1–4 days (median: 1 day, IQR: 1–2). The postoperative complication rate was 13.6% (6/44; two cases of hydrocephalus with intracranial infection, two isolated hydrocephalus, and two subdural hematomas). Excluding one child who died of severe lung infection approximately one year after surgery and one child lost to follow-up after surgery, all other cases were regularly followed up for 10 –49 months (median: 30 months, IQR: 16.5–36). After surgery, patients were treated with 0–3 ASMs (median: 1 ASM, IQR: 0–2); 27.9% (12/43) stopped taking ASMs and 51.2% (22/43) had reduced number of ASMs. Engel I was achieved in 76.7% (33/43) of the patients at the last follow-up. In 17 cases with complete developmental quotient follow-up data, the preoperative and postoperative developmental quotient means were 28.8±21 and 43.2±20.1, showing statistically significant differences (p<0.05) SignificanceEpilepsy surgery in infants under 12 months of age is safe and effective. Early preoperative evaluation is crucial for identifying structural lesions and suitable candidates for surgery among infants with drug-resistant epilepsy. The timeliness of surgery is essential for achieving favorable clinical outcomes.

Clinical application of single-shot fast spin-echo sequence for cerebrospinal fluid flow MR imaging.

In normal-pressure hydrocephalus, disturbances in cerebrospinal fluid (CSF) circulation occur; therefore, understanding CSF dynamics is crucial. The two-dimensional phase-contrast (2D-PC) method, a common approach for visualizing CSF flow on MRI, often presents challenges owing to prominent vein signals and excessively high contrast, hindering the interpretation of morphological information. Therefore, we devised a new imaging method that utilizes T2-weighted high-signal intensification of the CSF and saturation pulses, without requiring specialized imaging sequences. This sequence utilized a T2-weighted single-shot fast spin-echo combined with multi-phase imaging synchronized with a pulse wave. Optimal imaging conditions (repetition time, presence/absence of fast recovery, and echo time) were determined using self-made contrast and single-plate phantoms to evaluate signal-to-noise ratio, contrast ratio, and spatial resolution. In certain clinical cases of hydrocephalus, confirming CSF flow using 2D-PC was challenging. However, our method enabled the visualization of CSF flow, proving to be useful in understanding the pathophysiology of hydrocephalus.

Endoscopic third ventriculostomy (ETV) for Chiari 1 malformation: a systematic review and meta-analysis.

Meta-analysis and systematic review. To understand the role of endoscopic third ventriculostomy (ETV) for the treatment of concurrent Chiari Malformation Type I (CMI) and hydrocephalus in adults. A literature search on PubMed and Medline with MeSH terms relating to ETV and CMI identified 155 articles between 1988 and 2024. After excluding pediatric cases and other CNS pathologies with associated CMI, 11 articles met inclusion criteria. The Newcastle-Ottawa Scale was identified to assess heterogeneity and risk of bias among the 11 studies analyzed in this systematic-review and meta-analyses compared pre- and post-operative outcomes to examine the use of ETV as a treatment modality for CMI with hydrocephalus. From the 11 included studies, 35 cases of concurrent CMI and hydrocephalus treated with ETV were identified. ETV provided a pooled rate of symptom resolution or improvement of 66%. Additionally, meta-analysis discovered the following pooled rates: a reduction of tonsillar descent in 94% of patients, decreased ventriculomegaly in 94%, and ETV patency in 99%. Syringomyelia, nausea, papilledema and cerebellar dysfunction did not have sufficient numbers for meaningful statistical analyses. However, in each of these categories, more than 85% of the symptoms or radiographic findings improved. This review summarizes the safety and efficacy of ETV for the concurrent management of acquired CMI with hydrocephalus. Specifically, ETV improves radiological outcomes of both ventriculomegaly and tonsillar descent as well as the most prevalent neurological symptom, headaches.

