Megalencephalic leukoencephalopathy with subcortical cysts

ObjectiveTo provide an overview of clinical and MRI characteristics of the different variants of the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts (MLC) and identify possible differentiating features.MethodsWe performed an international multi-institutional, cross-sectional observational study of the clinical and MRI characteristics in patients with genetically confirmed MLC. Clinical information was obtained by questionnaires for physicians and retrospective chart review.ResultsWe included 204 patients with classic MLC, 187 of whom had recessive mutations in MLC1 (MLC1 variant) and 17 in GLIALCAM (MLC2A variant) and 38 patients with remitting MLC caused by dominant GLIALCAM mutations (MLC2B variant). We observed a relatively wide variability in neurologic disability among patients with classic MLC. No clinical differences could be identified between patients with MLC1 and MLC2A. Patients with MLC2B invariably had a milder phenotype with preservation of motor function, while intellectual disability and autism were relatively frequent. Systematic MRI review revealed no MRI features that distinguish between MLC1 and MLC2A. Radiologic improvement was observed in all patients with MLC2B and also in 2 patients with MLC1. In MRIs obtained in the early disease stage, absence of signal abnormalities of the posterior limb of the internal capsule and cerebellar white matter and presence of only rarefied subcortical white matter instead of true subcortical cysts were suggestive of MLC2B.ConclusionClinical and MRI features did not distinguish between classic MLC with MLC1 or GLIALCAM mutations. Absence of signal abnormalities of the internal capsule and cerebellar white matter are MRI findings that point to the remitting phenotype.

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Adult-onset Krabbe disease with homozygous T1853C mutation in the galactocerebrosidase gene

Neurology ◽

10.1212/wnl.49.5.1392 ◽

1997 ◽

Vol 49 (5) ◽

pp. 1392-1399 ◽

Cited By ~ 46

Author(s):

J.-I. Satoh ◽

H. Tokumoto ◽

K. Kurohara ◽

M. Yukitake ◽

M. Matsui ◽

...

Keyword(s):

White Matter ◽

Late Onset ◽

Spastic Paraparesis ◽

Internal Capsule ◽

Krabbe Disease ◽

High Signal ◽

Periventricular White Matter ◽

Mri Findings ◽

Posterior Limb ◽

Intellectual Capacity

A 51-year-old woman developed a slowly progressive spastic paraparesis and diminished vibration sense beginning at age 38. Intellectual capacity was normal. Krabbe disease was confirmed by markedly reduced leukocyte galactocerebrosidase (GALC) activity, typical inclusions in Schwann cell cytoplasm, and an identification of the homozygous point mutation T1835C(Leu618Ser) in the GALC gene. T2-weighted MRI of the brain showed symmetric high-signal-intensity lesions in the bilateral frontoparietal white matter, the centrum semiovale, and the posterior limb of the internal capsule with sparing of the periventricular white matter. This case is unusual because of the late onset, protracted clinical course, and MRI findings of demyelination confined to the corticospinal tracts.

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Abstract TP75: Normal Appearing White Matter Integrity and Motor Impairment Severity in Acute Ischemic Stroke

Stroke ◽

10.1161/str.51.suppl_1.tp75 ◽

2020 ◽

Vol 51 (Suppl_1) ◽

Author(s):

Carson Ingo ◽

Chen Lin ◽

James Higgins ◽

Yurany Arevalo ◽

Shyam Prabhakaran

Keyword(s):

