Cribriform Appearance of White Matter in Canavan Disease Associated with Novel Mutations of ASPA Gene

AbstractCribriform appearance of the brain in Canavan disease is a rare finding. The two presented cases broaden the magnetic resonance imaging (MRI) phenotype wherein numerous oval, cystic structures, a few resembling dilated Virchow-Robin (VR) spaces, were noted in the centrum semiovale, periventricular, and lobar white matter producing a cribriform pattern. Besides, discrete round to oval cysts were present at the gray–white matter junctions in the second case, which were larger and appeared morphologically distinct from the VR spaces. These cysts did not elongate in any plane on imaging and were more representative of giant intramyelinic vacuoles. Genetic analysis revealed novel mutations in the aspartoacylase or ASPA gene that possibly accounts for the severe form of Canavan disease, which probably explains the imaging findings. The multicystic appearance of the white matter in Canavan disease is unusual and possibly represents two different histopathological substrates.

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Magnetic Resonance Imaging of The Brain in Patients With Migraine

Cephalalgia ◽

10.1046/j.1468-2982.1991.1102069.x ◽

1991 ◽

Vol 11 (2) ◽

pp. 69-74 ◽

Cited By ~ 62

Author(s):

Hisaka Igarashi ◽

Fumihiko Sakai ◽

Shinichi Kan ◽

Jun Okada ◽

Yoshiaki Tazaki

Keyword(s):

Magnetic Resonance Imaging ◽

White Matter ◽

Magnetic Resonance ◽

Young Patients ◽

Proton Density ◽

Resonance Imaging ◽

Centrum Semiovale ◽

Migraine Frequency ◽

Magnetic Resonance Imaging Mri ◽

The Brain

Magnetic resonance imaging (MRI) was studied in 91 patients with migraine and in 98 controls. Risk factors known to cause MRI lesions were carefully examined. In 36 patients with migraine (39.6%), small foci of high intensity on T2-weighted and proton-density-weighted images were seen in the white matter. Of patients with migraine who were less than 40 years old and without any risk factor, 29.4% showed lesions on MRI; this was significantly higher than the 11.2% for the group of age-matched controls ( n = 98). The lesions were distributed predominantly in the centrum semiovale and frontal white matter in young patients, but extended to the deeper white matter at the level of basal ganglia in the older age group. The side of the MRI lesions did not always correspond to the side of usual aura or headache. Migraine-related variables such as type of migraine, frequency, duration or intensity of headache or consumption of ergotamine showed no significant correlation with the incidence of MRI abnormalities. Our data indicated that migraine may be associated with early pathologic changes in the brain.

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Hypoperfusion and T1-hypointense lesions in white matter in multiple sclerosis

Multiple Sclerosis Journal ◽

10.1177/1352458513495936 ◽

2013 ◽

Vol 20 (3) ◽

pp. 365-373 ◽

Cited By ~ 28

Author(s):

Ponnada A Narayana ◽

Yuxiang Zhou ◽

Khader M Hasan ◽

Sushmita Datta ◽

Xiaojun Sun ◽

...

Keyword(s):

Multiple Sclerosis ◽

White Matter ◽

Arterial Spin Labeling ◽

Healthy Controls ◽

Resonance Imaging ◽

Distribution Maps ◽

T2 Lesions ◽

Magnetic Resonance Imaging Mri ◽

Continuous Arterial Spin Labeling ◽

The Brain

Background: Longitudinal magnetic resonance imaging (MRI) studies show that a fraction of the multiple sclerosis (MS) T2-lesions contain T1-hypointense components that may persist to represent severe, irreversible tissue damage. It is not known why certain lesions convert to persistent T1-hypointense lesions. Objective: We hypothesized that the T1-hypointense lesions disproportionately distribute in the more hypoperfused areas of the brain. Here we investigated the association between hypoperfusion and T1-hypointense lesion distributions. Methods: MRI and cerebral blood flow (CBF) data were acquired on 45 multiple sclerosis (MS) patients and 20 healthy controls. CBF maps were generated using pseudo-continuous arterial spin labeling technique. The lesion probability distribution maps were superimposed on the CBF maps. Results: Two distinct CBF clusters were observed in the white matter (WM) both in healthy controls and MS patients. An overall reduction in CBF was observed in MS patients compared to healthy controls. The majority of the T1-hypointense lesions were concentrated almost exclusively in the WM regions with lower CBF. The T2-hyperintense lesions were more generally distributed in both higher and lower perfused WM. Conclusion: This study suggests an association between hypoperfusion and T1-hypointense lesions.

