Idiopathic cardiac ossification with Chiari mesh in the right atrium: a case report and literature review.

Background: Idiopathic cardiac osseous metaplasia in the right atrium of a 9-year-old boy, accompanied by right atrial Chiari network and right pulmonary artery embolism. This case is rare and can easily be misdiagnosed. Case Description: We encountered a case of a 9-year-old boy with a 3.5 cm diameter neoplasm in the right atrium. Preoperative imaging diagnosis could not determine the nature of the tumor, and the initial clinical suspicion of cardiac myxoma. After admission, a cardiotomy to remove foreign bodies and a pulmonary artery thrombectomy were performed. Conclusions: Idiopathic cardiac osseous metaplasia is relatively rare, and it is even rarer to be accompanied by a Chiari network in the right atrium. Due to the location and characteristics of the lesion in this case, it is easy to be misdiagnosed as atrial myxoma in clinical practice. Whether it is idiopathic osseous metaplasia or myxoma, it needs to be performed surgical treatment and pathological examination can easily rule out the diagnosis of myxoma. However, as idiopathic cardiac metaplasia is difficult to encounter in clinical work and there are few reports in the literature, clinicians and pathologists need to consult more relevant literature. Learn to understand and master the disease through multi-party consultation.

Chiari Malformation Type I With Concurrent Bilateral Optic Disc Drusen: Is Follow-up Necessary?

Pseudopapilledema caused by optic disc drusen (ODD) mimics the appearance of papilledema and usually presents as a diagnostic challenge. A young boy with known Chiari malformation type 1 (CM-1) was referred to the pediatric ophthalmology clinic for eye assessment to exclude papilledema due to elevated intracranial pressure (ICP). Despite the ophthalmic examination revealing bilateral optic disc elevation, multimodal imaging techniques such as fundus autofluorescence, optical coherence tomography (OCT), and B-scan ultrasonography are recommended to confirm the distinction between bilateral ODD causing pseudopapilledema and papilledema secondary to elevated ICP. Accidental coexistent papilledema mimickers like ODD need to be considered in patients with CM-1 before making a diagnosis of papilledema to avoid unnecessary invasive procedures. There was no evidence that the presence of ODD excludes the possibility of future optic nerve head changes due to elevated ICP. The multidisciplinary consensus decided on annual ophthalmology follow-ups using multimodal imaging to detect any subtle optic nerve head changes.

Assessing Health-Related Quality of Life in Children With Spina Bifida in Lithuania.

Introduction In recent years, more emphasis has been placed on improving the health-related quality of life (HRQOL) in children with spina bifida (SB). Chronic disability is understood to impact various aspects of the person's life, family, and social functioning, in addition to the specific needs of the disease. The HRQOL is done to assess the patient's quality of life (QOL) in various domains including physical and mental. Back in the 1900s, few children survived SB, whereas today, they almost have normal life expectancy. By understanding the contributing factors to the quality of life (QOL), more targeted interventions can be put in place in order to maximize the psychological and social well-being of these patients. Aim The aim of this study is to estimate the health-related quality of life (HRQOL) in Lithuanian children with spina bifida (SB) in relation to comorbidities, level of lesions, and mobility. Objectives The objectives of this study are to investigate the HRQOL of Lithuanian children with SB born between 1999 and 2012; to analyze the relation between the HRQOL and its comorbidities, including hydrocephalus, Chiari II malformation, incontinence, and epilepsy; and to determine the relationship of health variables, the level of lesions, and mobility to the HRQOL. Methods This was a quantitative cross-sectional study on children with spina bifida across Lithuania to assess the HRQOL. Subjects were chosen and interviewed from various cities including Kaunas, Vilnius, Marijampole, Gargzdai, Birzai, Panevezys, Palanga, and Alytus. A questionnaire was used as an instrument to measure the HRQOL. The level of lesions, comorbidities, and other health variables were obtained from the medical files and directly from the patient's history. Results Regarding the HRQOL, our study population showed the highest scores in the emotional, medical, intellectual, and social domains. The lowest sub-scores were in recreational, vocational, environmental, and then physical domains. We also found that certain comorbidities including hydrocephalus, epilepsy, and incontinence negatively affected the QOL. In our study group, we also found that the ambulatory group scored significantly higher in the overall QOL. However, when comparing the level of lesions to the HRQOL, we found no statistically significant difference. Conclusion Positive results were obtained regarding the medical, emotional, intellectual, and social aspects of patients with SB in Lithuania as they scored high in this domain. However, the environmental and vocational domains scored low, suggesting that further examination needs to be carried in these domains. We concluded that having various comorbidities including hydrocephalus and incontinence has negative impacts on the QOL. Patients who suffered from epilepsy had a statistically significant lower QOL. No significant difference was found in the association between the level of lesion and the QOL in our study.

