Healthcare transition in pediatric neurosurgery: lessons learned from a pilot program for patients with hydrocephalus and spina bifida.

OBJECTIVE: The pediatric neurosurgical community has increasingly recognized the importance of healthcare transition, the process of moving a patient from a pediatric to an adult model of care. However, surveys of pediatric neurosurgeons have revealed that few institutions have formal transition programs. Here, the authors share their preliminary experience with the development of a formal transition pilot program for patients with spina bifida and/or hydrocephalus. METHODS: Patients 18 years of age or older with a diagnosis of spina bifida and/or hydrocephalus who were followed by a pediatric neurosurgeon at Connecticut Children's from January 2017 to December 2023 and were recommended to transition to an adult neurosurgeon were retrospectively reviewed. Patients in the informal transition program (ITP) cohort (i.e., the recommendation to transition was made before the formal transition program [FTP] was developed in early 2020) were compared with those in the FTP cohort. RESULTS: Twenty-two patients met inclusion criteria with 7 (31.8%) in the ITP cohort and 15 (68.2%) in the FTP cohort. The median age at the time of the recommendation to transition was similar in both ITP and FTP cohorts (24 [IQR 20-35] years vs 25 [IQR 24-27] years, respectively). Four (57.1%) patients in the ITP cohort had a confirmed visit with an adult neurosurgeon, compared with 13 (86.7%) patients in the FTP cohort (p = 0.274). One patient in the ITP cohort with a failed transition returned to pediatric neurosurgical care, and 1 patient in the FTP cohort required a shunt revision by an adult neurosurgeon within 1 year of the recommendation to transition. CONCLUSIONS: Healthcare transition is recognized as a priority within pediatric neurosurgery, but structured, formal transition programs remain underdeveloped. The authors' preliminary experience with a pilot transition program demonstrated that patients who underwent a formal transition were more likely to successfully establish care with an adult neurosurgeon and trended toward less resource utilization.

Refractory inflammatory hydrocephalus: A case report of a rare and complicated delayed sequelae following cerebral hemispherectomy surgery for epilepsy.

Hydrocephalus is a known complication following surgical resection of a cerebral hemisphere for refractory epilepsy, yet the pathological mechanism remains poorly understood. We present a case of refractory aseptic inflammatory hydrocephalus following cerebral hemispherectomy surgery for refractory epilepsy treated with a combination of cerebral spinal fluid (CSF) diversion and immunosuppression via IL-1 receptor agonist, Anakinra. At 6 month follow up, the patient had returned to neurologic baseline, with improvement in school and physical therapy performance. Further investigation into the beneficial role of immunosuppressive therapy is needed to better understand the relationship between neuro-inflammation and improving outcomes following epilepsy surgery.

Methodological challenges of measuring brain volumes and cortical thickness in idiopathic normal pressure hydrocephalus with a surface-based approach.

Identifying disease-specific imaging features of idiopathic Normal Pressure Hydrocephalus (iNPH) is crucial to develop accurate diagnoses, although the abnormal brain anatomy of patients with iNPH creates challenges in neuroimaging analysis. We quantified cortical thickness and volume using FreeSurfer 7.3.2 in 19 patients with iNPH, 28 patients with Alzheimer's disease (AD), and 30 healthy controls (HC). We noted the frequent need for manual correction of the automated segmentation in iNPH and examined the effect of correction on the results. We identified statistically significant higher proportion of volume changes associated with manual edits in individuals with iNPH compared to both HC and patients with AD. Changes in cortical thickness and volume related to manual correction were also partly correlated with the severity of radiological features of iNPH. We highlight the challenges posed by the abnormal anatomy in iNPH when conducting neuroimaging analysis and emphasise the importance of quality checking and correction in this clinical population.

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.

Hereditary transthyretin amyloidosis with hydrocephalus at 27 years old: A case report.

