MRI Head Coil Malfunction Producing Artifacts Mimicking Malformation of Cortical Development in Pediatric Epilepsy Work-Up

N. Kashani; N. Khan; J.M. Ospel; X.-C. Wei

doi:10.3174/ajnr.a6639

MRI Head Coil Malfunction Producing Artifacts Mimicking Malformation of Cortical Development in Pediatric Epilepsy Work-Up

American Journal of Neuroradiology ◽

10.3174/ajnr.a6639 ◽

2020 ◽

Vol 41 (8) ◽

pp. 1538-1540

Author(s):

N. Kashani ◽

N. Khan ◽

J.M. Ospel ◽

X.-C. Wei

Keyword(s):

Cortical Development ◽

Pediatric Epilepsy ◽

Malformation Of Cortical Development ◽

Work Up ◽

Head Coil

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Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia

BMC Medical Genomics ◽

10.1186/s12920-021-00911-4 ◽

2021 ◽

Vol 14 (1) ◽

Author(s):

Carla De Angelis ◽

Alicia B. Byrne ◽

Rebecca Morrow ◽

Jinghua Feng ◽

Thuong Ha ◽

...

Keyword(s):

Cortical Development ◽

Occipital Cortex ◽

Compound Heterozygous ◽

Valuable Insight ◽

Periventricular Nodular Heterotopia ◽

Case Presentation ◽

Malformation Of Cortical Development ◽

Nodular Heterotopia ◽

Compound Heterozygous Variants ◽

Insight Into

Abstract Background Periventricular nodular heterotopia (PNH) is a malformation of cortical development characterized by nodules of abnormally migrated neurons. The cause of posteriorly placed PNH is not well characterised and we present a case that provides insights into the cause of posterior PNH. Case presentation We report a fetus with extensive posterior PNH in association with biallelic variants in LAMC3. LAMC3 mutations have previously been shown to cause polymicrogyria and pachygyria in the occipital cortex, but not PNH. The occipital location of PNH in our case and the proposed function of LAMC3 in cortical development suggest that the identified LAMC3 variants may be causal of PNH in this fetus. Conclusion We hypothesise that this finding extends the cortical phenotype associated with LAMC3 and provides valuable insight into genetic cause of posterior PNH.

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Malformations of cortical development: current concepts and advanced neuroimaging review

Arquivos de Neuro-Psiquiatria ◽

10.1590/s0004-282x2011000100024 ◽

2011 ◽

Vol 69 (1) ◽

pp. 130-138 ◽

Cited By ~ 13

Author(s):

Celi Santos Andrade ◽

Claudia da Costa Leite

Keyword(s):

Imaging Techniques ◽

Cortical Development ◽

Motor Dysfunction ◽

Malformations Of Cortical Development ◽

Neurodevelopmental Delay ◽

Complex Process ◽

Magnetic Resonance Imaging Mri ◽

Specific Disorders ◽

Patients With Epilepsy ◽

Work Up

Malformations of cortical development (MCD) result from disruptions in the complex process of the human brain cortex formation and are highly associated to severe epilepsy, neurodevelopmental delay and motor dysfunction. Nowadays, magnetic resonance imaging (MRI) is the cornerstone of the work-up of patients with epilepsy and modern advanced imaging techniques have improved not only our ability to detect and characterize cortical malformations, but also in identifying associated functional abnormalities that are far beyond the structural visualized lesions. Herein, we address the most currently used classifications of MCD and make a concise review of the embryological process of cortical development. Our main goal is to summarize recent advances and new trends in diagnostic imaging techniques concerning MCD. Thereafter, follows a brief discussion of specific disorders and their radiological features.

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A case of mild malformation of cortical development with oligodendroglial hyperplasia and epilepsy (MOGHE)

Diagnostic radiology and radiotherapy ◽

10.22328/2079-5343-2021-12-3-93-100 ◽

2021 ◽

Vol 12 (3) ◽

pp. 93-100

Author(s):

V. S. Khalilov ◽

A. N. Kislyakov ◽

T. V. Basalay ◽

A. V. Levov ◽

A. A. Kholin

Keyword(s):

White Matter ◽

Frontal Lobe ◽

Focal Cortical Dysplasia ◽

Epileptiform Activity ◽

Cortical Development ◽

Dynamic Mri ◽

Subtotal Resection ◽

Pharmacoresistant Epilepsy ◽

Malformation Of Cortical Development ◽

The Right

Recently, in the scientist community of specialists dealing with structural epilepsy, it has been noticed an increasing interest in a special form of cortical development disorder not to be included in the ILAE Classification of the epilepsies the 2017 revision. It is so-called mild malformation of cortical development with oligodendroglial hyperplasia and epilepsy (MOGHE). There are a number of publications devoted to the neuroimaging features of MOGHE, which are possible to distinguish from other epileptogenic substrates in comparisons with clinical/anamnestic data and dynamic observation. Our paper describes the case of a patient under 6 years suffering from pharmacoresistant epilepsy with histologically confirmed MOGHE, and having undergone the procedure of epileptic surgery. MRI showed an increased intensity of the T2/FLAIR signal from the white matter in combination with signs of laminar hyperintensivity, regional sulcation disturbance, smoothness of gray-white matter demarcation in the right frontal lobe. A signal intensification from the white matter with the formation similarity of the «transmantl» sign and further pronounced smoothness of the gray-white matter demarcation was observed on dynamic MRI. These changes were estimated as focal cortical dysplasia. Pre-surgical examination revealed a correlation of epileptiform activity with MRI changes. The subtotal resection of the right frontal lobe and the morphological conclusion established the presence of MOGHE was performed.

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