Vocal Cord Paralysis in Pediatric Chiari Malformation: A Systematic Review and Meta-analysis.

OBJECTIVE: Arnold-Chiari Malformation is one possible cause of congenital vocal cord paralysis (VCP). The natural history of VCP in children with Chiari malformation has previously been limited to small case studies. This systematic review seeks to better characterize the prognostic factors that may predict symptom severity and resolution of congenital VCP in children with Arnold-Chiari malformation. We hypothesized that the onset of stridor or VCP at a younger age would be associated with a poorer prognosis and earlier intervention with posterior fossa decompression would be associated with better outcomes. DATA SOURCES: PubMed, Web of Science, Cochrane Library, and bibliographic review. REVIEW METHODS: A systematic review was performed according to Preferred Reporting Items for Systematic Reviews and Meta-analyses guidelines. Database search yielded 866 articles. Study abstracts were reviewed by 2 independent examiners. One hundred and seventy-six studies underwent full-text review. The following were extracted: age at onset of stridor or VCP, Chiari malformation type, laryngoscopy findings, type and timing of neurosurgical intervention, and tracheostomy history. Statistical analyses utilized χ2 tests. RESULTS: Younger age at symptom onset showed statistically significant associations with decreased likelihood for symptom resolution and tracheostomy decannulation. The shorter time interval from symptom onset to neurosurgical intervention was not significantly associated with better outcomes. CONCLUSION: This meta-analysis suggests poorer prognosis in those with earlier-onset symptoms, reinforcing prior case series findings. Additional prospective studies are needed to elucidate the natural history and utility of early intervention in children with vocal cord paralysis secondary to Chiari malformation.

Intracranial pulse pressure amplitude as an indicator of intracranial compliance: observations in symptomatic children with Chiari malformation type I.

OBJECTIVE: Reduced intracranial compliance (ICC) may be an important factor in the pathophysiology of Chiari malformation type I (CM-I). However, direct measurement of ICC is controversial because of its invasiveness, particularly in children. Instead, ICC may be estimated from continuous measurements of intracranial pressure (ICP), where the metric mean wave amplitude (MWA) has been found to be more useful as a surrogate marker of ICC than mean ICP. This observational study investigated the distribution of MWA and mean ICP in symptomatic children with CM-I, as well as their association with clinical and radiological findings. METHODS: From a consecutive series of children treated for CM-I at a single institution between 2006 and 2023, the authors analyzed ICP scores in those who underwent an overnight preoperative ICP recording in which MWA was calculated. Clinical and radiological data were retrieved from the patient records. RESULTS: Thirty-seven children (mean age 12.4 ± 3.6 years) with symptomatic CM-I were identified. From the overnight ICP measurements, the average MWA was 5.2 ± 1.3 mm Hg: 56% of children had an abnormal MWA (> 5 mm Hg) and 33% had a borderline MWA (4-5 mm Hg). In contrast, the average mean ICP was 9.7 ± 4.1 mm Hg: 8% of children had an abnormal mean ICP (> 15 mm Hg) and 41% had a borderline mean ICP (10-15 mm Hg). Thus, more children were found to have an abnormal MWA than an abnormal mean ICP (p < 0.001). MWA was significantly higher in the subgroup of children with medullary compression in the foramen magnum, as seen on MRI, than in those without (5.6 ± 1.0 mm Hg vs 4.7 ± 1.4 mm Hg, p = 0.03), whereas a similar difference was not observed for mean ICP (9.9 ± 4.6 mm Hg vs 9.7 ± 3.7 mm Hg, p = 0.889). CONCLUSIONS: In this cohort of symptomatic children with CM-I, MWA was more frequently abnormal than mean ICP, with a clinically significant discrepancy in half of the patients. Moreover, MWA was significantly higher in patients with medullary compression. Based on these findings, the authors' interpretation is that in children with CM-I, the ICC may be reduced, as indicated by increased MWA, even though the mean ICP is within normal thresholds.