Hereditary transthyretin amyloidosis is autosomal dominant and results from mutations in the transthyretin gene. The Val30Met variant is the most common genetic mutation, although mutations vary within populations. More than 150 mutations in transthyretin have been reported; however, the Leu111Glu (p. Leu131Glu) mutation has been reported to date. We report the case of a 32-year-old Japanese male with a history of cerebral hemorrhage and hydrocephalus at age 27 years. The patient was referred to our department after his sibling had been diagnosed with hereditary transthyretin amyloidosis. Twelve-lead electrocardiography exhibited poor R progression, and transthoracic echocardiography showed normal findings. 99mTc-labelled pyrophosphate scintigraphy showed high accumulation in the heart. Histological tests using a right ventricular endomyocardial biopsy showed amyloid deposits and immunostaining only for transthyretin. Genetic analysis confirmed a novel missense variant, Leu111Glu, on the transthyretin gene. We diagnosed the patient with hereditary transthyretin amyloidosis, and the patient received genetic counseling. Patients with hereditary transthyretin amyloidosis carrying the Leu111Gln variant may present as a patient with a hydrocephalus-dominant phenotype. To the best of our knowledge, this is the first case report of the transthyretin Leu111Glu variant. Learning objective: Hereditary transthyretin amyloidosis with the Leu111Gln variant has not been previously reported in Japan. While cardiac involvement progresses without overt abnormal findings on electrocardiogram and echocardiogram, 99mTc-labelled pyrophosphate scintigraphy can be a useful tool for the early diagnosis of hereditary transthyretin amyloidosis. This mutation may result in a predominantly hydrocephalus phenotype, and organ damage is expected to progress rapidly. Therefore, early diagnosis and appropriate treatment are necessary.

The prenatal imaging of a rare congenital intracranial teratoma.

Fetal intracranial teratoma presents a rare and devastating diagnosis. Typically, this condition is first detected during routine prenatal ultrasounds, appearing as an irregular heterogeneous lesion. Further insights are gained through fetal magnetic resonance imaging (MRI), better characterizing the anomaly. The combination of these modalities provides detail-oriented high resolution MRI images, while follow-up ultrasounds capture dynamic growth changes, serving as a cost-effective and easily accessible adjunct. This fast-growing tumor leads to macrocephaly and ventriculomegaly, causing severe distortion of the brain parenchyma. Early detection is crucial for effective fetal management and preventing maternal complications. Unfortunately, treatment options are limited due to the tumor's aggressive nature, typically resulting in fetal demise shortly after birth. Here, we present the sonographic and MRI findings of a congenital intracranial teratoma, reaching massive proportions and replacing the entire cerebral hemisphere.

Awareness level of idiopathic normal pressure hydrocephalus among health-care providers.

Background: Idiopathic normal pressure hydrocephalus (iNPH) is a disease that primarily affects the geriatric population. It was first introduced by Adams et al. in 1965. A gradual decline in cognitive function, urinary incontinence, and gait disturbances characterizes the disease. This condition is believed to be underdiagnosed, and awareness of such pathology is vital, as the treatment is very effective and can reverse the symptoms. Methods: This questionnaire-based cross-sectional study aimed to assess awareness levels regarding iNPH among non-neuroscience healthcare providers in Saudi Arabia. Results: A total of 269 healthcare providers participated in this study, with data collected through an online questionnaire. About 80.6% of the participants had heard of the disease, while 56.5% were aware of the disease symptomology. About 50% of physicians did not encounter iNPH patients in clinical practice. Previous clinical exposure to iNPH patients correlates significantly with an awareness of disease symptoms, investigation, treatment modalities, and outcome. Clinical experience positively impacts physicians' awareness as it correlates with a better understanding of diagnostic methods and disease outcomes. Conclusion: The study highlights the need for targeted educational interventions, especially among family physicians and general practitioners with no previous experience with iNPH patients, as well as interdisciplinary collaboration to address gaps in awareness and enhance early diagnosis of iNPH patients.

Ventriculoperitoneal shunt extrusion in pediatric patients, clinical patterns and therapeutic strategies: A scoping review.

