Fetal Familial Cerebral Cavernous Malformation With a Novel Heterozygous KRIT1 Pathogenic Variant

Neurology ◽  
2021 ◽  
pp. 10.1212/WNL.0000000000012852
Author(s):  
Dan Cheng ◽  
Xiang Shang ◽  
Wanli Gao ◽  
Frederik Barkhof ◽  
Yaou Liu
Keyword(s):  
Cavernous Malformation ◽  
Novel Mutation ◽  
Brain Mri ◽  
Brain Magnetic Resonance Imaging ◽  
Fetal Mri ◽  
Cerebral Cavernous Malformation ◽  
Left Frontal Lobe ◽  
Whole Exome ◽  
Magnetic Resonance Imaging Mri ◽  
Familial Cerebral Cavernous Malformation

Objectives:To identify fetal familial cerebral cavernous malformation (CCMs) and a novel mutation.Methods:A 37-year-old pregnant woman (G4P0) presented right-handed numbness since two weeks at 31 weeks of gestation. Evaluation with brain magnetic resonance imaging (MRI) revealed multiple CCMs. As a result, fetal MRI, fetal Whole Exome Sequencing (WES), and maternal Sanger sequencing were performed.Results:The mother’s brain MRI demonstrated numerous CCMs involving the brain stem, cerebral hemispheres, and cerebellum. Fetal MRI showed a CCM located in the left frontal lobe in SWI. The neuroimaging characteristics of the mother and the fetus suggested that their CCMs may be familial. Genetic analysis revealed a novel mutation in KRIT1 (c.1A>G, p.0?), also called CCM1, in the mother and the baby. The mother delivered a daughter at 32 weeks of gestation with an Apgar score of 10 by cesarean section.Discussion:This mutation of the initial codon in the KRIT1 gene leads to a phenotype with an early-onset. To our knowledge, this is the first-ever reported case of fetal familial CCM and this novel mutation. Brain MRI has excellent sensitivity and specificity, providing the best option for detecting CCMs, even in utero, primarily when SWI is used.

Pediatric Reversible Cerebral Vasoconstriction Syndrome: Two Unique Cases with a Review of all Reported Children

2021 ◽  
Author(s):  
Neelu Desai ◽  
Rahul Badheka ◽  
Nitin Shah ◽  
Vrajesh Udani
Keyword(s):  
Magnetic Resonance ◽  
Cerebral Arteries ◽  
Brain Mri ◽  
Brain Magnetic Resonance Imaging ◽  
Reversible Cerebral Vasoconstriction Syndrome ◽  
Neurological Deficits ◽  
Cerebral Vasoconstriction ◽  
Magnetic Resonance Imaging Mri ◽  
Reversible Encephalopathy ◽  
Mr Angiogram

AbstractReversible cerebral vasoconstriction syndrome (RCVS) has been well described in adults, but pediatric cases are yet under recognized. We describe two children with RCVS and review similar already published pediatric cases. The first patient was a 10-year-old girl who presented with severe headaches and seizures 3 days after blood transfusion. Brain magnetic resonance imaging (MRI) showed changes compatible with posterior reversible encephalopathy syndrome and subarachnoid hemorrhage. Magnetic resonance angiogram showed diffuse vasoconstriction of multiple cerebral arteries. The second patient was a 9-year-old boy who presented with severe thunderclap headaches. Brain MRI showed isolated intraventricular hemorrhage. Computed tomography/MR angiogram and digital subtraction angiogram were normal. A week later, he developed focal neurological deficits. Repeated MR angiogram showed diffuse vasospasm of multiple intracranial arteries. Both children recovered completely. A clinico-radiological review of previously reported childhood RCVS is provided.

scholarly journals Prevalence and Clinical Implications of Incidentally Detected Parotid Lesions as Blind Spot on Brain MRI: A Single-Center Experience

Medicina ◽  
2021 ◽  
Vol 57 (8) ◽  
pp. 836
Author(s):  
In-Chul Nam ◽  
Hye-Jin Baek ◽  
Kyeong-Hwa Ryu ◽  
Jin-Il Moon ◽  
Eun Cho ◽  
...  
Keyword(s):  
Brain Mri ◽  
Brain Magnetic Resonance Imaging ◽  
Blind Spot ◽  
Clinical Implications ◽  
Single Center Experience ◽  
Superficial Lobe ◽  
Mean Size ◽  
Magnetic Resonance Imaging Mri ◽  
Clinical Awareness ◽  
Low Prevalence