Is foramen magnum decompression for acquired Chiari I malformation like putting a finger in the dyke? - A simplistic overview of artificial intelligence in assessing critical upstream and downstream etiologies.

Background: Missed diagnosis of evolving or coexisting idiopathic (IIH) and spontaneous intracranial hypotension (SIH) is often the reason for persistent or worsening symptoms after foramen magnum decompression for Chiari malformation (CM) I. We explore the role of artificial intelligence (AI)/convolutional neural networks (CNN) in Chiari I malformation in a combinatorial role for the first time in literature, exploring both upstream and downstream magnetic resonance findings as initial screening profilers in CM-1. We have also put together a review of all existing subtypes of CM and discuss the role of upright (gravity-aided) magnetic resonance imaging (MRI) in evaluating equivocal tonsillar descent on a lying-down MRI. We have formulated a workflow algorithm MaChiP 1.0 (Manjila Chiari Protocol 1.0) using upstream and downstream profilers, that cause de novo or worsening Chiari I malformation, which we plan to implement using AI. Materials and Methods: The PRISMA guidelines were used for "CM and machine learning and CNN" on PubMed database articles, and four articles specific to the topic were encountered. The radiologic criteria for IIH and SIH were applied from neurosurgical literature, and they were applied between primary and secondary (acquired) Chiari I malformations. An upstream etiology such as IIH or SIH and an isolated downstream etiology in the spine were characterized using the existing body of literature. We propose the utility of using four selected criteria for IIH and SIH each, over MRI T2 images of the brain and spine, predominantly sagittal sequences in upstream etiology in the brain and multiplanar MRI in spinal lesions. Results: Using MaChiP 1.0 (patent/ copyright pending) concepts, we have proposed the upstream and downstream profilers implicated in progressive Chiari I malformation. The upstream profilers included findings of brain sagging, slope of the third ventricular floor, pontomesencephalic angle, mamillopontine distance, lateral ventricular angle, internal cerebral vein-vein of Galen angle, and displacement of iter, clivus length, tonsillar descent, etc., suggestive of SIH. The IIH features noted in upstream pathologies were posterior flattening of globe of the eye, partial empty sella, optic nerve sheath distortion, and optic nerve tortuosity in MRI. The downstream etiologies involved spinal cerebrospinal fluid (CSF) leak from dural tear, meningeal diverticula, CSF-venous fistulae, etc. Conclusion: AI would help offer predictive analysis along the spectrum of upstream and downstream etiologies, ensuring safety and efficacy in treating secondary (acquired) Chiari I malformation, especially with coexisting IIH and SIH. The MaChiP 1.0 algorithm can help document worsening of a previously diagnosed CM-1 and find the exact etiology of a secondary CM-I. However, the role of posterior fossa morphometry and cine-flow MRI data for intracranial CSF flow dynamics, along with advanced spinal CSF studies using dynamic myelo-CT scanning in the formation of secondary CM-I is still being evaluated.

Magnetic Resonance Imaging-Related Anatomic and Functional Parameters for the Diagnosis and Prognosis of Chiari Malformation Type I: A Systematic Review and Meta-analysis.