Background: Ventriculoperitoneal shunts (VPSs) are frequently employed in neurosurgery to treat hydrocephalus, with a particular focus on pediatric patients. Although VPSs are commonly utilized, they are not exempt from difficulties, such as shunt extrusion. The main aim of this study is to enhance comprehension regarding the occurrence, causes contributing to, and consequences of VPS extrusion in pediatric patients. Methods: A comprehensive search approach was implemented, including electronic databases, including PubMed, Google Scholar, and Scopus, to locate pertinent articles published between January 1950 and May 2023. The utilization of keywords such as "ventriculoperitoneal shunt" and "extrusion," "ventriculoperitoneal shunt" and "migration," and "ventriculoperitoneal shunt" and "perforation" was employed. Data on patient demographics, underlying diseases, origin of extrusion, presenting symptoms, treatment, and follow-up were gathered. Statistical studies were conducted to identify potential risk factors connected with the occurrence of shunt extrusion. Results: A study analyzed 80 studies on 120 individuals with extruded VPS catheters. The majority of patients (55.8%) had symptoms such as cerebrospinal fluid leakage and irritation. Hydrocephalus was categorized into congenital (40%), obstructive (36.7%), and communicating (11.7%) groups. Catheter extrusion sites varied, with most from the anal or rectal site. Preoperative meningitis or peritonitis was present in 20% of patients. Treatments ranged from shunt removal to endoscopic third ventriculostomy, resulting in a 90% recovery rate, 1.7% mortality, and 5% follow-up loss. Conclusion: Extrusion of the distal catheter in VPSs is a critical medical situation that necessitates urgent surgical intervention. The presence of an infection raises the likelihood of complications; hence, it is vital to promptly address the issue through the administration of antibiotics and the replacement of the shunt. Timely intervention enhances results.

Communicating hydrocephalus after resection of a meningioma ventral to the foramen magnum.

Background: Tumors in or near the foramen magnum may cause communicating or non-communicating hydrocephalus (HC), depending on their size and location. Here, an 81-year-old female developed communicating HC following the resection of a meningioma ventral to the foramen magnum. Case Description: An 81-year-old female presented with numbness in the left neck and left hemiparesis. The magnetic resonance revealed an 18-mm tumor ventral to the foramen magnum that significantly enlarged over the past 6 months. She underwent total tumor resection but then presented with progressive HC both clinically (i.e., instability of gait with confusion) and radiographically (computed tomography). Following placement of a lumboperitoneal (LP) shunt, symptoms markedly improved. Further, the cerebrospinal fluid (CSF) analysis showed elevated cell counts and protein concentrations, indicating likely "leakage" of intratumoral contents postoperatively contributing to the progressive HC. Conclusion: Patients presenting with acute meningiomas ventral to the foramen magnum may develop postoperative communicating HC attributed to tumor-related CSF leakage of necrotic intratumoral components that can be successfully treated with a LP shunt.

Neurosurgical intervention for giant arachnoid cyst-induced hydrocephalus in a teenager: Delving into Pandora's box.

Early recognition and prompt surgical intervention are crucial in managing giant arachnoid cysts causing obstructive hydrocephalus, as illustrated in this case of a 17-year-old male. Timely treatment can alleviate symptoms and prevent neurologic complications, ensuring favorable outcomes in affected patients.

Emergency Resection of a Large Third Ventricle Colloid Cyst: Ipsilateral vs. Contralateral Interhemispheric Approach Based on the Hydrocephalus Status.

Colloid cysts of the third ventricle are rare, benign intracranial tumors that can cause significant neurological symptoms and complications, particularly when they lead to obstructive hydrocephalus. The aim of this study is to present a case of a large third ventricle colloid cyst causing acute hydrocephalus and fainting attacks, necessitating emergency surgery. This is a case of a 46-year-old female presenting with headaches and recurrent fainting attacks. Cardiac evaluations were normal. Brain MRI revealed a 3x3 cm cystic lesion in the anterior superior portion of the third ventricle, causing moderate hydrocephalus with a transependymal edema. Due to acute hydrocephalus and fainting attacks attributed to arrhythmias from hypothalamic compression, emergency surgical resection was performed. A contralateral interhemispheric transcallosal approach with a right frontal craniotomy was used to achieve gross total resection. Postoperative recovery was uneventful, and a follow-up MRI showed an empty tumor bed and resolved hydrocephalus. In conclusion, prompt diagnosis and emergency surgical intervention are crucial in cases of acute hydrocephalus caused by third ventricle colloid cysts. The successful outcome of this emergency resection demonstrates the effectiveness of timely surgical management in preventing severe complications.