Ischemic Stroke ◽

White Matter ◽

Acute Ischemic Stroke ◽

Motor Function ◽

Motor Impairment ◽

Internal Capsule ◽

Posterior Limb ◽

Normal Appearing White Matter ◽

Stroke Group ◽

Microstructural Integrity

Introduction: The effect of white matter hyperintensities (WMH) as measured by fluid-attenuated inversion recovery (FLAIR) magnetic resonance imaging on functional impairment and recovery after ischemic stroke has been investigated thoroughly. However, there has been growing interest to investigate normal-appearing white matter (NAWM) microstructural integrity following ischemic stroke onset with techniques such as diffusion tensor imaging (DTI). Methods: 52 patients with acute ischemic stroke and 36 without stroke were evaluated with a DTI and FLAIR imaging protocol and clinically assessed for severity of motor impairment using the Motricity Index within 72 hours of suspected symptom onset. Results: There were widespread decreases in fractional anisotropy (FA) and increases in mean diffusivity (MD) and radial diffusivity (RD) for the acute stroke group compared to the non-stroke group. As shown in the abstract figure with the blue voxels, there was a significant positive association between FA and motor function and a significant negative association between MD/RD and motor function. The NAWM regions of interest that were most sensitive to the Motricity Index were the anterior/posterior limb of the internal capsule in the infarcted hemisphere and the splenium of the corpus callosum, external capsule, posterior limb/retrolenticular part of the internal capsule, superior longitudinal fasciculus, and cingulum (hippocampus) of the intra-/contralateral hemisphere. Conclusion: The microstructural integrity of NAWM is a significant parameter to identify neural differences not only between those individuals with and without acute ischemic stroke, but also correlated with severity of acute motor impairment.

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The value of MRI examination on bilateral hands including proximal interphalangeal joints for disease assessment in patients with early rheumatoid arthritis: a cross-sectional cohort study

Arthritis Research & Therapy ◽

10.1186/s13075-019-2061-1 ◽

2019 ◽

Vol 21 (1) ◽

Cited By ~ 1

Author(s):

Ying-Qian Mo ◽

Ze-Hong Yang ◽

Jun-Wei Wang ◽

Qian-Hua Li ◽

Xin-Yun Du ◽

...

Keyword(s):

Rheumatoid Arthritis ◽

Bone Erosion ◽

Whole Body ◽

Disease Assessment ◽

Mri Findings ◽

Cross Sectional ◽

Early Ra ◽

Mri Examination ◽

Mri Features ◽

High Prevalence

Abstract Background Bilateral hands including proximal interphalangeal joints (PIPJs) are recommended on physical, X-ray radiographic, or ultrasonographic examination by clinical guidelines of rheumatoid arthritis (RA), but MRI still tends to examine unilateral wrists and/or MCPJs. We aimed to demonstrate the advantages of MRI examination on bilateral hands including PIPJs for disease assessment in early RA patients. Methods Active early RA patients received 3.0T whole-body MRI examination with contrast-enhanced imaging on bilateral wrists, MCPJs, and PIPJs. MRI features were scored referring to the updated RAMRIS. Clinical assessments were conducted on the day of MRI examination. Results The mean time of MRI examination was 24 ± 3 min. MRI bone erosion in MCPJs would be missed-diagnosed in 23% of patients if non-dominant MCPJs were scanned unilaterally, while osteitis in MCPJs would be missed-diagnosed in 16% of patients if dominant MCPJs were scanned unilaterally. MRI synovitis severity was also asymmetric: 21% of patients showing severe synovitis unilaterally in non-dominant MCPJs/PIPJs and other 20% showing severe synovitis unilaterally in dominant MCPJs/PIPJs. Among these early RA patients, MRI tenosynovitis occurred the most frequently in wrist extensor compartment I, while MRI examination on bilateral hands demonstrated no overuse influence present. However, overuse should be considered in dominant PIPJ2, PIPJ4, and IPJ of thumb of which MRI tenosynovitis prevalence was respectively 18%, 17%, or 16% higher than the non-dominant counterparts. Early MRI abnormality of nervus medianus secondary to severe tenosynovitis occurred either in dominant or non-dominant wrists; MRI of unilateral hands would take a risk of missed-diagnosis. Common MRI findings in PIPJs were synovitis and tenosynovitis, respectively in 87% and 69% of patients. MRI tenosynovitis prevalence in IPJ of thumb or PIPJ5 was much higher than the continued wrist flexor compartments. MRI synovitis or tenosynovitis in PIPJs independently increased more than twice probability of joint tenderness (OR = 2.09 or 2.83, both p < 0.001). Conclusions In consideration of asymmetric MRI features in early RA, potential overuse influence for certain tenosynovitis in dominant hands, and high prevalence of MRI findings in PIPJs, MRI examination on bilateral hands including PIPJs is deserved for disease assessment in early RA patients.