OBJECTIVE: Imaging parameters of Chiari malformation type I (CMI) development are not well established. This study aimed to collect evidence of general or specific imaging measurements in patients with CMI, analyze indicators that may assist in determining the severity of CMI, and guide its diagnosis and treatment. METHODS: A comprehensive search was conducted across various databases including the Cochrane Library, PubMed, MEDLINE, Scopus, and Embase, covering the period from January 2002 to October 2023, following predefined inclusion criteria. Meta-analyses were performed using RevMan (ver. 5.4). We performed a quantitative summary and systematic analysis of the included studies. This study was registered in the PROSPERO (International Prospective Register of Systematic Reviews) prior to initiation (CRD42023415454). RESULTS: Thirty-three studies met our inclusion criteria. The findings indicated that out of the 14 parameters examined, 6 (clivus length, basal angle, Boogard's angle, supraocciput lengths, posterior cranial fossa [PCF] height, and volume) exhibited significant differences between the CMI group and the control group. Furthermore, apart from certain anatomical parameters that hold prognostic value for CMI, functional parameters like tonsillar movement, obex displacement, and cerebrospinal fluid dynamics serve as valuable indicators for guiding the clinical management of the disease. CONCLUSION: We collated and established a set of linear, angular, and area measurements deemed essential for diagnosing CMI. However, more indicators can only be analyzed descriptively for various reasons, particularly in prognostic prediction. We posit that the systematic assessment of patients' PCF morphology, volume, and other parameters at a 3-dimensional level holds promising clinical application prospects.

Guidewire entrapment in the Chiari network during the insertion of a hemodialysis catheter: a case report.

BACKGROUND: The Chiari network, a remnant of fetal anatomy, consists of a mesh-like structure within the right atrium. With advancements in cardiac interventions, complications associated with the Chiari network have increasingly been reported. However, there are few reports about guidewire or catheter entrapment in the Chiari network during the insertion of a dialysis catheter. CASE PRESENTATION: A 46-year-old male with end-stage renal disease was hospitalized and underwent a digital subtraction angiography-assisted catheterization of the right internal jugular vein tunnel-cuffed dialysis catheter. When the guide wire entered a depth of about 20 cm, it was difficult to advance, manifested as resistance when twisting the guide wire and inability to enter the inferior vena cava. After the peelable sheath was inserted, it was difficult to pull out the guide wire. After repeated attempts to rotate the guide wire, the guide wire was finally pulled out. A fibrous tissue was wrapped around the tip of the guide wire. Its length was 6 cm, with a smooth surface and tough texture. We considered that the tissue we pulled out was most likely a part of a Chiari network. CONCLUSIONS: This case highlights the potential for the Chiari network to complicate surgical procedures, including difficulty with guidewire and catheter manipulation. Attention should be paid to Chiari networks. Echocardiography can be used to identify the Chiari network. During the surgery, forcefully pulling out a stuck guidewire is not suggested, to avoid the risk of tearing the atrial wall and causing pericardial tamponade. An urgent consultation with ultrasound doctors and cardiac surgeons might be helpful in such cases.

The Surgical Strategy Cerebrospinal Fluid Decompression Facilitates Outcomes of Adults with Chiari Malformation Type I: An Observational, Real-World, Single-Center Study of 528 Patients.

OBJECTIVE: We designed this study to introduce the surgical strategy cerebrospinal fluid (CSF) decompression in treatment of Chiari malformation type I and compared CSF decompression with other surgical strategies to provide a solid basis for patient counseling. METHODS: The study enrolled 528 consecutive patients with CMI who underwent surgical interventions from 2012 to 2022. The surgical strategy for these patients was bony and dural decompression, anatomical reduction of herniated tonsils, or CSF decompression. Short-term results were determined after 3 months; long-term outcomes were evaluated at last follow-up (at least 18 months). RESULTS: CSF decompression was independently associated with better long- or short-term primary outcomes than anatomical reduction of herniated tonsils or bony and dural decompression (P < 0.001). Compared with short-term, the long-term outcomes were better in patients who underwent CSF decompression (P = 0.035), but were worse in patients with bony and dural decompression (P = 0.03). Specific surgical techniques cannot affect the long- and short-term outcomes of patients with Chiari malformation type I. CSF decompression provided better long-term syringomyelia improvement than short-term (181/218, 83% vs. 169/218, 77.5%; P < 0.001). CONCLUSIONS: CSF decompression, but not a specific surgical technique or operative method, was associated with favorable neurological outcomes in ADULT patients with Chiari malformation type I. The surgical technique and operative method should be selected according to the characteristics of each patient and the intraoperative condition to normalize CSF circulation at the craniovertebral junction area. The intraoperative target, smooth CSF flow out from the fourth ventricle and in to the bilateral Luschka foramina, could be observed.

Sleep-disordered breathing in children with Chiari type I malformation.

