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.

Brain imaging abnormalities in children with dysphagia with aspiration: A retrospective study.

OBJECTIVE: Head imaging is often performed in children with persistent dysphagia with aspiration to evaluate for Chiari malformations that may be associated with dysphagia. Unfortunately, the frequency of Chiari malformations or other head imaging abnormalities in children who aspirate is unknown. The goal of this study is to determine the frequency of head imaging abnormalities in children with evidence of aspiration or penetration on video fluoroscopic swallow study (VFSS). SETTING: Tertiary Children's Hospital. METHODS: We performed retrospective analysis of children with a diagnosis of aspiration evaluated at our center from January 2010 through April 2021. In this study, we included children with VFSS confirmed aspiration or penetration, brain magnetic resonance imaging (MRI) performed at our center, and without known genetic, congenital craniofacial, or neurologic abnormalities. RESULTS: Of the 977 patients evaluated in our system during that time with a diagnosis of aspiration, 185 children met the inclusion criteria. Eight children were diagnosed with Chiari malformations (4.3%) and 94 head MRIs were abnormal (51.4%). There was no difference in VFSS findings (frequency of aspiration, penetration, penetration-aspiration score, or recommended thickness of liquid) in children with a Chiari malformation versus other abnormalities or normal brain imaging. The majority of other non-Chiari brain imaging abnormalities were nonspecific. There was no difference in VFSS findings in children with abnormal MRI findings versus normal MRI. CONCLUSIONS: Brain imaging abnormalities are common in children who aspirate. Intervenable lesions are rare. Further studies are required to determine patients that will most likely benefit from brain imaging.

Evaluation and Treatment of Patients with Small Posterior Cranial Fossa and Chiari Malformation, Types 0 and 1.

The diagnosis of Chiari I malformation is straightforward in patients with typical signs and symptoms of Chiari I malformation and magnetic resonance imaging (MRI) confirming ≥5 mm of cerebellar tonsillar ectopia, with or without a syrinx. However, in many cases, Chiari I malformation is discovered incidentally on MRI to evaluate global headache, cervical radiculopathy, or other conditions. In those cases, the clinician must consider if cerebellar tonsillar ectopia is related to the presenting symptoms. Surgical decompression of the cerebellar tonsils and foramen magnum in patients with symptomatic Chiari I malformation effectively relieves suboccipital headache, reduces syrinx distension, and arrests syringomyelia progression. Neurosurgeons must avoid operative treatments decompressing incidental tonsillar ectopia, not causing symptoms. Such procedures unnecessarily place patients at risk of operative complications and tissue injuries related to surgical exploration. This chapter reviews the typical signs and symptoms of Chiari I malformation and its variant, Chiari 0 malformation, which has <5 mm of cerebellar tonsillar ectopia and is often associated with syringomyelia. Chiari I and Chiari 0 malformations are associated with incomplete occipital bone development, reduced volume and height of the posterior fossa, tonsillar ectopia, and compression of the neural elements and cerebrospinal fluid (CSF) pathways at the foramen magnum. Linear, angular, cross-sectional area, and volume measurements of the posterior fossa, craniocervical junction, and upper cervical spine identify morphometric abnormalities in Chiari I and Chiari 0 malformation patients. Chiari 0 patients respond like Chiari I patients to foramen magnum decompression and should not be excluded from surgical treatment because their tonsillar ectopia is <5 mm. The authors recommend the adoption of diagnostic criteria for Chiari 0 malformation without syringomyelia. This chapter provides updated information and guidance to the physicians managing Chiari I and Chiari 0 malformation patients and neuroscientists interested in Chiari malformations.

Retroflexed dens in paediatric Chiari 1 patients and implications: Single centre retrospective study.