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X-linked Charcot–Marie–Tooth Disease Presenting with Stuttering Stroke-like Symptoms

Neuropediatrics ◽

10.1055/s-0039-1692982 ◽

2019 ◽

Vol 50 (05) ◽

pp. 304-307 ◽

Cited By ~ 2

Author(s):

Duriel I. Hardy ◽

Daniel J. Licht ◽

Arastoo Vossough ◽

Matthew P. Kirschen

Keyword(s):

Foot Deformities ◽

Periventricular White Matter ◽

Resonance Imaging ◽

Centrum Semiovale ◽

Charcot Marie Tooth ◽

Charcot Marie Tooth Disease ◽

Magnetic Resonance Imaging Mri ◽

T2 Hyperintensity ◽

The Brain ◽

Tooth Disease

AbstractX-linked Charcot–Marie–Tooth disease (CMTX1) is the second most common form of Charcot–Marie–Tooth disease (CMT). It is caused by a mutation in the gap junction β 1 (GJB1) gene, which encodes for connexin-32. In addition to the peripheral neuropathy and foot deformities observed in classic CMT, central nervous system symptoms and magnetic resonance imaging (MRI) signal abnormalities in the brain have been reported in patients with CMTX1. Here we describe two cases of adolescent males who presented with stuttering neurologic deficits that were initially suggestive of acute ischemic stroke and were ultimately diagnosed with genetically confirmed CMTX1. Both patients had evidence of T2 hyperintensity and decreased diffusion on MRI in the centrum semiovale, posterior corona radiata, posterior periventricular white matter, and corpus callosum. Though rare, these cases illustrate the importance of comprehensive neurologic history, physical examination, and appropriate diagnostic evaluation.

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Juxtacortical susceptibility changes in progressive multifocal leukoencephalopathy at the gray–white matter junction correlates with iron-enriched macrophages

Multiple Sclerosis Journal ◽

10.1177/1352458521999651 ◽

2021 ◽

pp. 135245852199965

Author(s):

Kedar R Mahajan ◽

Moein Amin ◽

Matthew Poturalski ◽

Jonathan Lee ◽

Danielle Herman ◽

...

Keyword(s):

White Matter ◽

Progressive Multifocal Leukoencephalopathy ◽

Central Nervous System Lymphoma ◽

Susceptibility Weighted Imaging ◽

Resonance Imaging ◽

Gradient Echo ◽

Total N ◽

Mri Brain ◽

Fluid Attenuated Inversion Recovery ◽

Magnetic Resonance Imaging Mri

Objective: Describe magnetic resonance imaging (MRI) susceptibility changes in progressive multifocal leukoencephalopathy (PML) and identify neuropathological correlates. Methods: PML cases and matched controls with primary central nervous system lymphoma (PCNSL) were retrospectively identified. MRI brain at 3 T and 7 T were reviewed. MRI-pathology correlations in fixed brain autopsy tissue were conducted in three subjects with confirmed PML. Results: With PML ( n = 26 total, n = 5 multiple sclerosis natalizumab-associated), juxtacortical changes on susceptibility-weighted imaging (SWI) or gradient echo (GRE) sequences were noted in 3/3 cases on 7 T MRI and 14/22 cases (63.6%) on 1.5 T or 8/22 (36.4%) 3 T MRI. Similar findings were only noted in 3/25 (12.0%) of PCNSL patients (odds ratio (OR) 12.83, 95% confidence interval (CI), 2.9–56.7, p < 0.001) on 1.5 or 3 T MRI. On susceptibility sequences available prior to diagnosis of PML, 7 (87.5%) had changes present on average 2.7 ± 1.8 months (mean ± SD) prior to diagnosis. Postmortem 7 T MRI showed SWI changes corresponded to areas of increased iron density along the gray–white matter (GM-WM) junction predominantly in macrophages. Conclusion: Susceptibility changes in PML along the GM-WM junction can precede noticeable fluid-attenuated inversion recovery (FLAIR) changes and correlates with iron accumulation in macrophages.