OBJECTIVE: The objective was to identify clinical and radiological factors associated with sleep-disordered breathing (SDB) in children with Chiari type I malformation (CIM) and to evaluate the efficacy of foramen magnum decompression (FMD) in resolving SDB. METHODS: A retrospective chart review was conducted for all children evaluated for CIM at a single institution from 2002 to 2022, identifying all children who had undergone nocturnal polysomnography (PSG). Apnea-hypopnea index (AHI) score, sleep apnea type (obstructive, central, mixed, and unspecified), clinical manifestations, and radiological measurements were recorded. SDB was considered present when officially diagnosed in the PSG report. Logistic regression was performed to identify factors correlating with the presence of SDB. For children with SDB who underwent FMD, the Wilcoxon signed-rank test was used to assess AHI improvement. RESULTS: Of the 997 children referred for CIM, 310 completed PSG. SDB was diagnosed in 147 patients (overall prevalence 14.7%, 95% CI 12.7%-17.1%; prevalence among children with PSG 47.4%, 95% CI 41.9%-53%). Specific SDB diagnosis consisted of 33% of patients with central sleep apnea, 27% with obstructive sleep apnea, 9% mixed, and 31% unspecified. Lower cranial nerve (CN) dysfunction (OR 3.891, p = 0.009), tonsillar position (OR 1.049, p = 0.017), Chiari type 1.5 malformation (OR 1.862, p = 0.044), and BMI (OR 1.039, p = 0.036) were significantly associated with presence of SDB. Of the 310 patients who underwent PSG, 47 were originally categorized as asymptomatic: 27 (57%) of these asymptomatic patients were diagnosed with SDB on PSG. Of children diagnosed with SDB, 34 completed PSG before and after FMD. Median AHI score decreased from 6.5 preoperatively to 1.8 postoperatively, with a median (IQR) difference of -2.3 (-11.9 to 0.1) (p = 0.001). Twelve (35%) had resolution of SDB. CONCLUSIONS: The authors' findings suggest that the prevalence of SDB in children with CIM is high (15%-47%). Furthermore, lower CN dysfunction, Chiari type 1.5, lower tonsillar position, and higher BMI may be risk factors. Notably, SDB can be present even in the absence of clinical symptoms. This study also demonstrates that surgical intervention has the potential to reduce the severity of SDB. These results could help clinicians identify CIM patients at risk for SDB and those who may benefit from surgical decompression.

Safety and Preliminary Efficacy of Cervical Paraspinal Interfascial Plane Block for Postoperative Pain after Pediatric Chiari Decompression.

BACKGROUND: Surgery for lesions of the posterior fossa is associated with significant postoperative pain in pediatric patients related to extensive manipulation of the suboccipital musculature and bone. In this study, we assess the preliminary safety, effect on neuromonitoring, and analgesic efficacy of applying a cervical paraspinal interfascial plane block in pediatric patients undergoing posterior fossa surgery. METHODS: In this prospective case series, we enrolled five patients aged 2-18 years undergoing surgery for symptomatic Chiari type I malformation. An ultrasound-guided cervical cervicis plane (CCeP) block was performed prior to the incision. A local anesthetic agent (bupivacaine) and a steroid adjuvant (dexamethasone) were injected into the fascial planes between the cervical semispinalis capitis and cervical semispinalis cervicis muscles at the level of the planned suboccipital decompression and C1 laminectomy. Motor-evoked and somatosensory-evoked potentials were monitored before and after the block. Patients were assessed for complications from the local injection in the intraoperative period and for pain in the postoperative period. RESULTS: No adverse events were noted intraoperatively, and there were no changes in neuromonitoring signals. Pain scores were low in the immediate postoperative period, and rescue medications were minimal. No complaints of incisional pain or need for narcotics were noted at the time of the 3-month postsurgical follow-up. CONCLUSIONS: In this study, we demonstrate the preliminary safety and analgesic efficacy of a novel application of a CCeP block to pediatric patients undergoing suboccipital surgery. Larger studies are needed to further validate the use of this block in children.

Budd Chiari Syndrome: Radiological Aspects of the Disease Pertaining to Infertility and Role of Interventional Radiology in Successful Conception.

