Focal and Generalized Patterns of Cerebral Cortical Veins Due to Non-Convulsive Status Epilepticus or Prolonged Seizure Episode after Convulsive Status Epilepticus – A MRI Study Using Susceptibility Weighted Imaging

Verma, Rajeev; Abela, Eugenio; Schindler, Kaspar; Krestel, Heinz; Springer, Elisabeth; Huber, Adrian Thomas; Weisstanner, Christian; Hauf, Martinus; Gralla, Jan; Wiest, Roland

doi:10.1371/journal.pone.0160495

Cited by 16 publications

(12 citation statements)

References 27 publications

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“…The lesions progressed to volume loss and cavitation in the older siblings, more prominent in the putamen than in the caudate, and to compensatory ventricular enlargement. T2WI and T1WI after contrast media administration showed enhancement of the lenticulo-striate arteries, probably corresponding to vascular hypertrophy and proliferation in response to hypoperfusion and deoxygenation, a scenario previously reported in anatomopathological descriptions of LS [32][33][34]. Of note, none of the patients presented with pallidal compromise.…”

Section: Discussionsupporting

confidence: 63%

Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood

Baide‐Mairena

Gaudó

Martí-Sánchez

et al. 2019

Molecular Genetics and Metabolism

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To perform a deep phenotype characterisation in a pedigree of 3 siblings with Leigh syndrome and compound heterozygous NDUFAF6 mutations. Method: A multi-gene panel of childhood-onset basal ganglia neurodegeneration inherited conditions was analysed followed by functional studies in fibroblasts. Results: Three siblings developed gait dystonia in infancy followed by rapid progression to generalised dystonia and psychomotor regression. Brain magnetic resonance showed symmetric and bilateral cytotoxic lesions in the putamen and proliferation of the lenticular-striate arteries, latter spreading to the caudate and progressing to cavitation and volume loss. We identified a frameshift novel change (c.554_558delTTCTT; p.Tyr187AsnfsTer65) and a pathogenic missense change (c.371T > C; p.Ile124Thr) in the NDUFAF6 gene, which segregated with an autosomal recessive inheritance within the family. Patient mutations were associated with the absence of the NDUFAF6 protein and reduced activity and assembly of mature complex I in fibroblasts. By functional complementation assay, the mutant phenotype was rescued by the canonical version of the NDUFAF6. A literature review of 14 NDUFAF6 patients showed a consistent phenotype of an early childhood insidious onset neurological regression with prominent dystonia associated with basal ganglia degeneration and long survival. Interpretation: NDUFAF6-related Leigh syndrome is a relevant cause of childhood onset dystonia and isolated bilateral striatal necrosis. By genetic complementation, we could demonstrate the pathogenicity of novel genetic variants in NDUFAF6.

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Section: Discussionsupporting

confidence: 63%

Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood

Baide‐Mairena

Gaudó

Martí-Sánchez

et al. 2019

Molecular Genetics and Metabolism

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“…The decreased perfusion findings in these children help to differentiate symptoms due to an ischemic cause from other conditions that may mimic stroke, such as a postictal state that typically shows increased regional blood flow. [12][13][14] We recognize limitations in our study. Our series is retrospective in nature and small in number.…”

Section: Discussionmentioning

confidence: 89%

Transient Focal Neurologic Symptoms Correspond to Regional Cerebral Hypoperfusion by MRI: A Stroke Mimic in Children

Lehman

Danehy

Trenor

et al. 2017

AJNR Am J Neuroradiol

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Children who present with acute transient focal neurologic symptoms raise concern for stroke or transient ischemic attack. We present a series of 16 children who presented with transient focal neurologic symptoms that raised concern for acute stroke but who had no evidence of infarction and had unilateral, potentially reversible imaging features on vascular and perfusion-sensitive brain MR imaging. Patients were examined with routine brain MR imaging, MRA, perfusion-sensitive sequences, and DWI. Fourteen (88%) children had lateralized MRA evidence of arterial tree pruning without occlusion, all had negative DWI findings, and all showed evidence of hemispheric hypoperfusion by susceptibility-weighted imaging or arterial spin-labeling perfusion imaging at presentation. These findings normalized following resolution of symptoms in all children who had follow-up imaging (6/16, 38%). The use of MR imaging with perfusion-sensitive sequences, DWI, and MRA can help to rapidly distinguish children with conditions mimicking stroke from those with acute stroke.

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“…This is consistent with previous reports of the presence of red veins in patients with superficial temporal artery (STA)-MCA anastomosis who subsequently experienced intracerebral hemorrhage due to hyperperfusion 11) and focal hyperperfusion during the ictal state of an epileptic seizure. 4,5) In our case, the elevated signal intensity of perilateral ventricular veins may have been due to decreased levels of deoxyhemoglobin caused by hyperperfusion.…”

Section: Discussionmentioning

confidence: 56%

“…2,3) We report a case of cerebral hyperperfusion after CEA, in which the patient presented with dynamic changes in the SWI signal intensities of unilateral cortical arteries, cortical veins, and perilateral ventricular veins, which were correlated with changes in the resting cerebral blood flow (rCBF) as evaluated by SPECT. Although there were some reports of SWI findings related to luxury perfusion after cerebral infarction and focal cerebral hyperperfusion during the ictal state of an epileptic seizure, [4][5][6] this is the first report of SWI findings related to cerebral hyperperfusion after CEA.…”

Section: Introductionmentioning

confidence: 79%

A Case of Cerebral Hyperperfusion Showing Unique Characteristics on Susceptibility-weighted MR Imaging after Carotid Endarterectomy

Yamaguchi

Yoshimura

Horikawa

et al. 2020

NMC Case Report Journal

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Focal and Generalized Patterns of Cerebral Cortical Veins Due to Non-Convulsive Status Epilepticus or Prolonged Seizure Episode after Convulsive Status Epilepticus – A MRI Study Using Susceptibility Weighted Imaging

Cited by 16 publications

References 27 publications

Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood

Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood

Transient Focal Neurologic Symptoms Correspond to Regional Cerebral Hypoperfusion by MRI: A Stroke Mimic in Children

A Case of Cerebral Hyperperfusion Showing Unique Characteristics on Susceptibility-weighted MR Imaging after Carotid Endarterectomy

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