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Cinematic rendering of a burst sagittal suture caused by an occipito-frontal gunshot wound

Forensic Science Medicine and Pathology ◽

10.1007/s12024-021-00387-9 ◽

2021 ◽

Author(s):

Dominic Gascho ◽

Michael J. Thali ◽

Rosa M. Martinez ◽

Stephan A. Bolliger

Keyword(s):

Gunshot Wound ◽

Three Dimensional ◽

The Novel ◽

Sagittal Suture ◽

Resonance Imaging ◽

Cinematic Rendering ◽

Reconstruction Methods ◽

Dimensional Reconstruction ◽

Magnetic Resonance Imaging Mri ◽

The Brain

AbstractThe computed tomography (CT) scan of a 19-year-old man who died from an occipito-frontal gunshot wound presented an impressive radiating fracture line where the entire sagittal suture burst due to the high intracranial pressure that arose from a near-contact shot from a 9 mm bullet fired from a Glock 17 pistol. Photorealistic depictions of the radiating fracture lines along the cranial bones were created using three-dimensional reconstruction methods, such as the novel cinematic rendering technique that simulates the propagation and interaction of light when it passes through volumetric data. Since the brain had collapsed, depiction of soft tissue was insufficient on CT images. An additional magnetic resonance imaging (MRI) examination was performed, which enabled the diagnostic assessment of cerebral injuries.

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Diagnosing RCVS Without the CV

The Neurohospitalist ◽

10.1177/1941874415599576 ◽

2015 ◽

Vol 6 (3) ◽

pp. NP1-NP4 ◽

Cited By ~ 3

Author(s):

Nuri Jacoby ◽

Ulrike Kaunzner ◽

Marc Dinkin ◽

Joseph Safdieh

Keyword(s):

Magnetic Resonance ◽

Resonance Imaging ◽

Multiple Risk Factors ◽

Mri Brain ◽

Cerebral Vasoconstriction ◽

History Of ◽

Magnetic Resonance Imaging Mri ◽

Reversible Encephalopathy ◽

Occipital Lobes ◽

The Brain

This is a case of a 52-year-old man with a past medical history of 2 episodes of coital thunderclap headaches as well as recent cocaine, marijuana, and pseudoephedrine use, who presented with sudden, sharp, posterior headache associated with photophobia and phonophobia. His initial magnetic resonance imaging (MRI) of the brain, magnetic resonance angiography (MRA) of the head, and magnetic resonance venography (MRV) of the head were all normal as well as a normal lumbar puncture. Given the multiple risk factors for reversible cerebral vasoconstriction syndrome (RCVS), the patient was treated for suspected RCVS, despite the normal imaging. Repeat MRI brain 3 days after hospital admission demonstrated confluent white matter T2 hyperintensities most prominent in the occipital lobes, typical of posterior reversible encephalopathy syndrome (PRES). Repeat MRA of the head 1 day after discharge and 4 days after the abnormal MRI brain showed multisegment narrowing of multiple arteries. This case demonstrates that RCVS may present with PRES on MRI brain and also exemplifies the need to treat suspected RCVS even if imaging is normal, as abnormalities in both the MRI and the MRA may be delayed.

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876 Disorders of the Brain Revealed by Magnetic Resonance Imaging (MRI) in Infants with Severe Congenital Cytomegaly

Pediatric Research ◽

10.1203/00006450-201011001-00876 ◽

2010 ◽

Vol 68 ◽

pp. 440-440

Author(s):

B Milewska-Bobula ◽

B Lipka ◽

J Zebrowska ◽

E Jurkiewicz ◽

I Pakula-Kosciesza ◽

...

Keyword(s):

Magnetic Resonance Imaging ◽

Magnetic Resonance ◽

Resonance Imaging ◽

Magnetic Resonance Imaging Mri ◽

The Brain

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A Large-scale Comparison of Cortical and Subcortical Structural Segmentation Methods in Alzheimer’s Disease: a Statistical Approach

10.1101/2020.08.18.256321 ◽

2020 ◽

Author(s):

Jafar Zamani ◽

Ali Sadr ◽

Amir-Homayoun Javadi

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Large Scale ◽

Automated Segmentation ◽

Resonance Imaging ◽

Brain Areas ◽

Segmentation Methods ◽

Magnetic Resonance Imaging Mri ◽

Underlying Mechanisms ◽

The Brain

AbstractBackgroundAlzheimer’s disease (AD) is a neurodegenerative disease that leads to anatomical atrophy, as evidenced by magnetic resonance imaging (MRI). Automated segmentation methods are developed to help with the segmentation of different brain areas. However, their reliability has yet to be fully investigated. To have a more comprehensive understanding of the distribution of changes in AD, as well as investigating the reliability of different segmentation methods, in this study we compared volumes of cortical and subcortical brain segments, using automated segmentation methods in more than 60 areas between AD and healthy controls (HC).MethodsA total of 44 MRI images (22 AD and 22 HC, 50% females) were taken from the minimal interval resonance imaging in Alzheimer’s disease (MIRIAD) dataset. HIPS, volBrain, CAT and BrainSuite segmentation methods were used for the subfields of hippocampus, and the rest of the brain.ResultsWhile HIPS, volBrain and CAT showed strong conformity with the past literature, BrainSuite misclassified several brain areas. Additionally, the volume of the brain areas that successfully discriminated between AD and HC showed a correlation with mini mental state examination (MMSE) scores. The two methods of volBrain and CAT showed a very strong correlation. These two methods, however, did not correlate with BrainSuite.ConclusionOur results showed that automated segmentation methods HIPS, volBrain and CAT can be used in the classification of AD and HC. This is an indication that such methods can be used to inform researchers and clinicians of underlying mechanisms and progression of AD.