A clinical evaluation of variation in paediatric intracranial pressure waveforms.

Introduction: Intracranial pressure (ICP) monitoring is commonly used in investigating the aetiology of chronic paediatric neurological conditions. A series of high-amplitude spikes has been observed in overnight ICP recordings of some children, many of whom have hydrocephalus or craniosynostosis. Research question: This clinical evaluation aimed to define the spike pattern, describe the patient group in which it is most likely to occur, and conduct high-resolution waveform analysis. Material and methods: ICP waveforms from 40 patients aged 0-5 years (inclusive), recorded between 2017 and 2021 at the Royal Hospital for Children Glasgow, were retrospectively analysed. The pattern was defined through visual inspection of regions of interest by two reviewers. Patients were stratified using demographic and clinical data. R software was used to perform regression and high-resolution waveform analyses. Results: The spike pattern was defined as the presence of 2 consecutive spikes with an amplitude of at least 8 mmHg, with a gap of at least 30 min between spikes. In the adjusted Poisson regression, age was significantly associated with the number of spikes (IRR 0.8, 95% CI 0.70 to 0.92, p-value 0.001). Discussion and conclusion: Younger age was significantly associated with an increased number of spikes in this cohort. Investigation of clinical consequences of the spikes is warranted.

Ventriculoatrial shunt remains a safe surgical alternative for hydrocephalus: a systematic review and meta-analysis.

Hydrocephalus is a commonly encountered pathology in the neurosurgical practice. Since the first permanent ventriculo-subarachnoid-subgaleal shunt described by Mikulicz in 1893, there were multiple attempts to find solutions for draining the excess production/less reabsorption of the cerebrospinal fluid (CSF) from the brain. Nowadays, the most common technique is the ventriculoperitoneal shunt (VPS), whereas the ventriculoatrial shunt (VAS) is applied only in some rare conditions. To date there are still no specific guidelines or strong evidence in literature that guide the surgeon in the choice between the two methods, and the decision usually relies on the confidence and expertise of the surgeon. Considering the lack of established recommendations, this systematic review and meta-analysis aims to evaluate the effectiveness and safety of these two shunting techniques. This systematic review was conducted following the PRISMA protocol (Preferred Reporting Items for Systematic Reviews and Meta-Analyses). No chronological limits of study publications were included. Prospective and retrospective clinical studies, and reports of case series with at least five patients per group and reporting data on comparison between VAS and VPS techniques were eligible for inclusion. Nine studies reporting 3197 patients meeting the inclusion and exclusion criteria were identified and included in the quantitative synthesis. The risk of shunt dysfunction/obstruction was significantly lower in the VAS group [odds ratio (OR) 0.49, 95%-CI 0.34-0.70, I2 0%]. The risk of infection was not significantly different between the two groups (OR 1.02, 95%-CI 0.59-1.74, I2 0%). The risk of revision was not significantly different between the two groups; however, the heterogeneity between the studies was significant (OR 0.73, 95%-CI 0.36-1.49, I2 91%). Additionally, the risk of death was not significantly different between the two groups; however, the heterogeneity between the studies was high (OR 1.93, 95%-CI 0.81-4.62, I2 64%). VAS remains a safe surgical alternative for hydrocephalus. The results of this study highlight a lower risk of shunt dysfunction/obstruction variable in the VAS group, with no significant statistical differences regarding the occurrence of at least one infection-related complication. In consequence, the choice between these two techniques must be tailored to the specific characteristics of the patient.Protocol Registration: The review protocol was registered and published in Prospective Register of Systematic Reviews (PROSPERO) ( www.crd.york.ac.uk/PROSPERO ) website with registration number: CRD42023479365.