Analysis of Causes of Complications and Prognostic Factors After Titanium Mesh Ultra-Early Cranioplasty Following Decompressive Craniectomy for Craniocerebral Trauma

PurposeTo explore the complications and prognostic factors after titanium mesh ultra-early cranioplasty (CP) after decompressive craniectomy (DC) for craniocerebral trauma. MethodFrom January 2020 to November 2022, 44 patients with craniocerebral trauma who needed ultra-early-CP after DC were collected. The basic data of NIHSS, GCS, mRS and MoCA scores of patients were collected, and the complications and prognosis of patients 3 months after operation were collected. Multivariate Logistic regression was used to analyze the prognostic factors. ResultsCompared with preoperative, the postoperative NIHSS score of patients with ultra-early-CP decreased, the postoperative GCS score increased, the postoperative mRS score decreased (P<0.05), and the postoperative MoCA score was higher. Postoperative complications occurred in 42 patients with ultra-early-CP. There were 37 complications, including 7 cases of hydroaccumulation, 18 cases of hematocele, 11 cases of pneumatosis, 3 cases of scalp swelling, 2 cases of epilepsy, 10 cases of hydrocephalus and 1 case of intracranial infection, and no incision infection occurred. Age and postoperative NIHSS score were related factors affecting the poor prognosis of ultra-early-CP patients (P<0.05). ConclusionUltra-early-CP can promote the recovery of neurological function, reduce the disturbance of consciousness, improve daily living ability and improve cognitive function in patients with craniocerebral trauma, but there is a high risk of postoperative complications. In addition, age and postoperative NIHSS score are related factors affecting the poor prognosis of ultra-early-CP patients.

Huge hydrocephalus: a rare case series with insights into management and outcomes of this neglected cohort.

This study aims to discuss the management challenges of huge hydrocephalus (HH), a severe subset of hydrocephalus, presenting predominantly in underprivileged backgrounds. Insights into the condition's characteristics, factors affecting outcomes, and associated morbidity are discussed. A retrospective review of all operated cases of hydrocephalus with head circumference greater than body length (HC>L) was conducted (January 2019-January 2023). Data on epidemiological parameters, associated cranial abnormalities, cortical mantle thickness, peri-conceptional folic acid intake, surgical interventions, age-appropriate milestones, and complications were collected. Follow-up was conducted for at least 12 months or until expiration. The cohort consisted of 7 males and 5 females with age ranging from 3 to 48 months. 33% of them had associated neurological abnormalities, and 18 surgical interventions were needed for these 12 cases, including ventriculoperitoneal shunt or endoscopic diversion. A 17% wound breakdown rate requiring re-suturing was present, and 33% of cases had postoperative CSF infection, with 33% mortality, with only one case having age-appropriate development seen. The average hospital stay was 11.9 days, six times our center's average. All cases with an Evans index with an average of 0.7 expired within 12 months. None of the 12 mothers took peri-conceptional folic acid, and no case agreed to reduction cranioplasty. Huge hydrocephalus is a rare cohort with significant management challenges and poor prognosis even after treatment. Factors such as delayed intervention and low socioeconomic status contribute to adverse outcomes. Prevention through peri-conceptual folic acid intake and addressing socioeconomic disparities is crucial in reducing disease burden and improving prognosis.

Comparison of cranial imaging findings and diagnostic measurements of congenital and acquired hydrocephalus cases operated: clinical study

Comparison of cranial imaging findings and diagnostic measurements of congenital and acquired hydrocephalus cases operated: clinical study

Case report: Rare case Pandoraea ssp causing bacteremia associated with CRBSI in patients with hydrocephalus post intraventricular hemorrhage drain revision at Prof. Ngoerah Hospital, Denpasar, Bali

Introduction: Pandoraea species is a multidrug-resistant, gram-negative bacillus usually isolated from patients with cystic fibrosis (CF) and also commonly found in water and soil. Bloodstream infection with Pandoraea ssp in non-CF patients is uncommon. We report the first case of post-revision VP shunt hydrocephalus with bacteremia and associated CRBSI caused by Pandoraea ssp. Case description: A 50-year-old Balinese man with underlying disease of sepsis by Pandoraea ssp. after several histories of surgery, a patient with non-communicating hydrocephalus and intraventricular hemorrhage after endoscopic Intra Ventricular Hemorrhage evacuation and revision of the proximal shunt. The patient complained of being unconscious for 2 days, slurred speech, weakness in half of the body, vomiting once, seizures, and a fever. The CVC device was installed for 20 days, and he had a fluctuating fever during the hospitalization. Ceftriaxone and levofloxacin were given intravenously for empiric treatment. Pandoraea ssp. were isolated from both his blood samples and exit site; once the pathogen and drug sensitivity were confirmed, levofloxacin was planned for definitive treatment. One month after the patient was admitted, his condition worsened and he was pronounced dead. Discussion: Pandoraea ssp. had been reported in this patient with multiple organ dysfunction as a complicating factor. In our case, the potential source of this bacteria was considered to be contamination from the environment. This infection is considered CRBSI during hospitalization. This bacteria is multi-drug-resistant, which makes treatment of Pandoraea infections complicated. Conclusion: The finding case will be beneficial to clinicians because it provides additional information about the lesser-known Pandoraea species.