INTRODUCTION: Chiari 1 malformation and hind brain hernia can be associated with skull base and craniocervical anomalies. One of the more recently associated anomalies is a retroverted or retroflexed odontoid process or dens. We conducted a retrospective study of our operated symptomatic and conservatively managed asymptomatic Chiari cohort to assess the impact of dens retroflexion on rate of revision or cerebrospinal fluid diversion following primary foramen magnum decompression (FMD). METHODS: We undertook a retrospective study of all foramen magnum decompression (FMD) cases for Chiari type 1 malformation performed over a 15-year period in a single tertiary paediatric neurosurgical unit. For comparison, non-operated asymptomatic Chiari cases were considered as reference cohort. Information gathered included: demographics, age, sex, length of cerebellar tonsils below McRae's line, pB-C2 distance (a line drawn perpendicular to one drawn between the basion and the posterior aspect of the C2 body), angle of retroflexion (angle formed between a line drawn through the odontoid synchondrosis and its intersection with a line drawn from the tip of the odontoid process) and angle of retroversion (angle formed between the line drawn from the base of C2 and its intersection with a line drawn from the tip of the odontoid process). Grade of retroflexion was measured using pre-operative mid-sagittal MR images and classified as grade 0 (> 90°), grade 1 (85°-89°); grade 2 (80°-84°) and grade 3 (< 80°). The rates for redo surgery or need for cerebrospinal fluid (CSF) diversion were obtained from clinical records and compared in the operated and non-operated groups. RESULTS: One hundred twenty-six Chiari 1 patients were included in this study with adequate imaging. Sixty-five patients were in the non-operated asymptomatic cohort with 61 patients in the operated symptomatic cohort. Mean age of non-operated cohort was 10.2 years with M:F ratio (30:35). Mean cerebellar tonsillar length below McRae's line was 10.3 mm. 7.7% of this cohort had associated syrinx. Mean angles of retroversion and retroflexion were 76 and 78°, respectively. Retroflexion grades included (9.2% grade 1, 35% grade 2 and 52.3% grade 3). pB-C2 distance was 6.8 mm. Mean age of operated cohort was 11.3 years, with M:F ratio (21:40). Mean cerebellar tonsillar length below McRae's line was 15 mm. 45.9% of this cohort had associated syrinx. Mean angles of retroversion and retroflexion were 73 and 74.5°, respectively. Retroflexion grades included (4.9% grade 1, 16.5% grade 2 and 78.6% grade 3). pB-C2 distance was 6.9 mm. No association was identified between retroflexion grade and rate of revision or CSF diversion following primary foramen magnum decompression. CONCLUSION: The operated Chiari 1 cohort had more retroflexed dens, longer tonsils and associated syrinx compared to the non-operated asymptomatic cohort.

Chiari type III malformation associated with Klippel-Feil syndrome, a case report with a narrative review of the literature.

BACKGROUND: Chiari malformation type III (CM III), a rare hindbrain anomaly, often presents with various concurrent anomalies. This paper reports a unique case of CM III associated with Klippel-Feil syndrome (KFS), a condition previously unreported in Saudi Arabia and documented in only one other case globally in Turkey. This study aims to share insights into the unusual association between CM III and KFS, considering their close embryological development and involvement in the craniocervical junction. METHODOLOGY: The study presents a case of a 2.5-year-old female diagnosed with CM III and KFS. Diagnostic tools such as ultrasound, CT scans, MRI, and physical examinations were used to confirm the patient's condition. Surgical interventions, including decompression and encephalocele repair, were performed. RESULTS: Successful surgical interventions, including encephalocele repair and duraplasty, were carried out. Follow-up visits indicated a stable condition, marked improvement in lower limb strength, and the patient's ability to walk with assistance. CT follow-up affirmed a satisfactory surgical outcome. CONCLUSION: This case study illustrates the potential for an optimistic prognosis in CM III, even when accompanied by complex conditions such as KFS, through early diagnosis and intervention. It underscores the significance of antenatal screening for effective care planning and calls for further research and publications due to the rarity of this association. These findings contribute to our understanding of CM III and its related conditions, emphasizing the need for open-minded consideration of potential embryological associations.

Neurological outcome following delayed traction and fixation in severe tetraparesis consecutive to posterior decompression for Chiari malformation: a case report.