Acute acquired comitant esotropia associated with Lhermitte-Duclos disease: a case report.

BACKGROUND: Acute acquired comitant esotropia caused by prolonged near work, such as the use of digital devices, has been frequently reported in recent years. However, intracranial examination is necessary even for patients with nonparalytic comitant esotropia. Lhermitte-Duclos disease is a rare tumor that grows in layers in the cerebellum. Among those with this disease, cases of esotropia have been reported due to abduction limitation of the eye, but there have been no reports of comitant esotropia. Here, we report the case of a young woman with acute acquired comitant esotropia who was found to have Lhermitte-Duclos disease. CASE PRESENTATION: A 16-year-old Japanese female patient, whose ethnicity was Asian, was referred to our hospital for acute acquired comitant esotropia. Fundus examination revealed papilledema in both eyes, and magnetic resonance imaging of the head revealed a cerebellar tumor in the right cerebellum with obstructive hydrocephalus. She underwent partial tumor resection, and a histopathological diagnosis of Lhermitte-Duclos disease was obtained. However, comitant esotropia status remained unchanged, and she underwent strabismus surgery. Finally, diplopia disappeared completely. CONCLUSION: Neurological and intracranial imaging examinations are essential when acute acquired comitant esotropia is observed. Acute acquired comitant esotropia by Lhermitte-Duclos disease did not improve with partial tumor resection and required strabismus surgery, but good surgical results were obtained.

Augmented Reality-Guided External Ventricular Drain Placement: A Case Report.

The placement of an external ventricular drain (EVD) is a critical neurosurgical procedure used to relieve intracranial pressure in patients with conditions such as hydrocephalus, traumatic brain injury, and intracranial hemorrhage. Traditional methods rely heavily on anatomical landmarks and the surgeon's experience, which can lead to variability in outcomes and increased risk of complications. Neuronavigation, while available, is infrequently used due to the size, cost, and set-up times associated with these devices. This report explores the use of a headset-based augmented reality (AR) system for guidance during the EVD placement procedure. We describe an AR system that overlays a 3D model of the patient's cranial anatomy, derived from preoperative imaging, onto the patient's head. This system is a head-mounted display and utilizes a rapid fiducial-less registration to provide the surgeon with visualization of 3D anatomy, and targeted trajectories. The system was used with a 32-year-old patient undergoing EVD placement prior to a cranioplasty. Due to the atypical cranial anatomy and due to prior procedures and midline shift, this relatively high-risk catheter placement was an ideal circumstance for the use of AR guidance during the EVD placement. This report described an early use of AR for EVD placement and represents a substantial advancement in neurosurgical practice, offering enhanced precision, efficiency, and safety. Further large-scale studies are warranted to validate these findings and explore the broader applicability of AR in other neurosurgical procedures.

Designing an interoperable patient portal to augment an Advanced Nurse Practitioner service for Children with hydrocephalus.

Background: Children's Health Ireland (CHI), who govern and operate acute paediatric services for the greater Dublin area, are also the client for the new children's hospital project which will be Ireland's first fully digital hospital. Design, development and implementation of digital solutions has been prioritised by the National Strategy for Children's Nursing to transform and accelerate nurse-led services. Aim: The aim of this phase of a larger study was to explore the perspectives and opinions of key stakeholders on the requirements, benefits, and challenges for a bespoke patient portal, with a specific focus on the ANP-led Neurosurgical Service and children and young people with hydrocephalus. Methods: Interviews and focus groups were held online, and data were recorded and transcribed verbatim. Twenty-three participants across eight sites were interviewed including parents, healthcare professionals, experts and management/administrators. Data were analysed using Braun and Clarke's (2006) framework. Results: Four key findings and considerations were identified in relation to patient portals in general and their interoperability with Electronic Health Records, as well as a bespoke patient portal for children and young people with hydrocephalus. Conclusions: The availability of a patient portal for children and young people with hydrocephalus would be hugely advantageous to their parents, the ANP led nursing service, and healthcare professionals in both the neurosurgical service at CHI and at regional healthcare organisations as well as for administration, research, and reports. More timely access to health data as well as a consistent log of information and communications between patients and healthcare professionals, would be more efficient and effective than current practices.The augmented ANP-led Neurosurgical Nursing Service at CHI will act as a pilot project from which other nurse-led digital patient services can learn from. Study Registration: This study was conducted between September 2022 and June 2023. It was registered in Trinity College Dublin, Ireland. Twitter Abstract: A study exploring requirements, benefits, & challenges for an interoperable patient portal in an ANP led Service for children with hydrocephalus.