Joubert Syndrome-Related Disorder: Report of Six Cases and Literature Review

Background: The prevalence of Joubert syndrome in most Arab countries is unknown, yet it has an estimated prevalence of 1/5,000 live births in the United Arab Emirates. Geographic areas where consanguinity represent high percentage (40-60%) of marriages, similar prevalence might be expected.Findings: In Case 1 (Figure 2), we found the neuroimaging features of classic JS in the form of MTS and mild vermian hypoplasia. In Case 2, (Figure 3) the imaging features included the appearance of persistent Blake’s pouch cyst. In Case 3 (Figure 4), we found the additional imaging features of Dandy Walker malformation. Case 4 (Figure 5) revealed classic JS features of the posterior fossa but with partial dysgenesis of the corpus callosum. In Case 5 (Figure 6), we found the unidentified JSRD that would help in recognizing the prognosis and clinical outcome. Case 6 (Figure 7) demonstrated the associated small posterior fossa, dysplastic superior vermis, occipital meninigocele, platybasia and compression of the cervicomedullary junction.Conclusion: First, these cases emphasize the importance of raising the clinical suspicion in this diagnosis in newborns presenting with abnormal respiration. Second, it is essential for the radiologist to look for other posterior fossa anomalies in case of finding an entity before jumping to a certain or specific syndrome. Additionally, follow-up cases of hydrocephalus should be thoroughly searched again for congenital malformations.Limitations: Our main limitation is the lack of genetic study of the presented cases due to outsourcing. That could help better classification of the Joubert syndrome in children.

The homozygous pathogenic variant of the POMGNT1 gene identified using whole-exome sequencing in Iranian family with congenital hydrocephalus

BackgroundHydrocephalus is one of the most common pathophysiological disabilities with a high mortality rate, which occurs both congenitally and acquired. It is estimated that genetic components are the etiology for up to 40% of hydrocephalus cases; however, causal mutations identified until now could only explain approximately 20% of congenital hydrocephalus (CH) patients, and most potential hydrocephalus-associated genes have yet to be determined. This study sought to find causal variations in a consanguineous family with four affected children diagnosed with hydrocephalus.Material and methodsIn this study, we evaluated twenty-five members of an extended family consisting of a nuclear family with four affected children resulting from a consanguineous couple and eighteen of their relatives, including one hydrocephalus case. The mother of this family was experiencing her 15th week of pregnancy, and cytogenetic evaluation was performed using amniocentesis to identify fetal chromosomal abnormalities. We conducted whole-exome sequencing (WES) on the genomic DNA of the proband to detect the CH-causing variants, followed by confirmation and segregation analysis of the detected variant in the proband, fetus, and family members through Sanger sequencing.ResultsFollowing the bioinformatic analysis and data filtering, we found a homozygous variant [NM_001243766.2:c.74G>A:p.W25X] within the protein O-mannose beta-1,2-N-acetylglucosaminyltransferase 1 (POMGNT1) gene confirmed by Sanger sequencing in the proband and segregated with the hydrocephalus in the family. The variant was described as pathogenic and regarded as a nonsense-mediated mRNA decay (NMD) due to the premature stop codon, which results in a truncated protein.ConclusionThe results of the current study broadened the mutational gene spectrum of CH and our knowledge of the hydrocephalus etiology by introducing a novel homozygous variant within the POMGNT1 gene, which had never been previously reported solitary in these patients.