BACKGROUND: Chiari malformation type 1 (CM1) is a congenital hindbrain malformation characterized by herniation of the cerebellar tonsils below the foramen magnum. The term Chiari type 1.5 is used when herniation of the brainstem under the McRae line and anomalies of the craniovertebral junction are also present. These conditions are associated with several symptoms and signs, including headache, neck pain, and spinal cord syndrome. For symptomatic patients, surgical decompression is recommended. When radiographic indicators of craniovertebral junction (CVJ) instability or symptoms related to ventral brainstem compression are present, CVJ fixation should also be considered. CASE DESCRIPTION: We report the case of a 13-year-old girl who presented with severe tetraparesis after posterior decompression for Chiari malformation type 1.5, followed 5 days later by partial C2 laminectomy. Several months after the initial surgery, she underwent two fixations, first without and then with intraoperative cervical traction, leading to significant neurological improvement. DISCUSSION AND CONCLUSION: This case report underscores the importance of meticulous radiological analysis before CM surgery. For CM 1.5 patients with basilar invagination, CVJ fixation is recommended, and C2 laminectomy should be avoided. In the event of significant clinical deterioration due to nonadherence to these guidelines, our findings highlight the importance of traction with increased extension before fixation, even years after initial destabilizing surgery.

Clinical presentation and outcomes of neonates born with neural tube defects- an experience from a level III B NICU in Western India.

PURPOSE: Neural tube defects (NTDs) are one of the most common congenital anomalies and a cause of chronic disability. The study was done to study outcomes of neural tube defects admitted at a tertiary level neonatal intensive care unit (NICU) from 2018 to 2022, a period of 4 years that also coincided with the COVID pandemic. The secondary outcome was to study the clinical presentation, associated anomalies and epidemiological features. METHODS: It was a retrospective observational study; data of infants was obtained from medical records and analysis was done. RESULTS: Thirty-four neonates were enrolled, of which there were 16 (47%) males and 18 (53%) females. History of pre-pregnancy maternal folate intake was present in 4 (11.7%) cases. 33 (97%) babies were diagnosed with meningomyelocele (MMC) and one each had anencephaly, iniencephaly and encephalocele, of which one had frontal and two had occipital encephalocele. The median age of surgery was 16 days of life with primary repair being the most common procedure followed by MMC repair with VP shunt. Twenty babies (58.8%) were discharged successfully, while 9 (26.5%) expired and 5 (14.7%) were discharged against medical advice; which can be attributed to the financial problems of the patients in a developing country. The overall deaths in our series were four (26.5%) which is slightly higher than other studies which may be due to the fact that this study was conducted during the COVID era with lesser rates of folate supplementation, reduced access to prenatal diagnosis coupled with poor follow-up and compliance of patients post-surgical repair. CONCLUSION: This study emphasizes the importance of periconceptional folic acid supplementation, prenatal diagnosis, early surgery and meticulous follow-up as being pivotal to improving outcomes in children with NTDs.

Volumetric segmentation in the context of posterior fossa-related pathologies: a systematic review.

BACKGROUND: Segmentation tools continue to advance, evolving from manual contouring to deep learning. Researchers have utilized segmentation to study a myriad of posterior fossa-related conditions, such as Chiari malformation, trigeminal neuralgia, post-operative pediatric cerebellar mutism syndrome, and Crouzon syndrome. Herein, we present a summary of the current literature on segmentation of the posterior fossa. The review highlights the various segmentation techniques, and their respective strengths and weaknesses, employed along with objectives and outcomes of the various studies reported in the literature. METHODS: A literature search was conducted in PubMed, Embase, Cochrane, and Web of Science up to November 2023 for articles on segmentation techniques of posterior fossa. The two senior authors searched through databases based on the keywords of the article separately and then enrolled joint articles that met the inclusion and exclusion criteria. RESULTS: The initial search identified 2205 articles. After applying inclusion and exclusion criteria, 77 articles were selected for full-text review after screening of titles/abstracts. 52 articles were ultimately included in the review. Segmentation techniques included manual, semi-automated, and fully automated (atlas-based, convolutional neural networks). The most common pathology investigated was Chiari malformation. CONCLUSIONS: Various forms of segmentation techniques have been used to assess posterior fossa volumes/pathologies and each has its advantages and disadvantages. We discuss these nuances and summarize the current state of literature in the context of posterior fossa-associated pathologies.

