Three-Dimensional CT Morphometric Image Analysis of the Clivus and Sphenoid Sinus in Chiari Malformation Type I

Nwotchouang, Blaise Simplice Talla; Eppelheimer, Maggie S.; Bishop, Paul D.; Biswas, Dipankar; Andronowski, Janna M.; Bapuraj, Jayapalli Rajiv; Frim, David M.; Labuda, Rick; Amini, Rouzbeh; Loth, Francis

doi:10.1007/s10439-019-02301-5

Cited by 19 publications

(11 citation statements)

References 38 publications

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“…These findings have potential implications for CM1 treatment. Multiple non-neural mechanisms have been proposed to account for CM1, including decreased posterior fossa volume, [89][90][91][92] joint laxity near the skull base, 93,94 and CSF flow abnormalities. 95,96 However, given the genetic data presented here, a primary driver of some forms of CM1 may be overactive neurogenesis.…”

Section: Discussionmentioning

confidence: 99%

Rare and de novo coding variants in chromodomain genes in Chiari I malformation

Sadler

Wilborn

Antunes

et al. 2021

The American Journal of Human Genetics

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Chiari I malformation (CM1), the displacement of the cerebellum through the foramen magnum into the spinal canal, is one of the most common pediatric neurological conditions. Individuals with CM1 can present with neurological symptoms, including severe headaches and sensory or motor deficits, often as a consequence of brainstem compression or syringomyelia (SM). We conducted whole-exome sequencing (WES) on 668 CM1 probands and 232 family members and performed gene-burden and de novo enrichment analyses. A significant enrichment of rare and de novo non-synonymous variants in chromodomain (CHD) genes was observed among individuals with CM1 (combined p ¼ 2.4 3 10 À10 ), including 3 de novo loss-of-function variants in CHD8 (LOF enrichment p ¼ 1.9 3 10 À10 ) and a significant burden of rare transmitted variants in CHD3 (p ¼ 1.8 3 10 À6 ). Overall, individuals with CM1 were found to have significantly increased head circumference (p ¼ 2.6 3 10 À9 ), with many harboring CHD rare variants having macrocephaly. Finally, haploinsufficiency for chd8 in zebrafish led to macrocephaly and posterior hindbrain displacement reminiscent of CM1. These results implicate chromodomain genes and excessive brain growth in CM1 pathogenesis.

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Section: Discussionmentioning

confidence: 99%

Rare and de novo coding variants in chromodomain genes in Chiari I malformation

Sadler

Wilborn

Antunes

et al. 2021

The American Journal of Human Genetics

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“…Pediatric ICTE subjects were also found to have a ~3mm shortening of the distance from the McRae line to these hindbrain structures, implying a similar type of hindbrain sagging as seen in adult CMI. However, the clivus bone in adult CMI has also been found to be signi cantly shorter compared to controls, with a larger reduction in men than women (5.4 vs. 3 mm, respectively) [29,31,37]. In the present study, the differences in clivus length between ICTE and controls were not as dramatic (1.15 and 2.15 mm, for females and males, respectively), with only the male difference reaching statistical signi cance.…”

Section: Pcf Structure Heightscontrasting

confidence: 49%

“…While the morphometrics of adult CMI has been studied extensively, less information is available regarding pediatric CMI morphometrics. In fact, several studies have reported the limited availability of MRIs as the reason for excluding pediatric subjects [29][30][31]. The pediatric morphometric studies that exist have produced mixed results, possibly due to the di culties in acquiring gender and age-matched control images [32][33][34][35].…”

Section: Introductionmentioning

confidence: 99%

Imaging and health metrics in incidental cerebellar tonsillar ectopia: findings from the Adolescent Brain Cognitive Development Study (ABCD)

et al. 2021

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Incidental cerebellar tonsillar ectopia (ICTE) that meets the radiographic criterion for Chiari malformation type I (CMI) is an increasingly common nding in the clinical setting, but its signi cance 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 identi ed 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 signi cantly different between the ICTE and control groups for females and males, respectively. Notably, for females, the anterior CSF space was signi cantly smaller (p = 0.00005) for the ICTE group than controls. For males, the clivus bone length was signi cantly shorter (p = 0.0002) for the ICTE group compared to controls. No signi cant 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.

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“…Other radiographic clues associated with CM include syringomyelia and tethered cord which are not commonly seen in a sCSF leak [2]. In addition, recent evidence has suggested that reduced clivus volume and increased sphenoid sinus volume are associated with CM [11]. These findings were absent in all 5 patients.…”

Section: Discussionmentioning

confidence: 94%

Cerebellar tonsillar descent: A diagnostic dilemma between Chiari malformation type 1 and spinal cerebrospinal fluid leak

Chan

Vuong

Chugh

et al. 2021

Heliyon

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Cerebellar tonsillar descent can be seen on head magnetic resonance imaging in both Chiari malformation type 1 and spinal cerebrospinal fluid leak creating the potential for misdiagnosis. We report five cases of spinal cerebrospinal fluid leak at Stanford University initially misdiagnosed and treated as Chiari malformation type 1 based on cerebellar tonsillar descent demonstrated on imaging. All five cases had sustained relief at the 6-month follow up visit from epidural blood patches for the treatment of spinal cerebrospinal leak after unsuccessful suboccipital decompression surgeries. A misdiagnosis of Chiari malformation type 1 in patients with spinal cerebrospinal fluid leak may lead to unnecessary surgeries instead of the less invasive treatment, such as epidural blood patches. It is imperative to consider a spinal cerebrospinal fluid leak in the differential based on clinical-radiological correlation and not solely on cerebellar tonsillar descent demonstrated on imaging.

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Three-Dimensional CT Morphometric Image Analysis of the Clivus and Sphenoid Sinus in Chiari Malformation Type I

Cited by 19 publications

References 38 publications

Rare and de novo coding variants in chromodomain genes in Chiari I malformation

Rare and de novo coding variants in chromodomain genes in Chiari I malformation

Imaging and health metrics in incidental cerebellar tonsillar ectopia: findings from the Adolescent Brain Cognitive Development Study (ABCD)

Cerebellar tonsillar descent: A diagnostic dilemma between Chiari malformation type 1 and spinal cerebrospinal fluid leak

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