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Neurological manifestations of tuberous sclerosis in children (own observations)

International Professional Journal Medicine ◽

10.31082/1728-452x-2021-223-1-15-21 ◽

2021 ◽

Vol 1 (223) ◽

pp. 15-21

Author(s):

Aigerim Balykbayeva ◽

◽

Dina Bakrayeva ◽

Gaukhar Ospanova ◽

Yekaterina Talipova ◽

...

Keyword(s):

Tuberous Sclerosis ◽

Ultrasound Examination ◽

Resonance Imaging ◽

Laboratory Examination ◽

Internal Organs ◽

Cortical Dysgenesis ◽

Symptomatic Epilepsy ◽

Magnetic Resonance Imaging Mri ◽

The University ◽

The Brain

Tuberous sclerosis (Pringle-Burneville disease) is a polysystemic genetic disease and occurs in the population with a frequency of 1:50000. Objective of the study. To study neuropsychic status and dynamics of tuberous sclerosis development in children. Material and Methods. Have been examined 33 children aged from 1 to 14 years, who were observed in the neurological pediatric department of the University Clinic ("Aksay") of Asfendiyarov KazNMU. All children had apigmented spots and coffee-milk stains on the torso and extremities, not protruding above the skin level. All children showed characteristic neuroimaging changes in the brain by magnetic resonance imaging (MRI) and computed tomography (CT) - areas of dyshinesia cortically and subcortically, i.e. tubercles. As well as changes in internal organs (hamartoma variants). All children underwent a complete laboratory examination (general blood count, standard biochemical parameters), electroencephalography of the brain (EEG), as well as ultrasound examination of internal organs. Results and conclusions. As a result of our study, it was revealed that the main symptom confirming the diagnosis of tuberous sclerosis is the presence of tubers (95-100% of patients). Moreover, there is a topographical relationship between tubers detected during MRI examination and the presence of foci on the EEG. Thus, a particular manifestation of the disease in patients is symptomatic epilepsy with onset in the first months of life (96% of patients). Keywords: tuberous sclerosis, epilepsy, children, hamartomas, pigmented spots, cortical dysgenesis, tubers.

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Cerebral schistosomiasis: MRI features with pathological correlation

Acta Radiologica ◽

10.1177/0284185120934475 ◽

2020 ◽

pp. 028418512093447

Author(s):

Chun-yan Lu ◽

Sha Zhao ◽

Yi Wei

Keyword(s):

Magnetic Resonance Imaging ◽

Brain Area ◽

Pathological Findings ◽

Resonance Imaging ◽

Mri Findings ◽

Mri Features ◽

Cerebral Involvement ◽

Magnetic Resonance Imaging Mri ◽

The Brain ◽

Radiology And Pathology

Background Neuroschistosomiasis is not commonly encountered and is probably underrecognized. We hope these findings can help clinicians and radiologists to raise awareness of this disabling disorder. Purpose To demonstrate the magnetic resonance imaging (MRI) findings of cerebral schistosomiasis and correlate it with pathological findings. Material and Methods We identified seven patients with cerebral schistosomiasis from radiology and pathology archives of our hospital. Of the seven patients, six were pathologically confirmed. The remaining patient had pathologically confirmed spinal schistosomiasis with MRI findings of cerebral involvement. MRI and pathological findings of these patients were analyzed and correlated. Results Multiple enhancing nodules at varying size were found in all patients. Prominent leptomeningeal or choroidal veins were found in six patients, four at the center of the foci and two at the periphery. Hemorrhage was identified in two patients. Histology revealed granulomas around ova in six patients. A prominent vein with ova in the lumen and wall of a vein was found in one patient and perivascular ova deposition was found in one patient. Conclusion Multiple enhancing nodules with central or peripheral veins in a circumscribed brain area are important signs to the diagnosis of cerebral schistosomiasis. The inflamed veins involved may be the route taken by the ova to spread to the brain tissue.

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