The Cause of Chiari II Malformation: A Unified Theory

McLone, David G.; Knepper, Paul A.

doi:10.1159/000120432

Cited by 483 publications

(260 citation statements)

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“…A failure to maintain this driving pressure in patients with open neural tube defects has been proposed as a mechanism for the genesis of the Chiari malformation. 37 …”

Section: Occlusion Of the Spinal Neurocelementioning

confidence: 99%

Embryology of myelomeningocele and anencephaly

Dias

Partington

2004

FOC

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The authors review current views on of the embryogenesis of the neural tube defects (NTDs) myelomeningocele and anencephaly. In this context, the following four approaches to the study of NTDs are discussed: normal morphogenesis and timing of early human neural development from conception to the ascent of the conus medullaris; mechanical and molecular biology of neural tube closure derived from experimental and animal models; morphological and biomechanical features of the NTDs myelomeningocele and anencephaly; and the experimental evidence for the importance of both genetic and environmental influences on human NTDs. Although considerable insight into both normal neural tube closure and the factor(s) by which this process may be disrupted has been reported in recent years, the exact mechanism(s) by which human myelomeningoceles and anencephaly arise remain elusive.

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“…A failure to maintain this driving pressure in patients with open neural tube defects has been proposed as a mechanism for the genesis of the Chiari malformation. 37 …”

Section: Occlusion Of the Spinal Neurocelementioning

confidence: 99%

Embryology of myelomeningocele and anencephaly

Dias

Partington

2004

FOC

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“…Boyles reported that the volume of the posterior fossa was "highly heritable" (7). Embryologically, the Chiari malformation has been described as a mesodermal deficiency (30) and as a neuroectodermal failure (4,26,27). Gripp, however, proposes that displacement of the cerebellar tonsils may be due to osseous and cartilaginous abnormalities instead of being the result of embryological disturbances (19).…”

Section: █ Discussionmentioning

confidence: 99%

Familial aggregation of chiari malformation: presentation, pedigree, and review of the literature

Nagy¹,

Mobley²,

Ray³

2014

Turkish Neurosurgery

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ABSTRACTprimary goals of the presentation of this family is to further illuminate the likely mode of genetic inheritance based on the large pedigree that is demonstrated below. █ CASE REpORTThis study is a case report of a patient's family of whom five individuals had a confirmed case of Chiari malformations and a total of eight were symptomatic (including the 5 confirmed). The incidence of Chiari malformations confirmed by CT scans occurred in two consecutive generations. The symptomatic individuals spanned three generations. The family of this child under our care also has a very large incidence of EhlersDanlos syndrome.Of the three daughters (III-7, III-8, and III-9) of the individual (II-3), all were radiographically confirmed cases of Chiari I Malformation (Figure 1). These patients lived in rural communities and thus were diagnosed with CT imaging instead of MRI, due to access and funding. However, in all of the patients the diagnosis was clear on the CT images, and was confirmed with MRI in some. Patient III-8 is the █ INTRODUCTION Chiari Malformation (CM) is typically considered to be the downward herniation of the cerebellar tonsils through the foramen magnum. The basic presentation of symptoms include occipital headaches, balance and coordination issues, and other associated cerebellar signs. This disease process affects both adult and pediatric patient populations, but symptoms vary by age. The presenting symptoms can be quite variable as well. Chiari malformations can be the result of a known etiology or can occur without any known causative factors. The Chiari that occurs from an unknown etiology is likely the result of a genetically determined small posterior fossa volume.There is a growing amount of data in the literature supporting a genetic basis for the Chiari malformation. However, familial aggregation in the literature is limited to twins, triplets, and a few cases of two consecutive generations being affected. While multiple projects are underway in the United States to identify a gene that can be specifically linked to the Chiari Malformation, none has yet elucidated the gene. One of the This article reports the largest familial aggregation of Chiari malformation in a single family to date as reported in the literature. This study is a retrospective case series of a family of whom five individuals have a confirmed case of Chiari malformation and three additional individuals have Chiari signs and symptoms. This contribution further supports the implication of genetics in the transmission of Chiari malformation. The family reported in this study also has a significant incidence of Ehlers-Danlos. Three sisters, including a set of twins, presented with confirmed cases of Chiari malformation and four of the five children of the twin sisters presented with confirmed or suspected Chiari malformation. Of note, the non-twin sister has three children who are unaffected. This report provides further evidence for a shared loci between the Chiari malformation and Ehlers-Danlos.

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“…The exact causal relationship between the Chiari II malformation and hydrocephalus has only recently begun to be well understood. [5][6][7] Recent data show a decrease in the rate of Chiari II malformation and subsequent hydrocephalus in patients in whom the spinal defect is repaired in utero. [8][9][10] However, this remains controversial.…”

Section: Pathogenesismentioning

confidence: 99%