An Analysis of Two Aged Patients with Obstructive Hydrocephalus

What causes would you think of in an aged patient with hydrocephalus on his or her brain CT scan？These are two cases of obstructive hydrocephalus，that occurred with gradual mental loss and difficult walking due to the rigidity of both legs. A final diagnosis of obstructive hydrocephalus was established on the basis of their abnormal immunological tests；and drainage tubes were then inserted intracranially to alleviate the increased intracranial pressure（ICP），their total situations improved significantly. The authors realized that an autoimmune mechanism might be involved in a possible ependymitis inside their ventricular systems，and an earlier intervention of autoimmune may retard its natural process.

Optimization of number and range of shunt valve performance levels in infant hydrocephalus: a machine learning analysis.

Shunt surgery is the main treatment modality for hydrocephalus, the leading cause of brain surgery in children. The efficacy of shunt surgery, particularly in infant hydrocephalus, continues to present serious challenges in achieving improved outcomes. The crucial role of correct adjustments of valve performance levels in shunt outcomes has been underscored. However, there are discrepancies in the performance levels of valves from different companies. This study aims to address this concern by optimizing both the number and range of valve performance levels for infant hydrocephalus, aiming for improved shunt surgery outcomes. We conducted a single-center cohort study encompassing infant hydrocephalus cases that underwent initial shunt surgery without subsequent failure or unimproved outcomes. An unsupervised hierarchical machine learning method was utilized for clustering and reporting the valve drainage pressure values for all patients within each identified cluster. The optimal number of clusters corresponds to the number of valve performance levels, with the valve drainage pressure ranges within each cluster indicating the pressure range for each performance level. Comparisons based on the Silhouette coefficient between 3-7 clusters revealed that this coefficient for the 4-cluster (4-performance level) was at least 28.3% higher than that of other cluster formations in terms of intra-cluster similarity. The Davies-Bouldin index for the 4-performance level was at least 37.2% lower than that of other configurations in terms of inter-cluster dissimilarity. Cluster stability, indicated by a Jaccard index of 71% for the 4-performance level valve, validated the robustness, reliability, and repeatability of our findings. Our suggested optimized drainage pressure ranges for each performance level (1.5-5.0, 5.0-9.0, 9.0-15.0, and 15.0-18.0cm H2O) may potentially assist neurosurgeons in improving clinical outcomes for patients with shunted infantile hydrocephalus.

Aneurysmal Versus “Benign” Perimesencephalic Subarachnoid Hemorrhage

Background The rate of underlying ruptured aneurysms, complications, and their relevance to outcomes in “benign” perimesencephalic subarachnoid hemorrhage are not well known and underreported. Methods Retrospective analysis of patients with perimesencephalic subarachnoid hemorrhage from a large tertiary care center (2007–2022). Results Eighty‐one patients were included with mean age of 55.5 ± 10.3 years. An underlying ruptured aneurysm was diagnosed in 5 patients (6.2%); 3 (60%) had negative computed tomography angiography and they were detected only in digital subtraction angiography (2 on initial digital subtraction angiography and 1 on follow‐up digital subtraction angiography). The most common complication was vasospasm in 25/81 patients (31%), and the majority 21/25 (84%) were asymptomatic. Symptomatic vasospasm occurred at a significantly higher rate among patients with underlying aneurysm (40% versus 2.6%; P = 0.01). Hydrocephalus occurred in 10% of patients, all within 1 day, but at a higher rate in the aneurysmal group (40% versus 8%; P = 0.07). A total of 88% of patients had modified Rankin scale score 0–2 at discharge, but at a significantly higher rate in nonaneurysmal patients (91% versus 40%; P = 0.01). An underlying aneurysm, hydrocephalus, and symptomatic vasospasm were associated with poor functional status (odds ratio [OR] = 14.7 [2.1–104]; P = 0.007, OR = 22.6 [4.2–123.5]; P &lt;0.001, OR = 8.6 [1.06–69.88]; P = 0.04), respectively. Conclusion “Benign” perimesencephalic subarachnoid hemorrhage pattern was associated with a ruptured aneurysm in 6.2% of patients, and 3.7% were detected only on cerebral angiogram. Underlying aneurysm, symptomatic vasospasm, and hydrocephalus were associated with lower rates of good clinical outcome. All hydrocephalus cases were symptomatic and occurred very early. Asymptomatic vasospasm alone was not associated with poor outcomes. Our findings suggest that patients with nonaneurysmal perimesencephalic subarachnoid hemorrhage without hydrocephalus can safely be managed with less strict monitoring and a shorter hospital stay.