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Microsurgical Anatomy of the White Matter Tracts in Hemispherotomy

Operative Neurosurgery ◽

10.1227/neu.0000000000000288 ◽

2014 ◽

Vol 10 (2) ◽

pp. 305-324 ◽

Cited By ~ 15

Author(s):

Baris Kucukyuruk ◽

Kaan Yagmurlu ◽

Necmettin Tanriover ◽

Mustafa Uzan ◽

Albert L. Rhoton

Keyword(s):

White Matter ◽

Anterior Commissure ◽

Posterior Part ◽

Internal Capsule ◽

Epileptic Seizures ◽

Microsurgical Anatomy ◽

Subcortical Structures ◽

Posterior Edge ◽

White Matter Tracts ◽

Posterior Limb

Abstract BACKGROUND: Hemispherotomy is a surgical procedure performed for refractory epileptic seizures due to wide hemispheric damage. OBJECTIVE: To describe the microanatomy of the white matter tracts transected in a hemispherotomy and the relationship of the surgical landmarks used during the intraventricular callosotomy. METHODS: The cortical and subcortical structures were examined in 32 hemispheres. RESULTS: Incision of the temporal stem along the inferior limiting sulcus crosses the insulo-opercular fibers, uncinate, inferior occipitofrontal and middle longitudinal fasciculi, anterior commissure, and optic and auditory radiations. The incision along the superior limiting sulcus transects insulo-opercular fibers and the genu and posterior limb of internal capsule. The incision along the anterior limiting sulcus crosses the insulo-opercular fibers, anterior limb of the internal capsule, anterior commissure, and the anterior thalamic bundle. The disconnection of the posterior part of the corpus callosum may be incomplete if the point at which the last cortical branch of the anterior cerebral artery (ACA) turns upward and disappears from the view through the intraventricular exposure is used as the landmark for estimating the posterior extent of the callosotomy. This ACA branch turns upward before reaching the posterior edge of the splenium in 85% of hemispheres. The falx, followed to the posterior edge of the splenium, is a more reliable landmark for completing the posterior part of an intraventricular callosotomy. CONCLUSION: The fiber tracts disconnected in hemispherotomy were reviewed. The falx is a more reliable guide than the ACA in completing the posterior part of the intraventricular callosotomy.

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Bundle-Specific Axon Diameter Index as a New Contrast to Differentiate White Matter Tracts

Frontiers in Neuroscience ◽

10.3389/fnins.2021.646034 ◽

2021 ◽

Vol 15 ◽

Author(s):

Muhamed Barakovic ◽

Gabriel Girard ◽

Simona Schiavi ◽

David Romascano ◽

Maxime Descoteaux ◽

...

Keyword(s):

White Matter ◽

Internal Capsule ◽

Mean Value ◽

Axon Diameter ◽

Posterior Limb ◽

Weighted Magnetic Resonance Imaging ◽

The Central Nervous System ◽

Index Value ◽

White Matter Connectivity

In the central nervous system of primates, several pathways are characterized by different spectra of axon diameters. In vivo methods, based on diffusion-weighted magnetic resonance imaging, can provide axon diameter index estimates non-invasively. However, such methods report voxel-wise estimates, which vary from voxel-to-voxel for the same white matter bundle due to partial volume contributions from other pathways having different microstructure properties. Here, we propose a novel microstructure-informed tractography approach, COMMITAxSize, to resolve axon diameter index estimates at the streamline level, thus making the estimates invariant along trajectories. Compared to previously proposed voxel-wise methods, our formulation allows the estimation of a distinct axon diameter index value for each streamline, directly, furnishing a complementary measure to the existing calculation of the mean value along the bundle. We demonstrate the favourable performance of our approach comparing our estimates with existing histologically-derived measurements performed in the corpus callosum and the posterior limb of the internal capsule. Overall, our method provides a more robust estimation of the axon diameter index of pathways by jointly estimating the microstructure properties of the tissue and the macroscopic organisation of the white matter connectivity.

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Patients With Chronic Migraine Without History of Medication Overuse Are Characterized by a Peculiar White Matter Fiber Bundle Profile

10.21203/rs.3.rs-33717/v1 ◽

2020 ◽

Author(s):

Gianluca Coppola ◽

Antonio Di Renzo ◽

Emanuele Tinelli ◽

Barbara Petolicchio ◽

Cherubino Di Lorenzo ◽

...

