Pathogenesis and Cerebrospinal Fluid Hydrodynamics of the Chiari I Malformation

Buell, Thomas J.; Heiss, John D.; Oldfield, Edward H.

doi:10.1016/j.nec.2015.06.003

Cited by 58 publications

(36 citation statements)

References 21 publications

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“…2 CMI has been attributed to the internal volume of the posterior fossa being too small to contain its neural contents, producing downward displacement of the cerebellar tonsils, which may obstruct CSF flow and cause syringomyelia. [3][4][5] CMI is sometimes associated with syndromes that impair normal bone development, e.g., achondroplasia. 3,[6][7][8][9] We previously identified CMI and occult spinal dysraphism in 2 patients with EPAS1 gain-of-function syndrome.…”

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confidence: 99%

Neuraxial dysraphism in EPAS1- associated syndrome due to improper mesenchymal transition

et al. 2020

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ObjectiveTo investigate the effect of somatic, postzygotic, gain-of-function mutation of Endothelial Per-Arnt-Sim (PAS) domain protein 1 (EPAS1) encoding hypoxia-inducible factor-2α (HIF-2α) on posterior fossa development and spinal dysraphism in EPAS1 gain-of-function syndrome, which consists of multiple paragangliomas, somatostatinoma, and polycythemia.MethodsPatients referred to our institution for evaluation of new, recurrent, and/or metastatic paragangliomas/pheochromocytoma were confirmed for EPAS1 gain-of-function syndrome by identification of the EPAS1 gain-of-function mutation in resected tumors and/or circulating leukocytes. The posterior fossa, its contents, and the spine were evaluated retrospectively on available MRI and CT images of the head and neck performed for tumor staging and restaging. The transgenic mouse model underwent Microfil vascular perfusion and subsequent intact ex vivo 14T MRI and micro-CT as well as gross dissection, histology, and immunohistochemistry to assess the role of EPAS1 in identified malformations.ResultsAll 8 patients with EPAS1 gain-of-function syndrome demonstrated incidental posterior fossa malformations—one Dandy-Walker variant and 7 Chiari malformations without syringomyelia. These findings were not associated with a small posterior fossa; rather, the posterior fossa volume exceeded that of its neural contents. Seven of 8 patients demonstrated spinal dysraphism; 4 of 8 demonstrated abnormal vertebral segmentation. The mouse model similarly demonstrated features of neuraxial dysraphism, including cervical myelomeningocele and spinal dysraphism, and cerebellar tonsil displacement through the foramen magnum. Histology and immunohistochemistry demonstrated incomplete mesenchymal transition in the mutant but not the control mouse.ConclusionsThis study characterized posterior fossa and spinal malformations seen in EPAS1 gain-of-function syndrome and suggests that gain-of-function mutation in HIF-2α results in improper mesenchymal transition.

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Neuraxial dysraphism in EPAS1- associated syndrome due to improper mesenchymal transition

et al. 2020

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“…28,36,37 As discussed earlier, a small posterior fossa may be caused by an abnormal development of the occipital bone and skull base. 29,38 Tonsillar herniation may also result from calvarial thickening in skeletal dysplasias or premature closure of multiple cranial sutures in craniosynostosis such as Crouzon syndrome Fig. 3 Chiari type 1 deformity in a 6-year-old boy with Klippel-Feil deformity.…”

Section: Overcrowding Caused By a Small Skull And/or Posterior Fossamentioning

confidence: 99%

Chiari Type 1 Deformity in Children: Pathogenetic, Clinical, Neuroimaging, and Management Aspects

et al. 2016

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Our understanding of cerebellar tonsillar herniation evolved over time and nowadays various pathomechanisms have been proposed. Causes of tonsillar herniation share a discrepancy between content (fore- and hindbrain) and container (supratentorial cranial vault, posterior fossa), may be associated with abnormalities of the craniocervical junction, and may have a developmental or acquired nature. In tonsillar herniation, the hindbrain is not malformed but deformed. Accordingly, "Chiari type 1 deformity," not "Chiari type 1 malformation" is the correct term to characterize primary tonsillar herniation. Chiari type 1 deformity is commonly seen in pediatric neurology, neuroradiology, and neurosurgery and may have various clinical presentations depending on patient age. In addition, Chiari type 1 deformity is increasingly found by neuroimaging studies as an incidental finding in asymptomatic children. An accurate and reliable selection of patients based on clinical and neuroimaging findings is paramount for the success of neurosurgical treatment. Future studies are needed to provide selection criteria with a higher sensitivity and specificity.

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“…Patients with history of head trauma, labyrinthitis and central nervous system related dizziness have the largest recurrence rates inspite of canalolith repositioning manuoevres. 4 According to a recent study in 2015 5 , the pathophysiology of type 1 Chiari malformation is simply the obstruction of the normal pulsatile movement of CSF across the foramen magnum. Chiari type 1 malformations present late in adult life.…”

Section: Discussionmentioning

confidence: 99%

Chiari type 1 malformation presenting as an atypical benign paroxysmal positional vertigo in a 16 year old patient

Kelkar

Yates

2017

Int J Otorhinolaryngol Head Neck Surg

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<p>Dizziness and vertigo are very common symptoms and can be difficult to distinguish clinically. Vertigo is a specific subtype of dizziness in which a patient experiences the illusion of motion (often rotatory) of either themselves or their surroundings. Vertigo can be either peripheral (arising within the labyrinth) or central (brain). It is important to identify central aetiologies as they can be fatal if missed. This case report narrates a 16-year-old male who presented complaining of vertigo related to changes in head position which was initially misdiagnosed as a benign paroxysmal positional vertigo (BPPV). It was several years before he was correctly diagnosed as having Chiari type 1 malformation on MRI scan. He underwent a surgical decompression with complete alleviation of his symptoms. All cases of atypical vertigo should be evaluated in detail. Patients with failure of initial management should undergo imaging to identify any central pathology. </p>

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Pathogenesis and Cerebrospinal Fluid Hydrodynamics of the Chiari I Malformation

Cited by 58 publications

References 21 publications

Neuraxial dysraphism in EPAS1- associated syndrome due to improper mesenchymal transition

Neuraxial dysraphism in EPAS1- associated syndrome due to improper mesenchymal transition

Chiari Type 1 Deformity in Children: Pathogenetic, Clinical, Neuroimaging, and Management Aspects

Chiari type 1 malformation presenting as an atypical benign paroxysmal positional vertigo in a 16 year old patient

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