A comparative analysis of neuroendoscopic foramen magnum decompression versus traditional open surgery for Chiari Malformation Type I.

PURPOSE: Chiari Malformation Type I (CM1) is characterized by the downward displacement of the cerebellar tonsils below the foramen magnum. The standard surgical treatment for CM1 is foramen magnum decompression and atlas laminectomy (FMD-AL). However, there is a growing interest in exploring minimally invasive techniques, such as neuroendoscopically assisted FMD-AL, to optimize surgical outcomes. The aim is to present the results of the less invasive neuroendoscopic-assisted system application as an alternative to decompression surgery in patients with CM-1 with/without syringomyelia. PATIENTS AND METHODS: A retrospective analysis was conducted on 76 patients with CMI who underwent either neuroendoscopic-assisted FMD-AL (n = 23) or open surgery (n = 53). Preoperative and postoperative assessments were performed, including pain levels, functional assessment, outcome and serum creatinine kinase (CK) levels. Surgical parameters and radiological imaging were also evaluated and compared. RESULTS: Both surgical groups showed improvements in pain levels and increase in postoperative CK levels. There were no statistically significant differences between the groups in terms of postoperative JOA scores, VAS scores, CCOS, or syrinx resolution. However, the neuroendoscopic group had significantly lower CK levels, shorter hospital stays, less blood loss, and shorter operation times compared to the open surgery group, indicating reduced muscle damage and potential benefits of the neuroendoscopic assisted approach. CONCLUSION: Both neuroendoscopy and open surgery groups can effectively alleviate symptoms and improve outcomes in patients with CM1. The neuroendoscopic assisted technique offers the advantage of reduced muscle damage and shorter hospital stays. The choice of surgical technique should be based on individual patient characteristics and preferences. LEVEL OF EVIDENCE: 3 (Retrospective case-control study) according to using the Oxford Centre for Evidence-Based Medicine (CEBM) Table.

Preoperative estimation of intracranial compliance in symptomatic children with Chiari malformation type 1: impact on outcome and risk of complications.

BACKGROUND: The role of reduced intracranial compliance (ICC) in the outcome after foramen magnum decompression (FMD) was demonstrated in adults with Chiari malformation Type 1 (CMI). However, similar observations from children treated for CMI are missing. METHODS: We reviewed pediatric cases of CMI referred to FMD between 2006 and 2022. Children with clinical and/or radiological signs suggesting reduced ICC (Group A) underwent overnight measurements of the pulsatile intracranial pressure (ICP): mean ICP wave amplitude (MWA) served as a surrogate marker of ICC. Children with more typical symptoms of CMI (Group B) underwent FMD without preoperative ICC estimation. This study presents the clinical, radiological, and outcome differences between these groups. RESULTS: Sixty-four children (mean age 11.1 ± 4.3 years) underwent FMD: In Group A (n = 30), the finding of reduced ICC as estimated from preoperative ICP measurement resulted in CSF diversion (ventriculoperitoneal shunt) before FMD in 11 children. Two patients required shunt due to complications after FMD (total shunt rate 43%). In Group B (n = 34) treated with FMD without preoperative ICC estimation, five children (15%) required shunting due to complications. In Group A, we found a significantly higher frequency of headache, nausea, fatigue, and dizziness. The outcome assessed by the modified Chicago Chiari Outcome Scale (mean follow-up 83 ± 57 months) was comparable between the groups, but the complication rate after FMD was significantly lower in Group A (7% vs. 32%; p = 0.011). The number of procedures (ICP measurement, FMD, shunt, re-do FMD, shunt revisions) was significantly higher in Group A (2.6 ± 0.9 vs. 1.5 ± 1.1 per patient; p < 0.001). CONCLUSION: In symptomatic children with CMI, the preoperative estimation of ICC from the overnight measurement of pulsatile ICP was more reliable for identifying those with reduced ICC than clinical and radiological assessment alone. When children with abnormally reduced ICC were identified and treated with CSF diversion before FMD, the complication rate was significantly reduced.

