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Chiari Malformation Type I (CM1) is a neurological condition in which the cerebellar tonsils extend past the foramen magnum. While many studies have reported dizziness symptoms in patients with CM1, the prevalence of peripheral labyrinthine lesions is largely unknown. This study aimed to comprehensively describe the audiovestibular phenotype in a cohort of patients with CM1 expressly referred for dizziness. Twenty-four patients with CM1 and a complaint of dizziness/vertigo were evaluated. Hearing and auditory brainstem tract function were essentially normal. While vestibular abnormalities were most prevalent during rotational testing (33%), abnormal functional balance was the most common finding (40%). Patients with CM1 had a greater likelihood of exhibiting an abnormal sensory organization test (SOT) postural stability score for fixed platform conditions, and for the somatosensory analysis score. While no significant associations were identified between tonsillar ectopia extent and any vestibular/balance outcome measure, a significant negative association was identified between neck pain and the somatosensory sensory analysis score. Abnormal functional balance in the somatosensory domain was remarkable, with poorer scores associated with neck pain. An isolated peripheral vestibulopathy was present in only 8% of patients. Despite the low prevalence of vestibulopathy, vestibular/balance assessment is warranted to identify patients who may benefit from referral to specialized medical disciplines.

Background and purpose Although the cerebellar tonsils are parasagittal structures, the extent of tonsillar herniation (ETH) in Chiari I malformation (CMI) is currently measured in the midsagittal plane. We measured the ETH of each cerebellar tonsil in the parasagittal plane and assessed their diagnostic utility by comparing them to the midsagittal ETH measurements in predicting cough-associated headache (CAH), an indicator of clinically significant disease in CMI. Methods Eighty-five CMI patients with 3D-MPRAGE images were included. Neurosurgeons determined the presence of CAH. Sagittal images were used to measure ETH in the midsagittal (MS_ETH) and parasagittal planes (by locating tonsillar tips on each side on reformatted coronal images). Given the parasagittal ETH (PS_ETH) asymmetry in the majority of cases, they were considered Smaller_PS_ETH or Larger_PS_ETH. The accuracy of ETH measurements was assessed by the receiver operating characteristic (ROC) curve. Results Of 85 patients, 46 reported CAH. ROC analysis showed an area under the curve (AUC) of 0.78 for Smaller_PS_ETH significantly better than 0.65 for MS-ETH in predicting CAH ( p = 0.001). An AUC of 0.68 for Larger_PS_ETH was not significantly different from MS_ETH. The sensitivity and specificity of predicting CAH were 87% and 28% for MS_ETH >6 mm versus 90% and 46% for Smaller_PS_ETH >6 mm, and 52% and 67% for MS_ETH >9 mm versus 48% and 87% for Smaller_PS_ETH >9 mm. At ETH >15 mm, no differences were seen between the measurements. Conclusions Diagnostic utility of ETH measurements in detecting clinically significant CMI can be improved by parasagittal measurements of the cerebellar tonsillar herniation.

Chiari malformation Type I (CMI) is characterized by herniation of the cerebellar tonsils through the foramen magnum. The pathophysiology of CMI is not well elucidated; however, the prevailing theory focuses on the underdevelopment of the posterior cranial fossa which results in tonsillar herniation. Symptoms are believed to be due to the herniation causing resistance to the natural flow of cerebrospinal fluid (CSF) and exerting a mass effect on nearby neural tissue. However, asymptomatic cases vastly outnumber symptomatic ones and it is not known why some people become symptomatic. Recently, it has been proposed that CMI symptoms are primarily due to instability of either the atlanto-axial (AA) or the atlanto-occipital (AO) joint and the cerebellar tonsils herniate to prevent mechanical pinching. However, only a small percentage of patients exhibit clinical instability and these theories do not account for asymptomatic herniations. We propose that the pathophysiology of adult CMI involves a combination of craniocervical abnormalities which leads to tonsillar herniation and reduced compliance of the cervical spinal canal. Specifically, abnormal AO and/or AA joint morphology leads to chronic cervical instability, often subclinical, in a large portion of CMI patients. This in turn causes overwork of the suboccipital muscles as they try to compensate for the instability. Over time, the repeated, involuntary activation of these muscles leads to mechanical overload of the myodural bridge complex, altering the mechanical properties of the dura it merges with. As a result, the dura becomes stiffer, reducing the overall compliance of the cervical region. This lower compliance, combined with CSF resistance at the same level, leads to intracranial pressure peaks during the cardiac cycle (pulse pressure) that are amplified during activities such as coughing, sneezing, and physical exertion. This increase in pulse pressure reduces the compliance of the cervical subarachnoid space which increases the CSF wave speed in the spinal canal, and further increases pulse pressure in a feedback loop. Finally, the abnormal pressure environment induces greater neural tissue motion and strain, causing microstructural damage to the cerebellum, brainstem, and cervical spinal cord, and leading to symptoms. This hypothesis explains how the combination of craniocervical bony abnormalities, anatomic CSF restriction, and reduced compliance leads to symptoms in adult CMI.

