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

Poretti, Andrea; Ashmawy, Ramy; Garzón-Muvdi, Tomás; Jallo, George I.; Huisman, Thierry A.G.M.; Raybaud, Charles

doi:10.1055/s-0036-1584563

Cited by 53 publications

(31 citation statements)

References 93 publications

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“…The prevalence of CH1 was reported as 0.5%-0.9% in various populations [1,6,9,10]. In our study, we found the prevalence as 9.2% on brain MRI, much higher compared to other studies in the literature.…”

Section: Discussioncontrasting

confidence: 48%

“…In their study, Taştemur et al [14] stated that in individuals with tonsillar herniation, foramen magnum sagittal diameter, cerebellum height, and cerebellum sagittal diameter increases, whereas the maximum cranial height, supraocciput length, clivus length, and fossa cranii posterior height decreases. It has been stated that the cranium would bend forward and the tonsils would be lower in the case of short villus and hypoplastic condyle [6]. It was found in our study that the bone structures of the study group were smaller and foramen magnum was larger.…”

Section: Discussionsupporting

confidence: 39%

“…Conservative treatment is recommended in mildly symptomatic or asymptomatic cases with less than 5 mm of tonsil ectopia, whereas surgical treatment is recommended in symptomatic cases [6].…”

Section: Introductionmentioning

confidence: 99%

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Impact of morphological measurements on symptoms in Chiari malformation type 1

Kavak¹,

Özdemir²,

Sorar³

2019

Journal of Surgery and Medicine

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Aim: Chiari malformation Type 1 (CM1) is a pathology resulting from herniation of cerebellar tonsils or tonsils into the spinal canal. We aimed to examine the impact of the cranium's morphological measurements on the symptoms with CM1 patients. Methods: This research was designed as a retrospective case-control study in a single-center. 2309 patients aged between 18-70 who underwent brain magnetic resonance imaging (MRI) to confirm or exclude the diagnosis of CM1 as a result of clinical and examination findings were evaluated. Cranium's morphological measurements, the amount of herniation, patient's symptoms, and the modified Asgari score were retrospectively assessed. Results: Patients with a final diagnosis of CM1 after the MRI evaluation were classified as study group (n=212), and the others control group (n=2097). The maximum cranial length, maximum cranial height, supra occiput length, posterior cranial fossa (PCF) anteroposterior length, in the study group were shorter, whereas the sagittal diameter of the foramen magnum and the longest anteroposterior diameter of the cerebrum were longer (P<0.001 for all mentioned comparisons). Tentorium cerebelli slope was found to be significantly lower in the study group (P<0.001). The most prevalent symptoms were a headache (92%). The herniation amount had a negative correlation with maximum cranial length and maximum cranial height (r=-0.184, P=0.07; r=-0.158 and P=0.022, respectively) and a positive correlation with the modified Asgari score (r=0.598; P<0.001). Conclusion: The cranium's morphological measurements have an impact on the symptoms of patients with CM1.

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Section: Discussioncontrasting

confidence: 48%

Section: Discussionsupporting

confidence: 39%

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Impact of morphological measurements on symptoms in Chiari malformation type 1

Kavak¹,

Özdemir²,

Sorar³

2019

Journal of Surgery and Medicine

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“…There are other examples of malformative disorders being related to local mechanical factors, for example, arachnoid cysts with surrounding brain hypoplasia and Chiari I malformation, in which a small posterior fossa results in distortion and inferior displacement of the cerebellar tonsils, which is why the term "Chiari I deformity" was proposed instead of "malformation." 16 In patients with the ACTA2 mutation, the abnormal arterial morphology and structural brain abnormalities parallel each other in both supratentorial and infratentorial parenchymauniversally so in the anterior part of the corpus callosum, anterior cingulate gyrus, and abnormal radial frontal gyration, and variably in the brain stem. In fact, the characteristic twin peaks appearance of the pons in the axial plane seems to be related to impression by the basilar artery as well as the indentation of the lateral pontine surface that may be due to the impression by the pontine arteries coming from the basilar artery (Fig 3).…”