Long-term outcome of operated Chiari I patients between 2005 and 2020 in Eastern Finland.

PURPOSE: The purpose of our study was to examine the long-term outcomes of operated Chiari malformation type 1 (CM1) patients and evaluate whether different duraplasty techniques affected outcome after surgery in Kuopio University Hospital catchment area. METHODS: In this retrospective study, a total of 93 patients were diagnosed with CM1 and underwent posterior fossa decompression surgery with or without duraplasty between 2005 and 2020. All patients' medical records were examined for baseline characteristics, surgical details, and long-term follow-up data after operation. RESULTS: The mean age of CM1 patients was 25.9 years (SD 19.2 years), with female preponderance 69/93 (73.4%). The mean clinical follow-up time was 26.5 months (SD 33.5 months). The most common presenting symptoms were headache, symptoms of extremities, and paresthesia. Posterior fossa decompression with duraplasty was performed in 87 (93.5%) patients and bony decompression in 6 (6.5%) patients. After surgery, preoperative symptoms alleviated in 84.9% (79/93) and the postoperative syringomyelia regression rate was 89.2% (33/37) of all patients. The postoperative complication rate was 34.4% (32/93), with aseptic meningitis being the most common, 25.8% (24/93). Revision surgery was required in 14% (13/93) of patients. No significant correlation between postoperative outcome and extent of dural decompression, or type of duraplasty performed was found. CONCLUSION: This is the largest reported series of surgically treated CM1 patients in Finland. Posterior fossa decompression is an effective procedure for CM1 symptomology. Duraplasty technique had no significant difference in complication rate or long-term outcomes.

Duraplasty using a combination of a pedicled dural flap and collagen matrix in posterior fossa decompression for pediatric Chiari malformation type 1 with syrinx.

PURPOSE: In posterior fossa decompression for pediatric Chiari malformation type 1 (CM-1), duraplasty methods using various dural substitutes have been reported to improve surgical outcomes and minimize postoperative complications. To obtain sufficient posterior fossa decompression without cerebrospinal fluid-related complications, we developed a novel duraplasty technique using a combination of a pedicled dural flap and collagen matrix. The objective of this study was to describe the operative nuances of duraplasty using a combination of a pedicled dural flap and collagen matrix in posterior fossa decompression for pediatric CM-1. METHODS: We reviewed the clinical and radiographic records of 11 consecutive pediatric patients who underwent posterior fossa decompression with duraplasty using a combination of a pedicled dural flap and collagen matrix followed by expansile cranioplasty for CM-1. The largest area of the syrinx and the size of the posterior fossa were calculated. RESULTS: The maximum syrinx area was reduced by a mean of 68.5% ± 27.3% from preoperatively to postoperatively. Four patients (36.4%) had near-complete syrinx resolution (> 90%, grade III reduction), five (45.5%) had 50% to 90% reduction (grade II), and two (18.2%) had < 50% reduction (grade I). The posterior fossa area in the midsagittal section increased by 8.9% from preoperatively to postoperatively. There were no postoperative complications, including cerebrospinal fluid leakage, pseudomeningocele formation, or infection. CONCLUSION: Duraplasty using a combination of a pedicled dural flap and collagen matrix in posterior fossa decompression is a promising safe and effective surgical technique for pediatric CM-1 with syrinx.

Surgical anatomy of the cerebellar tonsils: A cadaveric study.

