Chiari malformations: principles of diagnosis and management

Piper, Rory J; Pike, Michael; Harrington, Richard; Magdum, Shailendra

doi:10.1136/bmj.l1159

Cited by 29 publications

(18 citation statements)

References 35 publications

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“…Headache is the most common presenting feature. It is classically described as a sub-occipital headache or neck pain triggered or exacerbated by Valsalva-like maneuvers (such as coughing or straining) [6][7].…”

Section: Discussionmentioning

confidence: 99%

“…Infants may have neurogenic dysphagia (presenting as poor feeding, choking, regurgitation, aspiration pneumonia), vocal cord paralysis (causing altered phonation, a hoarse or high-pitched cry), impaired respiratory drive (presenting as apnoea or respiratory arrest), or stridor. Hydrocephalus is more frequent in this type, which will produce more characteristic signs of increased intracranial pressure [7][8].…”

Section: Discussionmentioning

confidence: 99%

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Semilobar Holoprosencephaly: Capacious Anomaly in the Cephalad

Veluchamy¹,

Murugan²

2020

Cureus

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The holoprosencephalies (HPEs) are a group of disorders that are characterized by a failure of differentiation and midline cleavage of the prosencephalon, which usually occurs between days 18 and 28 of gestation. HPE has been divided into three subcategories based on the structural malformation: alobar, semilobar, and lobar HPE. Middle interhemispheric variant (MIH) or syntelencephaly is also considered as a milder variant of HPE. It is estimated to occur in 1/16,000 live births and 1/250 conceptuses. HPE is caused by genetic factors or environmental factors and teratogens. Clinical presentation depends on the severity of the malformation. Severe cases are usually associated with facial abnormalities like hypertelorism or midline facial clefts. HPE is diagnosed prenatally by ultrasound and MRI. Treatment of HPE is supportive and symptomatic. The clinical outcome depends on the severity of HPE and associated medical and neurological complications.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Semilobar Holoprosencephaly: Capacious Anomaly in the Cephalad

Veluchamy¹,

Murugan²

2020

Cureus

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“…The precise natural history of CM1 has not been established and management is generally indicated for patients with severe symptoms, progressive neurological deficits, or those affected by significant syringomyelia with the goal of alleviating symptoms and preventing neurological deterioration [6]. Diagnosis of CM1 rests on identification of displacement of the cerebellar tonsils below the foramen magnum [7]. Currently, it is most widely accepted that a herniation of 5 mm or more is the minimum criterion for diagnosis of CM1 [8][9][10].…”

Section: Introductionmentioning

confidence: 99%

Use of deep learning in the MRI diagnosis of Chiari malformation type I

et al. 2022

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Purpose To train deep learning convolutional neural network (CNN) models for classification of clinically significant Chiari malformation type I (CM1) on MRI to assist clinicians in diagnosis and decision making. Methods A retrospective MRI dataset of patients diagnosed with CM1 and healthy individuals with normal brain MRIs from the period January 2010 to May 2020 was used to train ResNet50 and VGG19 CNN models to automatically classify images as CM1 or normal. A total of 101 patients diagnosed with CM1 requiring surgery and 111 patients with normal brain MRIs were included (median age 30 with an interquartile range of 23–43; 81 women with CM1). Isotropic volume transformation, image cropping, skull stripping, and data augmentation were employed to optimize model accuracy. K-fold cross validation was used to calculate sensitivity, specificity, and the area under receiver operating characteristic curve (AUC) for model evaluation. Results The VGG19 model with data augmentation achieved a sensitivity of 97.1% and a specificity of 97.4% with an AUC of 0.99. The ResNet50 model achieved a sensitivity of 94.0% and a specificity of 94.4% with an AUC of 0.98. Conclusions VGG19 and ResNet50 CNN models can be trained to automatically detect clinically significant CM1 on MRI with a high sensitivity and specificity. These models have the potential to be developed into clinical support tools in diagnosing CM1.

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“…3 Other patients with CM1 may have significant symptoms, neurological deficits and complications. 4 Crowding of the neural structures in the foramen magnum can present with brainstem, cerebellar and spinal cord symptoms. There may be disruption to the normal flow of cerebrospinal fluid (CSF) through the foramen magnum and 50% of imaged patients have an associated spinal cord syrinx, and a small number of patients develop hydrocephalus.…”

Section: Introductionmentioning

confidence: 99%

UK Chiari 1 Study: protocol for a prospective, observational, multicentre study

et al. 2021

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IntroductionChiari 1 malformation (CM1) is a structural abnormality of the hindbrain characterised by the descent of the cerebellar tonsils through the foramen magnum. The management of patients with CM1 remains contentious since there are currently no UK or international guidelines for clinicians. We therefore propose a collaborative, prospective, multicentre study on the investigation, management and outcome of CM1 in the UK: the UK Chiari 1 Study (UKC1S). Our primary objective is to determine the health-related quality of life (HRQoL) in patients with a new diagnosis of CM1 managed either conservatively or surgically at 12 months of follow-up. We also aim to: (A) determine HRQoL 12 months following surgery; (B) measure complications 12 months following surgery; (C) determine the natural history of patients with CM1 treated conservatively without surgery; (D) determine the radiological correlates of presenting symptoms, signs and outcomes; and (E) determine the scope and variation within UK practice in referral patterns, patient pathways, investigations and surgical decisions.Methods and analysisThe UKC1S will be a prospective, multicentre and observational study that will follow the British Neurosurgical Trainee Research Collaborative model of collaborative research. Patients will be recruited after attending their first neurosurgical outpatient clinic appointment. Follow-up data will be collected from all patients at 12 months from baseline regardless of whether they are treated surgically or not. A further 12-month postoperative follow-up timepoint will be added for patients treated with decompressive surgery. The study is expected to last three years.Ethics and disseminationThe UKC1S received a favourable ethical opinion from the East Midlands Leicester South Research Ethics Committee (REC reference: 20/EM/0053; IRAS 269739) and the Health Research Authority. The results of the study will be published in peer-reviewed medical journals, presented at scientific conferences, shared with collaborating sites and shared with participant patients if they so wish.

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Chiari malformations: principles of diagnosis and management

Cited by 29 publications

References 35 publications

Semilobar Holoprosencephaly: Capacious Anomaly in the Cephalad

Semilobar Holoprosencephaly: Capacious Anomaly in the Cephalad

Use of deep learning in the MRI diagnosis of Chiari malformation type I

UK Chiari 1 Study: protocol for a prospective, observational, multicentre study

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