Purpose. Incidental cerebellar tonsillar ectopia (ICTE) that meets the radiographic criterion for Chiari malformation type I (CMI) is an increasingly common finding in the clinical setting, but its significance is unclear. The present study examined posterior cranial fossa (PCF) morphometrics and a broad range of health instruments of pediatric ICTE cases and matched controls extracted from the Adolescent Brain Cognitive Development (ABCD) dataset. Methods. 106 subjects with ICTE and 106 matched controls without ICTE were identified from 11,411 anatomical MRI of healthy screened pediatric subjects from the ABCD project. Subjects were matched by sex, age, body mass index, race, and ethnicity. Twenty-two brain morphometrics and 22 health instruments were compared between the two groups to identify unrecognized CMI symptoms and assess the general health impact of ICTE. Results. Twelve and 15 measures were significantly different between the ICTE and control groups for females and males, respectively. Notably, for females, the anterior CSF space was significantly smaller (p = 0.00005) for the ICTE group than controls. For males, the clivus bone length was significantly shorter (p = 0.0002) for the ICTE group compared to controls. No significant differences were found among the 22 health instruments between the two groups. Conclusion. This study demonstrated that pediatric ICTE subjects have similar PCF morphometrics to adult CMI. ICTE alone did not appear to cause any unrecognized CMI symptoms and had no impact on the subjects' current mental, physical, or behavioral health. Still, given their cranial and brain morphology, these cases may be at risk for adult-onset symptomatic CMI.

This study was focused on a semi-automated morphometric analysis of the cerebellum in the mid-sagittal plane as an alternative to tonsillar descent alone in the evaluation of Chiari malformation type 1 (CMI) patients. Morphometric analyses of posterior fossa structures were performed on mid-sagittal MRI images of 375 individuals (females, > 18 years, 235 CMI and 140 healthy controls). Twenty-six parameters including linear, angular and area measurements together with non-dimensional ratios were calculated. Eighteen parameters were found to be significantly different between CMI and control subjects. Smaller posterior cranial fossa (PCF) area in CMI subjects was attributed to a smaller PCF area anterior to the brainstem. The cerebellar area was found to be larger in CMI subjects as compared to controls (15.1%), even without inclusion of the tonsillar area below the foramen magnum (FM) (8.4%). The larger cerebellar area in CMI subjects was due to cranial–caudal elongation of the cerebellum, predominately below the fastigium. The cerebrospinal fluid spaces below the FM were smaller in CMI subjects as compared to controls. Overall, greater cerebellar crowding was identified in CMI subjects relative to healthy controls. These observations may improve our understanding of the pathophysiology of CMI in adult female patients.

Cough-associated headaches (CAHs) are thought to be distinctive for Chiari malformation type I (CMI) patients and have been shown to be related to the motion of cerebrospinal fluid (CSF) near the foramen magnum (FM). We used computational fluid dynamics (CFD) to compute patient-specific resistance to CSF motion in the spinal canal for CMI patients to determine its accuracy in predicting CAH. Fifty-one symptomatic CMI patients with cerebellar tonsillar position (CTP) ≥ 5 mm were included in this study. The patients were divided into two groups based on their symptoms (CAH and non-CAH) by review of the neurosurgical records. CFD was utilized to simulate CSF motion, and the integrated longitudinal impedance (ILI) was calculated for all patients. A receiver operating characteristic (ROC) curve was evaluated for its accuracy in predicting CAH. The ILI for CMI patients with CAH (776 dyn/cm5, 288—1444 dyn/cm5; median, interquartile range) was significantly larger compared to non-CAH (285 dyn/cm5, 187–450 dyn/cm5; p = 0.001). The ILI was more accurate in predicting CAH in CMI patients than the CTP when the comparison was made using the area under the ROC curve (AUC) (0.77 and 0.70, for ILI and CTP, respectively). ILI ≥ 750 dyn/cm5 had a sensitivity of 50% and a specificity of 95% in predicting CAH. ILI is a parameter that is used to assess CSF blockage in the spinal canal and can predict patients with and without CAH with greater accuracy than CTP.