Clinical and electroencephalogram characteristics of methylmalonic acidemia with MMACHC and MUT gene mutations

ObjectiveThis study investigated the clinical, imaging, and electroencephalogram (EEG) characteristics of methylmalonic acidemia (MMA) with nervous system damage as the primary manifestation.MethodsFrom January 2017 to November 2022, patients with nervous system injury as the main clinical manifestation, diagnosed with methylmalonic acidemia by metabolic and genetic testing, were enrolled and analyzed. Their clinical, imaging, and electroencephalogram data were analyzed.ResultsA total of 18 patients were enrolled, including 15 males and 3 females. The clinical symptoms were convulsions, poor feeding, growth retardation, disorder of consciousness, developmental delay, hypotonia, and blood system changes. There were 6 cases (33%) of hydrocephalus, 9 (50%) of extracerebral space widened, 5 (27%) of corpus callosum thinning, 3 (17%) of ventricular dilation, 3 (17%) of abnormal signals in the brain parenchyma (frontal lobe, basal ganglia region, and brain stem), and 3 (17%) of abnormal signals in the lateral paraventricular. In addition, there were 3 cases (17%) of cerebral white matter atrophy and 1 (5%) of cytotoxic edema in the basal ganglia and cerebral peduncle. EEG data displayed 2 cases (11%) of hypsarrhythmia, 3 (17%) of voltage reduction, 12(67%) of abnormal discharge, 13 (72%) of abnormal sleep physiological waves or abnormal sleep structure, 1 (5%) of immature (delayed) EEG development, and 8 (44%) of slow background. There were 2 cases (11%) of spasms, 1 (5%) of atonic seizures, and 1 (5%) of myoclonic seizures. There were 16 patients (89%) with hyperhomocysteinemia. During follow-up, 1 patient was lost to follow-up, and 1 died. In total, 87.5% (14/16) of the children had varying developmental delays. EEG was re-examined in 11 cases, of which 8 were normal, and 3 were abnormal. Treatments included intramuscular injections of vitamin B12, L-carnitine, betaine, folic acid, and oral antiepileptic therapy. Acute treatment included anti-infective, blood transfusion, fluid replacement, and correcting acidosis. The other treatments included low-protein diets and special formula milk powder.ConclusionMethylmalonic acidemia can affect the central nervous system, leading to structural changes or abnormal signals on brain MRI. Metabolic screening and genetic testing help clarify the diagnosis. EEG can reflect changes in brain waves during the acute phase.

Corticosteroid treatment for acute hydrocephalus in neurosarcoidosis: a case report

BackgroundNeurosarcoidosis occurs symptomatically in 5–10% of patients with sarcoidosis, and hydrocephalus is a rare complication of neurosarcoidosis, with either acute or subacute onset and presenting symptoms related to increased intracranial pressure. It represents a potentially fatal manifestation with a mortality rate of 22% (increased to 75% in case of coexistence of seizures) that requires a prompt initiation of treatment. High-dose intravenous corticosteroid treatment and neurosurgical treatment must be considered in all cases of neurosarcoidosis hydrocephalus.Case presentationHere we present a case of hydrocephalus in neurosarcoidosis, complicated by generalized seizures, in a 29-year-old Caucasian male patient treated with medical treatment only, with optimal response.ConclusionSince neurosurgery treatment can lead to severe complications, this case report underlines the possibility to undergo only medical treatment in selected cases. Further studies are needed to stratify patients and better identify those eligible for only medical approach.

A recurrent synonymous L1CAM variant in a fetus with hydrocephalus

We report the case of a hydrocephalic fetus in which clinical exome sequencing revealed a recurrent synonymous variant of unknown significance, c.453G>T, in the L1CAM gene. This report presents the second case of X-linked hydrocephalus in a fetus with this variant. Since we reproduced the RNA analysis, we were able to reclassify this variant as likely pathogenic. Our results stress the importance of not excluding synonymous variants during prioritization.