BACKGROUND: Knowledge of the normal anatomy of the cerebellar tonsils is a prerequisite in various surgeries of the posterior cranial fossa Clinical conditions, as the Chiari I malformations (CIM) alter the normal position of the cerebellar tonsils. OBJECTIVE: Therefore, we aim to better elucidate the surgical anatomy of and around the cerebellar tonsils in regard to the CIM. METHODS: Fifty formalin-fixed adult cadavers injected with colored latex through vertebral arteries underwent craniotomy and durotomy to expose the cerebellar tonsils and related structures. The tonsils and their surrounding anatomy were then studied. RESULTS: Forty cerebellar tonsils were at or above the foramen magnum. Five specimens presented with CIM with the tonsils below (3-5 mm) the FM with a mean tonsillar decent of 7.9 ± 2.3 mm. Of the cadavers without CIM, in forty-two cases, the thickness of the dura mater was within ±3SD ranges. In three cases, the dura mater was thinner at the CVJ and one case; the dura adhered tightly to the inner aspect of the occipital squama. In five CIM cadavers, the dura mater was markedly thicker at the CVJ. The PICA caudal loop was 5.9 ± 1.6 mm long. In CIM cases, the PICA loop was longer, nearer the dura, 1 mm below the superior border of the C1 posterior arch. The distances from the PICA loop were markedly reduced by 3 mm from the spinal accessory nerve and 2 mm from the first spinal nerve. The DN was significantly closer to the tonsillar peduncle in CIM cases. CONCLUSION: These data are important for better understanding the intrinsic and extrinsic anatomy of the cerebellar tonsils in patients with and without CIM. Importantly, tonsillectomy/tonsillar coagulation must consider the close relationship of the dentate nucleus to the base of the cerebellar tonsil to avoid iatrogenic injury.

Mosaic variegated aneuploidy syndrome 2 with biallelic novel CEP57 splice site variation in Indian siblings: Expanding the clinical and molecular spectrum.

Mosaic variegated aneuploidy syndrome 2 (MVA2) (MIM# 614114) is a rare autosomal recessive condition caused by biallelic loss of function variants in the CEP57 gene. MVA2 is characterized by a variable phenotype ranging from poor growth to facial dysmorphism, short stature and congenital heart defects. Only 11 families and 5 pathogenic variants of MVA2 have been described so far. Intragenic duplication of 11 nucleotides (c.915_925dup11) in homozygous or compound heterozygous state is the commonest genetic aberration (10/13). We describe the first Indian family with two siblings with a novel homozygous splice site variant (c.382+2T>C) in CEP57. Molecular characterization demonstrated skipping of exon 3 due to the variant with protein modeling predicting subsequent complete loss of function. This is the first report of a splice site variation in CEP57 leading to MVA2.

Cognition in Chiari Malformation Type I: an Update of a Systematic Review.

Chiari malformation has been classified as a group of posterior cranial fossa disorders characterized by hindbrain herniation. Chiari malformation type I (CM-I) is the most common subtype, ranging from asymptomatic patients to those with severe disorders. Research about clinical manifestations or medical treatments is still growing, but cognitive functioning has been less explored. The aim of this systematic review is to update the literature search about cognitive deficits in CM-I patients. A literature search was performed through the following electronic databases: MEDLINE, PsychINFO, Pubmed, Cochrane Library, Scopus, and Web of Science. The date last searched was February 1, 2023. The inclusion criteria were as follows: (a) include pediatric or adult participants with a CM-I diagnosis, (b) include cognitive or neuropsychological assessment with standardized tests, (c) be published in English or Spanish, and (d) be empirical studies. Articles that did not report empirical data, textbooks and conference abstracts were excluded. After the screening, twenty-eight articles were included in this systematic review. From those, twenty-one articles were focused on adult samples and seven included pediatric patients. There is a great heterogeneity in the recruited samples, followed methodology and administered neurocognitive protocols. Cognitive functioning appears to be affected in CM-I patients, at least some aspects of attention, executive functions, visuospatial abilities, episodic memory, or processing speed. However, these results require careful interpretation due to the methodological limitations of the studies. Although it is difficult to draw a clear profile of cognitive deficits related to CM-I, the literature suggests that cognitive dysfunction may be a symptom of CM-I. This suggest that clinicians should include cognitive assessment in their diagnostic procedures used for CM-I. In summary, further research is needed to determine a well-defined cognitive profile related to CM-I, favoring a multidisciplinary approach of this disorder.

