MRI Findings in Low Grade Tumours Associated with Focal Cortical Dysplasia

Focal cortical dysplasia (FCD) is a congenital developmental anomaly that is one of the leading causes of refractory epilepsy. MRI is an essential examination and T1WI, T2WI, and FLAIR images are commonly used MR sequences for delineating FCD.1 However, these MRI findings are often insufficiently clear. We experienced two FCD cases that were much better visualized by using T1WI with chemical shift selective (CHESS) than with T2WI and FLAIR images. CHESS is the most frequently used fat suppression pulse in clinical practice. We report two cases in which CHESS clearly demonstrated FCD, and compare the cases' pathology and MRI findings.

Download Full-text

Low-grade focal cortical dysplasia is associated with prenatal and perinatal brain injury

Epilepsia ◽

10.1111/j.1528-1167.2010.02730.x ◽

2010 ◽

Vol 51 (12) ◽

pp. 2440-2448 ◽

Cited By ~ 29

Author(s):

Pavel Krsek ◽

Alena Jahodova ◽

Bruno Maton ◽

Prasanna Jayakar ◽

Patricia Dean ◽

...

Keyword(s):

Brain Injury ◽

Focal Cortical Dysplasia ◽

Cortical Dysplasia ◽

Low Grade ◽

Perinatal Brain Injury

Download Full-text

Transmantle sign in focal cortical dysplasia: a unique radiological entity with excellent prognosis for seizure control

Journal of Neurosurgery ◽

10.3171/2012.10.jns12119 ◽

2013 ◽

Vol 118 (2) ◽

pp. 337-344 ◽

Cited By ~ 21

Author(s):

Doris D. Wang ◽

Abby E. Deans ◽

A. James Barkovich ◽

Tarik Tihan ◽

Nicholas M. Barbaro ◽

...

Keyword(s):

Seizure Control ◽

Focal Cortical Dysplasia ◽

Prognostic Significance ◽

Intractable Epilepsy ◽

Cortical Dysplasia ◽

Seizure Freedom ◽

Mri Findings ◽

Patient Demographics ◽

Vagus Nerve Stimulator ◽

Common Causes

Object Focal cortical dysplasia (FCD) represents a spectrum of developmental cortical abnormalities and is one of the most common causes of intractable epilepsy in children and young adults. Outcomes after surgery for FCD are highly variable, and prognosticators of seizure freedom are unclear. In a subset of FCDs, a transmantle sign is observed on imaging that focally spans the entire cerebral mantle from the ventricle to the cortical surface. The aim of this study was to characterize seizure control outcomes and prognostic significance of the transmantle sign in FCD epilepsy. Methods Fourteen patients with the transmantle sign underwent epilepsy surgery for medically refractory epilepsy. Thirteen patients underwent resective surgery and 1 underwent multiple subpial transections with vagus nerve stimulator placement. Patient demographics, MRI, electroencephalography, intraoperative electrocorticography (ECoG), and pathology were reviewed. The results of this series were compared with those of 114 previously reported patients with FCD without the transmantle sign. Results All patients were found to have childhood seizure onset and concordant MRI and ECoG findings. The primary MRI findings associated with transmantle sign included gray-white junction blurring, appearance of cortical thickening, T2 or FLAIR abnormality, and bottom-of-the-sulcus dysplasia. The transmantle sign was usually a focal finding, typically confined to 1 or several gyri with well-circumscribed epileptic tissue. Correlation of the transmantle sign with FCD histopathological subtypes was highly variable. Patients who underwent complete resection of MRI and ECoG abnormalities (12 of 13 patients) became seizure free. When compared with 114 FCD patients without the transmantle sign, patients with the transmantle sign showed significantly improved seizure-free outcomes after complete resections (p = 0.04). Conclusions The presence of the transmantle sign in patients with medically refractory partial epilepsy is associated with highly favorable seizure control outcomes after surgical treatment.

Download Full-text

Detection of brain somatic variation in epilepsy-associated developmental lesions

10.1101/2021.12.06.21267079 ◽

2021 ◽

Author(s):

Tracy A Bedrosian ◽

Katherine E Miller ◽

Olivia E Grischow ◽

Hyojung Yoon ◽

Kathleen M Schieffer ◽

...

Keyword(s):