Section: Discussionmentioning

confidence: 99%

Expanding the Distinctive Neuroimaging Phenotype of ACTA2 Mutations

D’Arco¹,

Alves

Raybaud

et al. 2018

AJNR Am J Neuroradiol

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BACKGROUND AND PURPOSE: Arg179His mutations in ACTA2 are associated with a distinctive neurovascular phenotype characterized by a straight course of intracranial arteries, absent basal Moyamoya collaterals, dilation of the proximal internal carotid arteries, and occlusive disease of the terminal internal carotid arteries. We now add to the distinctive neuroimaging features in these patients by describing their unique constellation of brain malformative findings that could flag the diagnosis in cases in which targeted cerebrovascular imaging has not been performed. MATERIALS AND METHODS: Neuroimaging studies from 13 patients with heterozygous Arg179His mutations in ACTA2 and 1 patient with pathognomonic clinicoradiologic findings for ACTA2 mutation were retrospectively reviewed. The presence and localization of brain malformations and other abnormal brain MR imaging findings are reported. RESULTS: Characteristics bending and hypoplasia of the anterior corpus callosum, apparent absence of the anterior gyrus cinguli, and radial frontal gyration were present in 100% of the patients; flattening of the pons on the midline and multiple indentations in the lateral surface of the pons were demonstrated in 93% of the patients; and apparent "squeezing" of the cerebral peduncles in 85% of the patients. CONCLUSIONS: Because ␣-actin is not expressed in the brain parenchyma, only in vascular tissue, we speculate that rather than a true malformative process, these findings represent a deformation of the brain during development related to the mechanical interaction with rigid arteries during the embryogenesis.

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“…[ 1 5 6 7 ] The onset of these symptoms, which occur in late childhood to adolescence, results in their incidental discovery upon diagnostic neuroimaging. [ 8 9 10 11 ]…”

Section: Introductionmentioning

confidence: 99%

Timing to surgery of Chiari malformation type 1 affects complication types: An analysis of 13,812 patients

Naessig

Kapadia

Para

et al. 2020

J Craniovert Jun Spine

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Background: Chiari malformations (CM) are congenital defects due to hypoplasia of the posterior fossa with cerebellar herniation into the foramen magnum and upper spinal canal. Despite the vast research done on this neurological and structural syndrome, clinical features and management options have not yet conclusively evolved. Quantification of proper treatment planning, can lead to potential perioperative benefits based on diagnoses and days to procedure. This study aims to identify if early operation produces better perioperative outcomes or if there are benefits to delaying CM surgery. Aims and Objective: Assess outcomes for Chiari type I. Methods: The KID database was queried for diagnoses of Chiari Malformation from 2003-2012 by icd9 codes (348.4, 741.0, 742.0, 742.2). Included patients: had complete time to procedure (TTP) data. Patients were stratified into 7 groups by TTP: Same-day as admission (SD), 1-day delay (1D), 2-day delay (2D), 3-day delay (3D), 4-7 days delay (4-7D), 8-14 days delay (8-14D), >14 days delay (>14D). Differences in pre-operative demographics (age/BMI) and perioperative complication rates between patient cohorts were assessed using Pearson's chi-squared tests and T-tests. Surgical details, perioperative complications, length of stay (LOS), total charges, and discharge disposition was compared. Binary logistic regressions determined independent predictors of varying complications (reference: same-day). Results: 13,812 Chiari type I patients were isolated from KID (10.12 ± 6.3, 49.2F%, .063 ± 1.3CCI). CM-1 pts were older (10.12 yrs vs 3.62 yrs) and had a higher Charlson Comorbidity Score (0.62 vs 0.53; all P < 0.05). Procedure rates: 27.8% laminectomy, 28.3% decompression, and 2.2% spinal fusion. CM-1 experienced more complications (61.2% vs 37.9%) with the most common being related to the nervous system (2.8%), anemia (2.4%), acute respiratory distress disorder (2.1%), and dysphagia (1.2%). SD was associated with the low length of stay (5.3 days vs 9.5-25.2 days, P < 0.001), total hospital charges ($70,265.44 vs $90, 945.33-$269, 193.26, P < 0.001) when compared to other TTP groups. Relative to SD, all delay groups had significantly increased odds of developing postoperative complications (1D-OR: 1.29 [1.1- 1.6] → 8-14D-OR: 4.77[3.4-6.6]; all P < 0.05), more specifically, nervous system (1D-OR: 1.8 [1.2-2.5] → 8-14D-OR: 3.3 [1.8-6.2]; all P < 0.05).Sepsis complications were associated with a delay of at least 3D(2.5[1.4-4.6]) while respiratory complications (6.2 [3.1-12.3]) and anemia (2 [1.1-3.5]) were associated with a delay of at least 8-14D (all P < 0.05).

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

Cited by 53 publications

References 93 publications

Impact of morphological measurements on symptoms in Chiari malformation type 1

Impact of morphological measurements on symptoms in Chiari malformation type 1

Expanding the Distinctive Neuroimaging Phenotype of ACTA2 Mutations

Timing to surgery of Chiari malformation type 1 affects complication types: An analysis of 13,812 patients

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