Background/Aims: To study the association of infertility in patients with Budd Chiari syndrome, radiological aspects of the disease determining infertility and to see if there are improved chances of conception following radiological intervention. Methods: Retrospective search of the hospital records was done and patients with Budd Chiari syndrome, who underwent radiological intervention between January 2016 till October 2021 were initially included. Patients outside the reproductive age group, unmarried patients, patients who did not attempt conception or attempted for less than 1 year and patients having other causes of infertility were excluded. 90 patients were assessed for presence of primary or secondary infertility using infertility questionnaire. In patients with infertility, conception during 1-year follow-up period following radiological intervention, was assessed. Results: 146 patients underwent radiological intervention for Budd Chiari syndrome in the study period. 56 patients meeting the exclusion criteria were excluded from the study and subsequently 90 patients were assessed for infertility. 16.7% (15/90) of our patients with Budd Chiari syndrome had infertility, of which 7 were male, and 8 were female. Infertility is more common in younger age group (mean - 28.8 ± 4.2 years) (P < 0.001). In females, presence of pelvic venous congestion on preprocedural imaging showed significant association with infertility (P < 0.001). 6 (40%) out of 15 of patients with infertility conceived during a 1-year follow-up period after radiological intervention. Conclusion: Infertility is a common in patients with Budd Chiari syndrome, with a prevalence of 16.7%. Pelvic venous congestion is associated with women having infertility. Radiological interventions play important role in management of Budd Chiari and may help to overcome infertility in these patients.

Study on the Analysis of Gender Trends Among the First Authors of Publications on Budd-Chiari Syndrome.

INTRODUCTION: Budd-Chiari syndrome (BCS) is primarily a disease of hepatic vein blockage, which involves a backflow of blood to the liver. Although there have been many causes linked to this disease, most commonly, it occurs due to hypercoagulable states and blood disorders. In recent times, there has been a fast spread of knowledge regarding early diagnosis and various treatment modalities, which has enabled the prevention of mortality in most cases. This has primarily spread through research articles published in various journals. Thus, the article aims to compare the gender trend ratios to identify the associated discrepancies in terms of male and female author contributions who have been the primary authors for articles pertaining to this disease.  Methodology: A PubMed database between the years 2013 and 2022 was used for the bibliometric analysis. The gender of the primary author was analyzed by NamSor, an application programming interface (API). The statistical analysis was conducted using R software, the ARIMA model, and graphs were prepared using Datawrapper. RESULTS: Out of 667 articles extracted, the analysis showed that there were 455 (68.2%) first male authors and 212 (31.8%) first female authors. We also formulated various other results, which depicted a higher female-to-male author ratio including various journals and different countries. Although there has been an increasing trend of male authors as compared to female authors, this study found that male authorship for research on this disease is still higher. CONCLUSIONS: This study depicts that there is a necessity to draw attention to the inequitable systems favoring men over women for publications. The predictive analysis conducted also helps to foresee the trend in the next few years and explains the necessity of addressing the disparities among both genders in healthcare systems.

Combined Chiari Malformation Type I and Syringohydromyelia in a Patient With Intractable Headache.

Chiari malformations (CM) are a spectrum of hindbrain abnormalities involving the cerebellum, brainstem, skull base, and cervical cord. The most common is Chiari I malformation, in which the cerebellar tonsils descend through the foramen magnum. As opposed to types II-IV, which are congenital, type I can manifest in late childhood or adulthood with headaches and focal neurological symptoms. It can be caused by genetic variation, conditions that alter the basal skull or increase intracranial pressure, and even injury. Syringohydromyelia (SHM) is a neurological disorder characterized by longitudinal dilation of the central canal of the spinal cord with accumulated cerebrospinal fluid. This case report demonstrates a 35-year-old male with headaches, neck pain, back pain, and paresthesias who was found to have CM type-I malformation and syringohydromyelia.

A Transoral Approach to Decompression Odontoidectomy With Posterior Wiring and Fusion for Pediatric Platybasia With Chiari Malformation.