Focal Epilepsy ◽

Mapk Pathway ◽

Focal Cortical Dysplasia ◽

Somatic Mosaicism ◽

Cortical Dysplasia ◽

Disease Genes ◽

Low Grade ◽

Type I ◽

Somatic Variation ◽

Tissue Samples

Epilepsy-associated developmental lesions, including malformations of cortical development and low-grade developmental tumors, represent a major cause of drug-resistant seizures requiring surgical intervention in children. Brain-restricted somatic mosaicism has been implicated in the genetic etiology of these lesions; however, many contributory genes remain unidentified. We enrolled 50 children undergoing epilepsy surgery into a translational research study. We performed exome and RNA-sequencing of resected brain tissue samples to identify somatic variation. We uncovered candidate disease-causing somatic variation affecting 28 patients (56%), as well as candidate germline variants affecting 4 patients (8%). We confirmed somatic findings using high-depth targeted DNA sequencing. In agreement with previous studies, we identified somatic variation affecting SLC35A2 and MTOR pathway genes in patients with focal cortical dysplasia. Somatic gains of chromosome 1q were detected in 30% (3 of 10) Type I FCD patients. Somatic variation of MAPK pathway genes (i.e., FGFR1, FGFR2, BRAF, KRAS) was associated with low-grade epilepsy-associated developmental tumors. Somatic structural variation accounted for over one-half of epilepsy-associated tumor diagnoses. Sampling across multiple anatomic regions revealed that somatic variant allele fractions vary widely within epileptogenic tissue. Finally, we identified putative disease-causing variants in genes (EEF2, NAV2, PTPN11) not yet associated with focal cortical dysplasia. These results further elucidate the genetic basis of structural brain abnormalities leading to focal epilepsy in children and point to new candidate disease genes.

Download Full-text

A case of epilepsy in multiple sclerosis: Three-dimensional double inversion recovery sequences revealed cortical dysplasia

The Neuroradiology Journal ◽

10.1177/1971400917697732 ◽

2017 ◽

Vol 30 (4) ◽

pp. 352-355 ◽

Cited By ~ 3

Author(s):

Domenico S Zimatore ◽

Mirko Trentadue ◽

Marco Castellaro ◽

Monica Ferlisi ◽

Enrico Piovan ◽

...

Keyword(s):

Multiple Sclerosis ◽

Focal Cortical Dysplasia ◽

Three Dimensional ◽

Brain Magnetic Resonance Imaging ◽

Cortical Dysplasia ◽

Inversion Recovery ◽

Double Inversion Recovery ◽

Mri Findings ◽

Magnetic Resonance Imaging Mri ◽

Fdg Pet Ct

In epileptic patients with multiple sclerosis (MS), cortical lesions have been suggested to cause seizures. In brain magnetic resonance imaging (MRI), double inversion recovery (DIR) sequences are generally used to evaluate MS cortical disease burden. We present the case of a woman, diagnosed with MS, suffering from drug-resistant partial seizures initially attributed to MS. The patient underwent many MRI exams, but only by means of high-resolution three-dimensional DIR sequences was a focal cortical dysplasia discovered. The MRI findings and FDG-PET/CT supported the diagnosis. This case recommends the use of DIR sequences both in patients with suspect epileptogenic lesions not detected with routine MRI protocols and in epileptic patient with MS, before ascribing seizures to MS.

Download Full-text

Intraoperative acquisition of DTI in cranial neurosurgery: readout-segmented DTI versus standard single-shot DTI

Journal of Neurosurgery ◽

10.3171/2019.5.jns19890 ◽

2020 ◽

Vol 133 (4) ◽

pp. 1210-1219 ◽

Cited By ~ 1

Author(s):

Cameron A. Elliott ◽

Hayden Danyluk ◽

Keith E. Aronyk ◽

Karolyn Au ◽

B. Matt Wheatley ◽

...

Keyword(s):

Diffusion Tensor ◽

Focal Cortical Dysplasia ◽

High Grade Glioma ◽

Cortical Dysplasia ◽

Low Grade ◽

Single Shot ◽

Planar Imaging ◽

Susceptibility Artifact ◽

Echo Planar ◽

Diffusion Tensor Imaging Dti

OBJECTIVEDiffusion tensor imaging (DTI) tractography is commonly used in neurosurgical practice but is largely limited to the preoperative setting. This is due primarily to image degradation caused by susceptibility artifact when conventional single-shot (SS) echo-planar imaging (EPI) DTI (SS-DTI) is acquired for open cranial, surgical position intraoperative DTI (iDTI). Readout-segmented (RS) EPI DTI (RS-DTI) has been reported to reduce such artifact but has not yet been evaluated in the intraoperative MRI (iMRI) environment. The authors evaluated the performance of RS versus SS EPI for DTI of the human brain in the iMRI setting.METHODSPre- and intraoperative 3-T 3D T1-weighted and 2D multislice RS-iDTI (called RESOLVE [readout segmentation of long variable echo-trains] on the Siemens platform) and SS-iDTI images were acquired in 22 adult patients undergoing intraaxial iMRI resections for suspected low-grade glioma (14; 64%), high-grade glioma (7; 32%), or focal cortical dysplasia. Regional susceptibility artifact, anatomical deviation relative to T1-weighted imaging, and tractographic output for surgically relevant tracts were compared between iDTI sequences as well as the intraoperative tract shifts from preoperative DTI.RESULTSRS-iDTI resulted in qualitatively less regional susceptibility artifact (resection cavity, orbitofrontal and anterior temporal cortices) and mean anatomical deviation in regions most prone to susceptibility artifact (RS-iDTI 2.7 ± 0.2 vs SS-iDTI 7.5 ± 0.4 mm) compared to SS-iDTI. Although tract reconstruction success did not significantly differ by DTI method, susceptibility artifact–related tractography failure (of at least 1 surgically relevant tract) occurred for SS-iDTI in 8/22 (36%) patients, and in 5 of these 8 patients RS-iDTI permitted successful reconstruction. Among cases with successful tractography for both sequences, maximal intersequence differences were substantial (mean 9.5 ± 5.7 mm, range −27.1 to 18.7 mm).CONCLUSIONSRS EPI enables higher quality and more accurate DTI for surgically relevant tractography of major white matter tracts in intraoperative, open cranium neurosurgical applications at 3 T.