Effects of Two Exercise Regimes on Patients with Chiari Malformation Type 1: a Randomized Controlled Trial.

This study aims to measure the effects of two different exercise programs on neck pain, proprioception, balance, coordination, posture, and quality of life in patients with Chiari malformation (CM) type 1. Sixteen patients were randomized to two different exercise programs: a tailored exercise protocol for CM (TEP-CM) and cervical spinal stabilization exercises (CSSE). Both exercise programs were implemented by a physiotherapist 3 days a week for 6 weeks. The primary outcome was Neck Disability Index. Secondary outcomes were visual analogue scale for pain, joint position sense error measurement, Berg Balance Scale, Time Up and Go Test, International Coordination Ataxia Rating Scale, PostureScreen Mobile, and Short Form-36. Assessments were done immediately before and after the intervention programs. Both groups showed significant improvement in Neck Disability Index, and some secondary outcome measures (P < 0.05). However, there were no statistical differences in post-intervention changes between the groups (P > 0.05). This is the first study to examine the effects of different exercise programs on symptoms in patients with CM type 1. Our preliminary findings indicate that exercise programs can improve pain, balance, proprioception, posture, coordination, and quality of life in CM type 1. Therefore, exercise should be considered safe, beneficial, and low-cost treatment option for CM type 1 patients without surgical indications.

Relationship of Morphometrics and Symptom Severity in Female Type I Chiari Malformation Patients with Biological Resilience.

In the present study we report the relationship among MRI-based skull and cervical spine morphometric measures as well as symptom severity (disability-as measured by Oswestry Head and Neck Pain Scale and social isolation-as measured by the UCLA Loneliness scale) on biomarkers of allostatic load using estrogen, interleukin-6, C-reactive protein, and cortisol in a sample of 46 CMI patients. Correlational analyses showed that McRae line length was negatively associated with interleukin-6 and C-reactive protein levels, and Analysis of Variance (ANOVA) showed joint effects of morphometric measures (McRae line length, anterior CSF space) and symptom severity (disability and loneliness) on estrogen and intereukin-6 levels. These results are consistent with allostatic load. That is, when the combination of CSF crowding and self-report symptom (disability and loneliness) severity exceed the capacity of biological resilience factors, then biomarkers such as neuroprotective estrogen levels drop, rather than rise, with increasing symptom severity.

Prevalence and treatment of typical and atypical headaches in patients with Chiari I malformation: A meta-analysis and literature review.

OBJECTIVE: A meta-analysis was conducted to analyze the incidence of typical and atypical headaches and outcomes following various treatments in patients with Chiari I malformation. BACKGROUND: Headache is the most common symptom of Chiari malformation, which can be divided into typical and atypical subgroups to facilitate management. Much controversy surrounds the etiology, prevalence and optimal therapeutic approach for both types of headaches. METHOD: We identified relevant studies published before 30 July 2022, with an electronic search of numerous literature databases. The results of this study were reported according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement. RESULT: A total of 1913 Chiari malformation type I CIM patients were identified, 78% of whom presented with headache, within this group cephalgia was typical in 48% and atypical in 29% of patients, and migraine was the most common type of atypical headache. The ratio of typical/atypical headaches with international classification of headache disorders diagnosis was 1.53, and without international classification of headache disorders diagnosis was 1.56, respectively. The pooled improvement rates of typical headaches following conservative treatment, extradural decompression and intradural decompression were 69%, 88%, and 92%, respectively. The corresponding improvement rates for atypical headaches were 70%, 57.47%, and 69%, respectively. The complication rate in extradural decompression group was significantly lower than in intradural decompression group (RR, 0.31; 95% CI: 0.06-1.59, I2 = 50%, P = 0.14). Low reoperation rates were observed for refractory headaches in extradural decompression and intradural decompression groups (1%). CONCLUSION: The International Classification of Headache Disorders can assist in screening atypical headaches. extradural decompression is preferred for typical headaches, while conservative therapy is optimal for atypical headaches. A definite correlation exists between atypical headaches and Chiari Malformation Type I patients with higher prevalence than in the general population. Importantly, decompression is effective in relieving headaches in this particular patient population.

