Possible Factors in the Development of the Arnold-Chiari Malformation

Berndt, Alexander; Patten, Bradley M.; Stewart, Bruce H.

doi:10.3171/jns.1957.14.3.0285

Cited by 143 publications

(62 citation statements)

References 13 publications

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“…The hydrodynamic theory [17][18][19][20][21], traction theory [22,23], dysgenesis of the hindbrain/ developmental arrest theory [24][25][26][27] and other theories [28][29][30][31][32] a neural tube defect with the Chiari-II malformation; this theory was based on their laboratory experiments. They proposed that the neurulation defect was directly related to and preceded formation of the Chiari-II malformation, and they suggested that the failure to adequately occlude the neurocele led to the failure of distention of the primi tive cranial ventricular system.…”

Section: Discussionmentioning

confidence: 99%

Experimental Model: Change in the Posterior Fossa with Surgically Induced Spina bif ida aperta in Mouse

Inagaki

Schoenwolf²,

Walker

1997

Pediatr Neurosurg

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On the basis of experimental studies on mouse embryos in which spina bifida development of the brain ventricular system. Mouse embryos were exposed and surgically treated at gestation day 12 to produce spina bifida aperta, and operated embryos were cultured exo utero in the peritoneal cavity of the pregnant dam. Embryos were harvested at gestation day 14. Open neural tube defects resulted in 7 out of 10 embryos surviving surgery. Histological examination revealed that the sizes of ventricles in both the supra- and infratentorial compartments were greatly reduced in embryos with spina bifida aperta compared with control embryos. This result supports the hypothesis that leakage of cerebrospinal fluid through the opening of the caudal spine may be a major cause of brain abnormalities in patients with myelomeningocele.

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Section: Discussionmentioning

confidence: 99%

Experimental Model: Change in the Posterior Fossa with Surgically Induced Spina bif ida aperta in Mouse

Inagaki

Schoenwolf²,

Walker

1997

Pediatr Neurosurg

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“…In this study we have shown that there is an inverse relationship between the relative size of the posterior fossa and the degree of tonsillar her niation (r = 0.54, p = 0.0035). A discrepancy between the size of the posterior fossa and the requirements of its growing contents was postulated over 30 years ago by Bar ry et al [23] to explain the more extensive brainstem anomalies that comprise the type-II Chiari malformation seen particularly in association with open neural tube defects. Small posterior fossa size along with anomalies of the skull base have also been demonstrated radiologically in cases of the Chiari-I malformation [ 16.…”

Section: Hindbrain Herniation and Posterior Fossa Sizementioning

confidence: 99%

Aetiology of Herniation of the Hindbrain in Craniosynostosis

et al. 1997

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The occurrence and extent of herniation of the hindbrain has been evaluated in a population of children with craniosynostosis by means of magnetic resonance imaging of the craniocervical junction. The role of intracranial pressure (ICP), posterior fossa size and hydrocephalus in the development of this deformity has also been assessed. Magnetic resonance imaging (Siemens Magnetom 1.5T) was reviewed in 27 cases of craniosynostosis in whom there had been no previous cranial vault surgery. The position of the cerebellar tonsils in relation to the plane of the foramen magnum was measured and an index of the size of the posterior fossa relative to the rest of the cranial vault was also calculated for each case. The presence of hydrocephalus (requiring a cerebrospinal fluid diversion procedure) was documented. In 22 of these cases overnight, subdural ICP monitoring using the Camino fibre optic device had also been performed. Herniation of the hindbrain below the plane of the foramen magnum occurred in 10 of 27 cases (37%). The level of ICP showed a significant correlation with the extent of hindbrain herniation (p < 0.001) as did small posterior fossa size (p = 0.0035). Hydrocephalus was present in 4 patients, all of whom had hindbrain herniation. The extent of hindbrain herniation did not correlate with age (p = 0.48). We propose that herniation of the hindbrain in craniosynostosis is a consequence of brain deformation occurring in response to the physical forces imposed by a combination of the anatomical deformity at the skull base and intracranial hypertension rather than a primary malformation of brain development as commonly supposed.

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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: 97%

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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Possible Factors in the Development of the Arnold-Chiari Malformation

Cited by 143 publications

References 13 publications

Experimental Model: Change in the Posterior Fossa with Surgically Induced Spina bif ida aperta in Mouse

Experimental Model: Change in the Posterior Fossa with Surgically Induced Spina bif ida aperta in Mouse

Aetiology of Herniation of the Hindbrain in Craniosynostosis

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

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