Background and objective: This study was conducted to assess the prevalence and clinical implications of parotid lesions detected incidentally during brain magnetic resonance imaging (MRI) examination. Materials and Methods: Between February 2016 and February 2021, we identified 86 lesions in the brain MRI reports of 84 patients that contained the words “parotid gland” or “PG”. Of these, we finally included 49 lesions involving 45 patients following histopathological confirmation. Results: Based on the laboratory, radiological or histopathological findings, the prevalence of incidental parotid lesions was low (1.2%). Among the 45 study patients, 41 (91.1%) had unilateral lesions, and the majority of the lesions were located in the superficial lobe (40/49, 81.6%). The mean size of the parotid lesions was 1.3 cm ± 0.4 cm (range, 0.5 cm–2.8 cm). Of these, 46 parotid lesions (93.9%) were benign, whereas the remaining three lesions were malignant (6.1%). Conclusions: Despite the low prevalence and incidence of malignancy associated with incidental parotid lesions detected on brain MRI, the clinical implications are potentially significant. Therefore, clinical awareness and appropriate imaging work-up of these lesions are important for accurate diagnosis and timely management.

scholarly journals Ensemble classification and segmentation for intracranial metastatic tumors on MRI images based on 2D U-nets

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Cheng-Chung Li ◽  
Meng-Yun Wu ◽  
Ying-Chou Sun ◽  
Hung-Hsun Chen ◽  
Hsiu-Mei Wu ◽  
...  
Keyword(s):  
Active Contour Model ◽  
Brain Mri ◽  
Gamma Knife Radiosurgery ◽  
Imbalanced Data ◽  
Brain Magnetic Resonance Imaging ◽  
Region Of Interest ◽  
Ensemble Classification ◽  
Metastatic Tumors ◽  
Post Contrast ◽  
Magnetic Resonance Imaging Mri

AbstractThe extraction of brain tumor tissues in 3D Brain Magnetic Resonance Imaging (MRI) plays an important role in diagnosis before the gamma knife radiosurgery (GKRS). In this article, the post-contrast T1 whole-brain MRI images had been collected by Taipei Veterans General Hospital (TVGH) and stored in DICOM format (dated from 1999 to 2018). The proposed method starts with the active contour model to get the region of interest (ROI) automatically and enhance the image contrast. The segmentation models are trained by MRI images with tumors to avoid imbalanced data problem under model construction. In order to achieve this objective, a two-step ensemble approach is used to establish such diagnosis, first, classify whether there is any tumor in the image, and second, segment the intracranial metastatic tumors by ensemble neural networks based on 2D U-Net architecture. The ensemble for classification and segmentation simultaneously also improves segmentation accuracy. The result of classification achieves a F1-measure of $$75.64\%$$ 75.64 % , while the result of segmentation achieves an IoU of $$84.83\%$$ 84.83 % and a DICE score of $$86.21\%$$ 86.21 % . Significantly reduce the time for manual labeling from 30 min to 18 s per patient.

Familial Cerebral Cavernous Malformation Mimicking Cerebral Amyloid Angiopathy

2021 ◽  
pp. 10.1212/CPJ.0000000000001055
Author(s):  
Mohamed Ridha ◽  
Yasmin Aziz ◽  
Joseph Broderick
Keyword(s):  
Cerebral Amyloid Angiopathy ◽  
Cavernous Malformation ◽  
Pathogenic Mutation ◽  
Cerebral Cavernous Malformation ◽  
Amyloid Angiopathy ◽  
History Of ◽  
Cerebral Amyloid ◽  
Cerebral Microhemorrhages ◽  
Familial Cerebral Cavernous Malformation ◽  
Work Up

A 67-year-old man was referred from ophthalmology for possible cerebral amyloid angiopathy (CAA) discovered during work-up of possible optic neuropathy. MRI (figure 1) demonstrated innumerable periventricular, brainstem, and cortical cerebral microhemorrhages (CMH). Scattered, non-specific white matter hyperintensities was seen on T2-weighted imaging without surrounding hypointense rim. He had no hypertension, and the distribution was uncharacteristic for CAA. Despite absent family history of stroke or seizure, testing for familial cerebral cavernous malformation (FCCM) identified a pathogenic mutation of KRIT1 (c.382G>T).

scholarly journals Can we evaluate cranial aneurysms on conventional brain magnetic resonance imaging?

