Bilateral Posterior Periventricular Nodular Heterotopia: A Recognizable Cortical Malformation with a Spectrum of Associated Brain Abnormalities

Mandelstam, Simone; Leventer, Richard J.; Sandow, A.; McGillivray, George; Kogelenberg, Margriet van; Guerrini, Renzo; Robertson, Stephen; Berkovic, Samuel F.; Jackson, Graeme D.; Scheffer, Ingrid E.

doi:10.3174/ajnr.a3427

Cited by 30 publications

(41 citation statements)

References 40 publications

(39 reference statements)

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“…Bilateral PVNH is often due to mutations in FLNA (3-6); however, in many cases and phenotypic subgroups of PVNH (38), the genetic aetiology is not known. Gross anatomical consequences on brain development that are a result of genetic mutations, are often readily visible on structural MRI.…”

Section: Discussionmentioning

confidence: 99%

Periventricular Nodular Heterotopia: Detection of Abnormal Microanatomic Fiber Structures with Whole-Brain Diffusion MR Imaging Tractography

Farquharson¹,

Tournier²,

Calamante³

et al. 2016

Radiology

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Advances in knowledge:1. Whole-brain Constrained Spherical Deconvolution (CSD) based fibre tractography and superresolution Track Density Imaging (TDI) mapping revealed abnormal fibre projections in nodular tissue suggestive of abnormal organization of white matter (with abnormal fibres both within nodules and projecting to the surrounding white matter) in patients with bilateral periventricular nodular heterotopia (PVNH).2. The detection of abnormal fibre structures by all four readers in all fourteen patients studied (Fleiss Kappa (κ ) = 1.0 SE = 0.0, 95% CI = 1.0 to 1), indicates that these architectural abnormalities are particularly prevalent in patients with bilateral PVNH. Implications for patient care:Whole-brain tractography mapping techniques provide an opportunity to non-invasively detect in vivo abnormal structures potentially involved in ictal networks; such maps could be used to aid the identification of appropriate surgical targets for individuals undergoing evaluation for epilepsy surgery. Results: Abnormal fibre tracks emanating from one or more regions of heterotopia were reported by all four readers in all 14 patients with PVNH studied (Fleiss Kappa (κ) = 1). These abnormal structures were not visible in the tractography data of any of the control subjects, and not discernable on the conventional T1 weighted images of the PVNH patients. Conclusion:Whole-brain CSD-based fibre tractography and super-resolution TDI mapping reveals abnormal fibre projections in nodular tissue suggestive of abnormal organization of white matter (with abnormal fibres both within nodules and projecting to the surrounding white matter) in patients with bilateral PVNH.

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Section: Discussionmentioning

confidence: 99%

Periventricular Nodular Heterotopia: Detection of Abnormal Microanatomic Fiber Structures with Whole-Brain Diffusion MR Imaging Tractography

Farquharson¹,

Tournier²,

Calamante³

et al. 2016

Radiology

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“…Typically, a few nodules lie immediately adjacent to the ventricular wall or a few millimeters away from it; the neurons may be arranged in a pattern suggestive of laminar organization (Garbelli et al 2009), and they contain primarily later-born neurons (Ferland and Guerrini 2009). PNH is often associated with other malformations, which vary with the location of the heterotopia; patients with posterior (trigonal, occipital, and temporal horns) PNH have a high incidence of cerebellar dysgenesis, corpus callosum anomalies, under-rotated hippocampi, and temporal lobe cortical dysgenesis of various types (Pisano et al 2012;González et al 2013;Mandelstam et al 2013). More complex forms include subcortical heterotopia, which are a continuous, often swirling conglomeration of neurons that extend from the ependyma to the cortex; a subset of these contain colony-stimulating factor (CSF) and blood vessels and are continuous with the subarachnoid space (Barkovich 2000).…”

Section: Gray Matter Heterotopiamentioning

confidence: 99%

Malformations of Cortical Development and Epilepsy

Barkovich

Dobyns²,

Guerrini

2015

Cold Spring Harbor Perspectives in Medicine

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119

108

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Malformations of cortical development (MCDs) are an important cause of epilepsy and an extremely interesting group of disorders from the perspective of brain development and its perturbations. Many new MCDs have been described in recent years as a result of improvements in imaging, genetic testing, and understanding of the effects of mutations on the ability of their protein products to correctly function within the molecular pathways by which the brain functions. In this review, most of the major MCDs are reviewed from a clinical, embryological, and genetic perspective. The most recent literature regarding clinical diagnosis, mechanisms of development, and future paths of research are discussed.

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“…9 The presence of SEH also demonstrates a strong association with other structural anomalies in the brain in addition to Chiari malformation, including cerebral cortical malformations, callosal anomalies, and decreased white matter volume. [10][11][12] However, very little radiology literature has reported on the detection of SEH on fetal MR imaging, with only case reports and a few small case series described. [13][14][15] Many authors believe that SEH can be identified on fetal MR imaging.…”

mentioning

confidence: 99%

“…7 Although the exact implications in this subset of patients are still under investigation, ample reports in the literature describe the clinical relevance of SEH. [8][9][10][11][12] Up to 80% of patients with SEH have been reported to develop epilepsy during their lifetimes, and disorders of cognition are seen in anywhere from 20% to 60%. 9 The presence of SEH also demonstrates a strong association with other structural anomalies in the brain in addition to Chiari malformation, including cerebral cortical malformations, callosal anomalies, and decreased white matter volume.…”

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confidence: 99%

Evaluation of Subependymal Gray Matter Heterotopias on Fetal MRI

Nagaraj

Peiró

Bierbrauer

et al. 2015

AJNR Am J Neuroradiol

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BACKGROUND AND PURPOSE: Subependymal grey matter heterotopias are seen in a high proportion of children with Chiari II malformation and are potentially clinically relevant. However, despite its growing use, there is little in the literature describing its detection on fetal MRI. Our aim was to evaluate the accuracy in diagnosing subependymal gray matter heterotopias in fetuses with spinal dysraphism on fetal MR imaging.

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Bilateral Posterior Periventricular Nodular Heterotopia: A Recognizable Cortical Malformation with a Spectrum of Associated Brain Abnormalities

Cited by 30 publications

References 40 publications

Periventricular Nodular Heterotopia: Detection of Abnormal Microanatomic Fiber Structures with Whole-Brain Diffusion MR Imaging Tractography

Periventricular Nodular Heterotopia: Detection of Abnormal Microanatomic Fiber Structures with Whole-Brain Diffusion MR Imaging Tractography

Malformations of Cortical Development and Epilepsy

Evaluation of Subependymal Gray Matter Heterotopias on Fetal MRI

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