Download Full-text

Relationship between focal cortical dysplasia and epilepsy-associated low-grade tumors: an immunohistochemical study

Apmis ◽

10.1111/j.1600-0463.2012.02938.x ◽

2012 ◽

Vol 121 (1) ◽

pp. 22-29 ◽

Cited By ~ 12

Author(s):

Gianluca Marucci ◽

Matteo Martinoni ◽

Marco Giulioni

Keyword(s):

Immunohistochemical Study ◽

Focal Cortical Dysplasia ◽

Cortical Dysplasia ◽

Low Grade

Download Full-text

Mutant BRAF in low‐grade epilepsy‐associated tumors and focal cortical dysplasia

Annals of Clinical and Translational Neurology ◽

10.1002/acn3.31 ◽

2014 ◽

Vol 1 (2) ◽

pp. 130-134 ◽

Cited By ~ 25

Author(s):

Gianluca Marucci ◽

Dario Biase ◽

Michela Visani ◽

Marco Giulioni ◽

Matteo Martinoni ◽

...

Keyword(s):

Focal Cortical Dysplasia ◽

Cortical Dysplasia ◽

Low Grade ◽

Associated Tumors ◽

Mutant Braf

Download Full-text

P.034 Focal cortical dysplasia type IIIb associated with oligodendroglioma in a seizure free patient: a case report

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques ◽

10.1017/cjn.2017.119 ◽

2017 ◽

Vol 44 (S2) ◽

pp. S22-S22

Author(s):

MA MacLean ◽

AS Easton ◽

GE Pickett

Keyword(s):

Focal Cortical Dysplasia ◽

Cortical Dysplasia ◽

Low Grade ◽

Who Grade ◽

Type Iiib ◽

Malformation Of Cortical Development ◽

Grade Ii ◽

Pathologic Analysis ◽

The Right ◽

International League

Background: Focal cortical dysplasia (FCD) refers to malformation of cortical development featuring abnormalities of cortical layering, neuronal differentiation and maturation. It is a common cause of medically refractory epilepsy. The coexistence of FCD and low-grade glial neoplasms such as ganglioglioma and dysembryoplastic neuroepithelial tumour is classified by the International League Against Epilepsy as “FCD Type IIIb”. We present a case of FCD Type IIIb associated with low grade oligodendroglioma (WHO grade II) in a seizure free patient. Methods: A 20-year-old male presented with suspected arteriovenous malformation of the right pinna. Imaging revealed an incidental right frontal lobe mass. Surgical resection was performed. Pathologic analysis revealed FCD Type IIIb associated with low grade oligodendroglioma (WHO grade II). Results: The patient recovered uneventfully. Only 4 prior cases of FCD Type IIIb associated with oligodendroglioma have been reported. This is the first reported case of FCD Type IIIb discovered incidentally in a seizure free patient. Conclusions: FCD Type IIIb associated with oligodendroglioma is rare. The mechanism(s) by which glioneuronal neoplasms and perilesional cortical tissue jointly contribute to epileptogenicity have not been clearly defined. There may be a reduced risk of seizures with oligodendroglioma rather than tumors with a neuronal component.

Download Full-text

Striking MRI Changes of Focal Cortical Dysplasia over Time: A Case Series and Literature Review

Neurology Clinical Practice ◽

10.1212/cpj.0000000000001019 ◽

2020 ◽

pp. 10.1212/CPJ.0000000000001019

Author(s):

Adina Achiriloaie ◽

Jeremy Deisch ◽

Warren Boling ◽

Firas Bannout

Keyword(s):

Focal Cortical Dysplasia ◽

Case Reports ◽

Scientific Evidence ◽

Adult Population ◽

Brain Mri ◽

Case Series ◽

Cortical Dysplasia ◽

Mri Findings ◽

Mri Changes ◽

Over Time

ABSTRACTPurposeof review: Brain MRI findings of focal cortical dysplasia (FCD) can undergo dramatic changes over time, which may be related to long-term epilepsy or a combination of histopathologic changes that necessitate further investigation.Recent findings:We describe two cases of FCD Type IIb that initially displayed inconspicuous findings on MRI, however progressed to obvious signal changes on subsequent MRI 10-17 years later. Pathologic analysis indicates that the interval changes are likely attributed to reactive astrogliosis and diffuse parenchymal rarefaction. A few case reports and case series showing similar MRI changes have been described in the literature, the majority in pediatric patients. The adult cases we present add to the scientific evidence of these changes occurring in the adult population.Summary:Our observations lead to several clinical suggestions, including closer interval follow up imaging for non-lesional cases, the addition of post-processing imaging methods, earlier surgical intervention, and meticulous surgical planning.

Download Full-text