2016 ◽  
Vol 7 (01) ◽  
pp. 83-86 ◽  
Author(s):  
Emine Caliskan ◽  
Yeliz Pekcevik ◽  
Adnan Kaya
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Characteristic Curve ◽  
Brain Mri ◽  
Brain Magnetic Resonance Imaging ◽  
Kappa Statistics ◽  
Resonance Imaging ◽  
Vascular Structures ◽  
Magnetic Resonance Imaging Mri ◽  
Age Range

ABSTRACT Purpose: To evaluate the contribution of conventional brain magnetic resonance imaging (MRI) for the determination of intracranial aneurysms. Materials and Methods: Brain MRI and computed tomography angiography (CTA) of 45 patients (29 women and 16 men; age range, 32–80 years) with aneurysm were analyzed. A comparison was made between brain MRI and CTA based on size and presence of aneurysm. The comparisons between MRI and CTA were investigated through Bland-Altman graphics, receiver operating characteristic curve, and Kappa statistics. Results: Fifty-seven aneurysms were evaluated. Forty-five percent of 57 aneurysms on CTA were detected on conventional brain MRI. A significant correlation was found between CTA and brain MRI in the diagnosis of aneurysm (P < 0.05). In an analysis of the size measurement, a significant correlation was observed between CTA and brain MRI. Seventy-seven percent of aneurysms <4 mm was not detected and the efficiency of MRI in the detection of aneurysms <4 mm was found to be low. Conclusion: Aneurysms can also be appreciated on conventional brain MRI, and vascular structures should be reviewed carefully while analyzing brain MRI.

scholarly journals Cutaneous findings of familial cerebral cavernous malformation syndrome due to the common Hispanic mutation

2020 ◽  
Vol 182 (5) ◽  
pp. 1066-1072
Author(s):  
Athanasios K. Manole ◽  
Vernon J. Forrester ◽  
Barrett J. Zlotoff ◽  
Blaine L. Hart ◽  
Leslie A. Morrison
Keyword(s):  
Cavernous Malformation ◽  
Cerebral Cavernous Malformation ◽  
Malformation Syndrome ◽  
The Common ◽  
Familial Cerebral Cavernous Malformation

Catamenial Synkinetic Retroauricular Pain

Cephalalgia ◽  
2003 ◽  
Vol 23 (3) ◽  
pp. 214-217 ◽  
Author(s):  
DE Jacome
Keyword(s):  
White Matter Hyperintensities ◽  
Rare Complication ◽  
Brain Mri ◽  
Brain Magnetic Resonance Imaging ◽  
Bell’S Palsy ◽  
Bell's Palsy ◽  
Patient Reported ◽  
Magnetic Resonance Imaging Mri ◽  
Eye Closure ◽  
Facial Synkinesis

A report of two female patients with persistent unilateral retroauricular pain and cranial synkinesis following Bell's palsy. Pain occurred during menses in the first patient and was exacerbated by menses in the second patient. Retroauricular pain often precedes or follows Bell's palsy. Pain normally disappears within 2 weeks from the onset of paralysis. Neurological examination, brain magnetic resonance imaging (MRI), computed tomography of the head and cranial electrophysiological testing were performed. The first patient had severe right retroauricular pain during her menses for several years following Bell's palsy. Her brain MRI showed non-specific T2 white matter hyperintensities. On her electromyogram she had facial synkinesis with tonic motor unit discharges on her right orbicularis oris and mentalis muscles during sustained eye closure. The second patient reported hearing a sound over her left ear when she blinked or protruded her jaw after Bell's palsy. She had ipsilateral retroauricular pain, exacerbated during menses. Her brain MRI was normal. Electromyogram showed facial synkinesis. Chronic retroauricular pain, occurring or exacerbated during menses, may be a rare complication of Bell's palsy. It can be associated with facial subclinical synkinetic dystonia and trigemino-facial synkinesis.

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