Basilar invagination in a Chiari malformation associated with osteogenesis imperfecta in the pediatric population is a rare entity. We report a case of a seven-year-old female who presented with sudden-onset bilateral spastic quadriplegia and evidence of a basilar invagination on MRI. She underwent emergency decompression of the impinging odontoid via transoral approach followed by posterior wiring and fusion of the C1 and C2 vertebrae. Imaging modalities such as dynamic CT and MRI play a major role in delineating any craniovertebral anomalies and neural impingement not easily identified in plain radiographs. Understanding the complex craniovertebral junction (CVJ) anatomy and the possible causes of such deformities is vital for ensuring proper diagnosis and management of these patients.

Transient Decrease in Cerebrospinal Fluid Motion Is Related to Cough-Associated Headache in Chiari I Malformation.

BACKGROUND: Short-lasting cough-associated headache (CAH) in patients with Chiari I malformation (CMI) is believed to be due to transient worsening of cerebrospinal flow (CSF) obstruction at the foramen magnum. We assessed changes in CSF flow in response to coughing in CMI patients with CAH and compared with those without CAH and healthy participants (HPs) using real-time magnetic resonance imaging. METHODS: Seventeen CMI patients (12 with CAH, 5 without CAH) and 6 HPs were prospectively assessed using real-time pencil-beam imaging magnetic resonance sequence. A 64-mm length pencil-beam imaging cylinder was placed at the craniocervical junction. CSF stroke volume (SVCSF) was assessed during resting, postcoughing, and relaxation phases via a 90-second scan. SVCSF was measured at 6 levels at 5-mm intervals between 10 and 35 mm below the foramen magnum. During each phase, SVCSF was compared between CMI with and without CAH and HPs and corrected for multiple comparisons. RESULTS: At multiple consecutive levels, postcoughing SVCSF was significantly lower in CMI with CAH compared with both CMI without CAH and HP (P < 0.05). No differences in postcoughing SVCSF were seen between CMI without CAH and HP. At rest or relaxation phase, no differences in SVCSF were seen between patients with and without CAH but minimal differences were seen between CMI with CAH and HP. CONCLUSIONS: A decrease in CSF flow after coughing in CMI patients with CAH supports the notion that CAH is caused by transient worsening of CSF flow obstruction at the foramen magnum.

Surgical Outcomes in Chiari 1 and Chiari 1.5 Malformation Treated by Posterior Fossa Reconstruction: A Comprehensive Analysis of 110 Pediatric Cases and Literature Review.

Background/Objectives: The management of Chiari malformations (CMs) remains a clinical challenge and a topic of great controversy. Results may vary between children and adults. The purpose of the current single-center study is to critically assess the one-year surgical outcomes of a cohort of 110 children with CM-1 or CM-1.5 who were treated using "posterior fossa reconstruction" (PFR), a surgical technique described in 1994 that has since been used in both adults and children. We also review the literature and discuss the possible causes of the drawbacks and pitfalls in children in whom PFR was ineffective in controlling the disease. Methods: The present cohort was selected from a prospective registry of adults and children with CMs collected since 2006. Patients included in this study were selected from a group of children with CMs who were operated on in our Pediatric Neurosurgical Unit between 1 January 2007 and 31 November 2023. Surgical outcome was defined based on clinical and neuroradiological results as very good, good, or bad. Results: The mean age of our child cohort was 9.9 ± 4.7 years, with 54 girls (49%) and 56 boys (51%). Sixty-six children had CM-1 (60%) while forty-four had CM-1.5 (40%). Following surgery, there was no neurological worsening or death among the children. Most children (70%) had an uneventful recovery and were discharged home on average one week after surgery. However, in 33 children (30%), we recorded at least one postoperative adverse event. Aseptic meningitis syndrome was the most frequent adverse event (n = 25, 22.7%). The final surgical outcome was evaluated one year after PFR by using both clinical and neuroradiological results. The one-year surgical outcome was excellent in 101 children (91.9%), good in 5 (4.5%), and bad in 4 (3.6%). Conclusions: PFR significantly enlarges the volume of the posterior fossa and recreates a CSF environment that generates buoyancy of the cerebellum, with a high percentage of excellent and good clinical results evaluated one year post-surgery.

Noonan syndrome and type 1 Chiari malformation: Possible association.