Risk factors of shunt-dependent hydrocephalus after subarachnoid hemorrhage: a systematic review and meta-analysis based on observational cohort studies.

Shunt dependent hydrocephalus (SDHC) is a common sequel after aneurysmal subarachnoid hemorrhage (aSAH) and factors contributing to the development of SDHC remain obscure. The aim of this study was to identify predictors of SDHC following aSAH. We conducted a systematic review based on the Meta-analysis of Observational Studies in Epidemiology (MOOSE) guidelines. We searched electronic databases including Pubmed, Embase, and Cochrane databases from 1980 through August 2019 for studies on the risk factors of SDHC after aSAH. Inclusion criteria were: (1) SAH and hydrocephalus confirmed by CT or magnetic resonance imaging findings; (2) the odds ratios (ORs) or the relative risk (RR) with 95% confidence interval (95%CI; or crude data that allowed their calculation) were reported; and (3) languages were restricted to English and Chinese. Two independent authors collected the data including study design, characteristics of patients and potential risk factors. Random-effects models were used to estimate weighted mean differences (WMD), relative risks (RR) with corresponding 95% confidence intervals (CI). For analysis with significant heterogeneity, subgroup analyses stratified by study design and geographic area were performed. In all, 37 cohort studies met inclusion criteria. Several factors were associated with SDHC. Infection, acute hydrocephalus, placement of external ventricular drainage, older age, higher Hunt and Hess grade, intraventricular hemorrhage, rebleeding, and mechanical ventilation were associated with greater 2-fold increased risk of SDHC. Vasospasm, female gender, high Fisher grade, preexisting hypertension, aneurysm in posterior location and intracerebral hemorrhage were associated with less than 2-fold increased risk. Treatment modality and diabetes mellitus were not associated with SDHC. SDHC is a multi-factorial disease that is associated with patient and treatment factors. Acknowledgement of these potential factors could help prevent SDHC.

Congenital hydrocephalus: a review of recent advances in genetic etiology and molecular mechanisms.

The global prevalence rate for congenital hydrocephalus (CH) is approximately one out of every five hundred births with multifaceted predisposing factors at play. Genetic influences stand as a major contributor to CH pathogenesis, and epidemiological evidence suggests their involvement in up to 40% of all cases observed globally. Knowledge about an individual's genetic susceptibility can significantly improve prognostic precision while aiding clinical decision-making processes. However, the precise genetic etiology has only been pinpointed in fewer than 5% of human instances. More occurrences of CH cases are required for comprehensive gene sequencing aimed at uncovering additional potential genetic loci. A deeper comprehension of its underlying genetics may offer invaluable insights into the molecular and cellular basis of this brain disorder. This review provides a summary of pertinent genes identified through gene sequencing technologies in humans, in addition to the 4 genes currently associated with CH (two X-linked genes L1CAM and AP1S2, two autosomal recessive MPDZ and CCDC88C). Others predominantly participate in aqueduct abnormalities, ciliary movement, and nervous system development. The prospective CH-related genes revealed through animal model gene-editing techniques are further outlined, focusing mainly on 4 pathways, namely cilia synthesis and movement, ion channels and transportation, Reissner's fiber (RF) synthesis, cell apoptosis, and neurogenesis. Notably, the proper functioning of motile cilia provides significant impulsion for cerebrospinal fluid (CSF) circulation within the brain ventricles while mutations in cilia-related genes constitute a primary cause underlying this condition. So far, only a limited number of CH-associated genes have been identified in humans. The integration of genotype and phenotype for disease diagnosis represents a new trend in the medical field. Animal models provide insights into the pathogenesis of CH and contribute to our understanding of its association with related complications, such as renal cysts, scoliosis, and cardiomyopathy, as these genes may also play a role in the development of these diseases. Genes discovered in animals present potential targets for new treatments but require further validation through future human studies.