Association between resistance to cerebrospinal fluid flow and cardiac-induced brain tissue motion for Chiari malformation type I.

PURPOSE: Chiari malformation type I (CMI) patients have been independently shown to have both increased resistance to cerebrospinal fluid (CSF) flow in the cervical spinal canal and greater cardiac-induced neural tissue motion compared to healthy controls. The goal of this paper is to determine if a relationship exists between CSF flow resistance and brain tissue motion in CMI subjects. METHODS: Computational fluid dynamics (CFD) techniques were employed to compute integrated longitudinal impedance (ILI) as a measure of unsteady resistance to CSF flow in the cervical spinal canal in thirty-two CMI subjects and eighteen healthy controls. Neural tissue motion during the cardiac cycle was assessed using displacement encoding with stimulated echoes (DENSE) magnetic resonance imaging (MRI) technique. RESULTS: The results demonstrate a positive correlation between resistance to CSF flow and the maximum displacement of the cerebellum for CMI subjects (r = 0.75, p = 6.77 × 10-10) but not for healthy controls. No correlation was found between CSF flow resistance and maximum displacement in the brainstem for CMI or healthy subjects. The magnitude of resistance to CSF flow and maximum cardiac-induced brain tissue motion were not statistically different for CMI subjects with and without the presence of five CMI symptoms: imbalance, vertigo, swallowing difficulties, nausea or vomiting, and hoarseness. CONCLUSION: This study establishes a relationship between CSF flow resistance in the cervical spinal canal and cardiac-induced brain tissue motion in the cerebellum for CMI subjects. Further research is necessary to understand the importance of resistance and brain tissue motion in the symptomatology of CMI.

Neurological pathologies in acute acquired comitant esotropia.

BACKGROUND: Acute acquired comitant esotropia (AACE) is an uncommon subtype of esotropia characterized by sudden and usually late onset of a relatively large angle of comitant esotropia with diplopia in older children and adults. METHODS: A literature survey regarding neurological pathologies in AACE was conducted using databases (PubMed, MEDLINE, EMBASE, BioMed Central, the Cochrane Library, and Web of Science) in order to collect data for a narrative review of published reports and available literature. RESULTS: The results of the literature survey were analyzed to provide an overview of the current knowledge of neurological pathologies in AACE. The results revealed that AACE with unclear etiologies can occur in many cases in both children and adults. Functional etiological factors for AACE were found to be due to many reasons, such as functional accommodative spasm, the excessive near work use of mobile phones/smartphones, and other digital screens. In addition, AACE was found to be associated with neurological disorders, such as astrocytoma of the corpus callosum, medulloblastoma, tumors of the brain stem or cerebellum, Arnold-Chiari malformation, cerebellar astrocytoma, Chiari 1 malformation, idiopathic intracranial hypertension, pontine glioma, cerebellar ataxia, thalamic lesions, myasthenia gravis, certain types of seizures, and hydrocephalus. CONCLUSIONS: Previously reported cases of AACE with unknown etiologies have been reported in both children and adults. However, AACE can be associated with neurological disorders that require neuroimaging probes. The author recommends that clinicians should perform comprehensive neurological assessments to rule out neurological pathologies in AACE, especially in the presence of nystagmus or abnormal ocular and neurological indications (e.g., headache, cerebellar imbalance, weakness, nystagmus, papilloedema, clumsiness, and poor motor coordination).