Noonan syndrome (NS) is mostly an autosomal dominant genetic disorder that affects between 1 in 1000 and 1 in 2500 people. Type 1 Chiari malformations (CM1) have an estimated prevalence of <1 in 1000 people. Though NS typically spares the posterior fossa, there have been 11 past instances of patients with NS having a concurrent CM1 that have been published in the literature. Each of these 11 cases occurred sporadically, in an isolated individual with no published family history of CM1. This case report presents a three generational family with four members having both NS and concurrent CM1. All affected family members share a pathogenic variant in PTPN11. A literature review was performed to identify and compile data regarding all past published cases of NS and CM1 occurring concurrently. Since 1982, a dozen case reports have detailed NS with concurrent CM1. Where molecular genetic data was presented, seven had a variant in PTPN11, and only one had a variant in another gene. The clustering of NS with CM1 within a single family that shares the same genotype, along with the exclusion of both NS and CM1 in other family members, may indicate that CM1 is a part of the NS phenotype.

Predicting the presence of 4th ventricular outlet obstruction in Chiari I Malformation.

INTRODUCTION: A subset of children with Chiari 1 malformation (CM-1) have a 4th ventricle arachnoid veil-a thin membrane covering the outlet of the 4th ventricle. Studies suggest that failure to disrupt this veil during posterior fossa decompression can reduce the likelihood of syringomyelia resolution. However, there is no reliable method for predicting the presence of the veil without direct surgical exploration. This study aims to evaluate the association between pre-operative symptoms, radiographic measurements, and the arachnoid veil. METHODS: A retrospective review of an institutional database of children evaluated for CM-I was conducted. For patients treated with surgery, operative notes were reviewed to determine if an arachnoid veil was present. Logistic regression was used to test for relationship of clinical variables and radiographic measurements with the presence of an arachnoid veil. RESULTS: Out of 997 children with CM-1, 226 surgical patients were included in the analysis after excluding those with inadequate documentation. An arachnoid veil was found in 23 patients (10.2%). Larger syrinx, spinal canal, and thecal sac diameters were significantly associated with the presence of a veil, with odds ratios of 1.23 (95% CI 1.2-1.48; p = 0.03), 1.27 (95% CI 1.02-1.59; p = 0.03), and 1.35 (95% CI 1.03-1.77; p = 0.03), respectively. No significant associations were found with any signs or symptoms. CONCLUSIONS: Arachnoid veil was present in 10% of cases. Radiographic measurements indicating larger syrinx size were the only variables found to be significantly associated with an arachnoid veil. Exploration of the 4th ventricular outlet is recommended for CM-I decompression in the setting of expansile syringomyelia.

Unveiling the domino effect: a nine-year follow-up on pentalogy of central nervous system induced by a large unruptured cerebral arteriovenous malformation: a case report and literature review.

Background: The disruption of intracranial fluid dynamics due to large unruptured cerebral arteriovenous malformation (AVM) commonly triggers a domino effect within the central nervous system. This phenomenon is frequently overlooked in prior clinic and may lead to catastrophic misdiagnoses. Our team has documented the world's first case of so-called AVM Pentalogy (AVMP) induced by a AVM. Clinical presentation and result: A 30-year-old female was first seen 9 years ago with an occasional fainting, at which time a huge unruptured AVM was discovered. Subsequently, due to progressive symptoms, she sought consultations from several prestigious neurosurgical departments in China, where all consulting neurosurgeons opted for conservation treatment due to perceived surgical risks. During the follow-up period, the patient gradually presented with hydrocephalus, empty sella, secondary Chiari malformation, syringomyelia, and scoliosis (we called as AVMP). When treated in our department, she already displayed numerous symptoms, including severe intracranial hypertension. Our team deduced that the hydrocephalus was the primary driver of her AVMP symptoms, representing the most favorable risk profile for intervention. As expected, a ventriculoperitoneal shunt successfully mitigated all symptoms of AVMP at 21-months post-surgical review. Conclusion: During the monitoring of unruptured AVM, it is crucial to remain vigilant for the development or progression of AVMP. When any component of AVMP is identified, thorough etiological studies and analysis of cascade reactions are imperative to avert misdiagnosis. When direct AVM intervention is not viable, strategically addressing hydrocephalus as part of the AVMP may serve as the critical therapeutic focus.