Chiari malformation type III and its viability. Case report and literature review.

Chiari malformation type III is a rare congenital anomaly. It consists of the posterior fossa contents herniation through an occipital or high cervical encephalocele sac. Although it has traditionally been associated with a high mortality rate, the absence of certain poor prognostic factors and appropriate medical and surgical treatment allow these children to survive and have a remarkable initial functional improvement. Surgical goals are defect repair, preservation of viable brain tissue, adequate skin coverage and hydrocephalus management. Despite all of this, the tendency of these newborns is to maintain a significant disability and if they present poor prognostic criteria, they usually demise within a short period of time. We report the case of a newborn with Chiari malformation type III diagnosed during pregnancy. After characterizing the anomaly with a postnatal MRI, the encephalocele was excised and multi-layer closure was performed. The patient progressively developed hydrocephalus during the postoperative period and required ventriculoperitoneal shunt placement. After an initial uneventful course, our patient suffered several episodes of respiratory disturbances. The child became ventilator dependent and palliative care was established in agreement with the parents after ruling out shunt malfunction.

To shunt or not to shunt when closing myelomeningocele? A systematic review and meta-analysis of simultaneous versus delayed ventriculoperitoneal shunt placement in neonates undergoing myelomeningocele closure.

OBJECTIVE: Approximately 70%-80% of children born with myelomeningocele develop hydrocephalus and need CSF diversion, commonly a ventriculoperitoneal shunt (VPS) placement. The optimal timing of surgery is not known, but many centers delay VPS placement and perform it in a separate surgery to avoid shunt complications, mainly shunt contamination and infection. This systematic review and meta-analysis aimed to compare shunt-related complications between populations with VPS surgery performed either simultaneously with myelomeningocele closure or with delay. METHODS: The authors searched MEDLINE (PubMed), Scopus, Web of Science, Cochrane Central Register of Controlled Trials, and Cochrane Database of Systematic Reviews databases on December 15, 2022, and November 11, 2023, using a predefined search strategy. Randomized and nonrandomized trials of neonates undergoing postnatal myelomeningocele closure and VPS placement before the age of 29 days were included. Cases with prenatal myelomeningocele closure and hydrocephalus treatment other than a VPS were excluded. All studies were screened and assessed by two independent reviewers. The authors performed a meta-analysis pooling risk ratios (RRs) with a 95% CI using the random-effects model. The quality of studies was assessed using the Newcastle-Ottawa Scale. RESULTS: After screening and a full-text review of 2099 database search results, 12 studies with a total number of 4894 patients were included. All studies were nonrandomized studies. Only 2 studies were ranked as good quality on the Newcastle-Ottawa Scale. No statistically significant differences were found between simultaneous and delayed shunt insertion in terms of shunt infection (RR 0.77, 95% CI 0.41-1.42); shunt revision (RR 0.49, 95% CI 0.19-1.30); overall mortality (RR 0.87, 95% CI 0.09-8.57); wound CSF leak (RR 0.20, 95% CI 0.03-1.23); or myelomeningocele wound dehiscence (RR 0.52, 95% CI 0.07-3.71). In the subgroup analysis of studies conducted in high-income countries, simultaneous shunting was superior to delayed shunting concerning shunt infection (RR 0.49, 95% CI 0.31-0.78) and shunt revision (RR 0.30, 95% CI 0.09-0.95). CONCLUSIONS: This systematic review and meta-analysis found no statistically significant differences in shunt-related complications between simultaneous and delayed VPS surgery in myelomeningocele-related hydrocephalus in neonates. The current literature does not support the common practice of delayed shunting or its alternative, simultaneous shunting.