Lateral-type posterior fossa ependymomas in pediatric population

BackgroundLateral-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. MethodsAmong 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. ResultsMean 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. ConclusionsThe 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.

Hidrocefalia em Amazona aestiva - relato de caso

ABSTRACT Hydrocephalus is an important neurological disorder rarely described in birds. The present report aims to describe a natural case of hydrocephalus in a blue-fronted parrot (Amazona aestiva) from a conservationist breeding (Minas Gerais, Brazil), clinically affected with neurological signs. The post-mortem lesions noted were megalencephaly, distension and thinning of the skullcap, underdeveloped brain, thickening of the meninges and the presence of a large volume of approximately 10mL of clear cerebrospinal fluid (CSF). The histopathological evaluations demonstrated discrete multifocal malacia, associated with gliosis and neuronal satellitosis in the central nervous system. The screening for viruses revealed the absence of several common etiologies, including Alphavirus (genus universal primers), avian Bornavirus, Alphaherpesvirinae (subfamily universal primers), Paramyxovirus (family universal primers), Newcastle’s disease virus (avian Orthoavulavirus 1), influenza A virus (Alphainfluenzavirus), Marek's disease virus (Mardivirus, Gallid herpesvirus 2), West Nile virus, Flavivirus (Orthoflavivirus universal primers), Apicomplexa (universal primers) and Toxoplasma gondii, all tested negative by PCR or RT-PCR. The aerobic bacteriology and mycology of the CSF did not reveal growth. The results suggest that the chronic accumulation of CSF with increased cranial pressure resulted in distension of the skull, possibly due to congenital causes of increased production, drainage or circulation.

The etiology of pediatric hydrocephalus across Asia: a systematic review and meta-analysis.

Despite the high prevalence and significant implications of pediatric hydrocephalus, the etiological distribution of pediatric hydrocephalus across the diverse Asian demographic is poorly understood. This study aimed to inform clinical guidelines and public health decisions by identifying the etiological distribution of pediatric hydrocephalus across Asia. In this systematic review and meta-analysis, the authors searched EMBASE, MEDLINE, CENTRAL, Global Health, Global Index Medicus, and Scopus, with no language restriction, from inception to January 27, 2023. Observational or experimental studies with pediatric data on the causes of hydrocephalus in a country within Asia were included. Pooled proportions of postinfectious hydrocephalus, nonpostinfectious hydrocephalus, and hydrocephalus related to spinal dysraphism were calculated using a random-effects model. Subgroup analyses were performed on prespecified moderators. Methodological study quality was assessed using the modified Newcastle-Ottawa Score and Cochrane's risk-of-bias tool as per the registered protocol on PROSPERO. The search yielded 5110 results, for which 79 articles were included, with data on 11,529 children from 18 Asian countries. The pooled proportion of nonpostinfectious hydrocephalus was 29.0% (95% CI 22.9-35.5); postinfectious hydrocephalus was 10.7% (95% CI 7.7-14.1); and hydrocephalus secondary to dysraphism was 7.6% (95% CI 5.1-10.5). The pooled proportion of postinfectious hydrocephalus was greatest in lower-middle-income countries (19.2% [95% CI 12.8-26.3]). There was a negative association between the proportion of postinfectious hydrocephalus and Human Development Index (-1.45 [95% CI -2.21 to -0.69]; p < 0.001); urbanization of the country (-0.008 [95% CI -0.012 to -0.004]; p < 0.001); and increasing distance from the equator (-0.016 [95% CI -0.026 to -0.006]; p = 0.002). The pooled proportion of nonpostinfectious hydrocephalus was greatest in high-income countries (36.7% [95% CI 27.6-46.3]). Certain etiologies of pediatric hydrocephalus were more common in different cultural regions, with postinfectious hydrocephalus most common in South Asia (23.2% [95% CI 15.8-31.5]); nonpostinfectious in East Asia (38.3% [95% CI 26.6-50.7]); and dysraphism in West Asia (11.9% [95% CI 6.4-18.8]). Geographic and economic characteristics are associated with the etiological distribution of pediatric hydrocephalus in Asia, with implications for prevention and management strategies. The large proportion of hydrocephalus cases in which the etiology was unclear highlights the need for both improved diagnostics as well as clear and strict universal guidelines on the etiological classification of hydrocephalus.