Keyword(s):

White Matter ◽

Chronic Migraine ◽

Diffusion Tensor ◽

Internal Capsule ◽

Posterior Limb ◽

History Of ◽

The Right ◽

Normal White Matter ◽

Microstructural Integrity ◽

The Brain

Abstract Background: We investigated intracerebral fiber bundles using a tract-based spatial statistics (TBSS) analysis of diffusion tensor imaging (DTI) datato investigate microstructural integrity in patients with episodic (MO) and chronic migraine (CM).Methods: We performed DTI in 19 patients with MO within interictal periods, 18 patients with CM without any history of drug abuse, and 18 healthy controls (HCs) using a 3T magnetic resonance imaging scanner. We calculated diffusion metrics, including fractional anisotropy (FA), axial diffusion (AD), radial diffusion (RD), and mean diffusion (MD).Results: TBSS revealed no significant differences in the FA, MD, RD, and AD maps between the MO and HC groups. In comparison to the HC group, theCM group exhibited widespread increased RD (bilateral superior [SCR] and posterior corona radiata [PCR], bilateral genu of the corpus callosum [CC], bilateral posterior limb of internal capsule [IC], bilateral superior longitudinal fasciculus [LF]) and MD values (tracts of the right SCR and PCR, right superior LF, and right splenium of the CC). In comparison to theMO group, theCM group showed decreased FA (bilateral SCR and PCR, bilateral body of CC, right superior LF, right forceps minor) and increased MD values (bilateral SCR and right PCR, right body of CC, right superior LF, right splenium of CC, and right posterior limb of IC). Conclusion: Our results suggest that chronic migraine can be associated withthe widespread disruption of normal white matter integrity in the brain.

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Magnetic resonance imaging and magnetic resonance venography features in heat stroke: a case report

10.21203/rs.2.1866/v3 ◽

2019 ◽

Author(s):

Lizhi Cao ◽

Juan Wang ◽

Yaxuan Gao ◽

Yumei Liang ◽

Jinhua Yan ◽

...

Keyword(s):

Magnetic Resonance Imaging ◽

White Matter ◽

Magnetic Resonance ◽

Heat Stroke ◽

Internal Capsule ◽

Subcortical White Matter ◽

Magnetic Resonance Venography ◽

Resonance Imaging ◽

Posterior Limb ◽

External Capsule

Abstract Background: Heat stroke (HS) is a critical illness that can cause multiple organ dysfunction, including damage to the central nervous system (CNS), which can be life-threatening in severe cases. Brain lesions in patients with HS who present with CNS damage have been rarely reported before, and they usually vary in different cases, hence, patients with such lesions may present a clinical challenge in terms of diagnosis and management. Cerebral venous thrombosis (CVT) is a rare cause of stroke that mostly affects young individuals and children. The pathogenesis of brain damage caused by HS is complex, and CVT may be involved in the pathogenesis of HS with CNS damage. In this manuscript, we have reported a case of a patient with HS having CVT with symmetrical lesions in the bilateral putamen, posterior limb of the internal capsule, external capsule, insular lobe, and subcortical white matter in the brain. Case presentation: We encountered a 48-year-old man who presented with HS in the summer season. During admission, he had a high body temperature and was in coma and shock. Then, he developed rhabdomyolysis syndrome, acute kidney and liver damage, electrolyte imbalance, and acid–base balance disorders, and his D-dimer level was elevated. After several days of anti-shock treatment, the patient’s level of consciousness improved. However, he experienced a decline in vision. Cerebral magnetic resonance imaging (MRI) showed symmetrical lesions in the bilateral posterior limb of the internal capsule, putamen, external capsule, insula, and subcortical white matter, and cerebral magnetic resonance venography (MRV) showed the development of CVT. Therefore, anti-coagulation treatment was provided. After timely clinical intervention, the symptoms of the patient gradually improved. Conclusions: This case showed that HS can cause CVT. Therefore, cerebral MRI findings in HS must be assessed; in addition, early MRV can help in the diagnosis of the disease, which can effectively improve prognosis.

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MRI and MRV features of a patient with Heat Stroke: a case report

10.21203/rs.2.1866/v1 ◽

2019 ◽

Author(s):

Lizhi Cao ◽

Juan Wang ◽

Yaxuan Gao ◽

Yumei Liang ◽

Jinhua Yan ◽

...

Keyword(s):

White Matter ◽

Magnetic Resonance ◽

Venous Thrombosis ◽

Cerebral Venous Thrombosis ◽

Heat Stroke ◽

Internal Capsule ◽

Subcortical White Matter ◽

Posterior Limb ◽

External Capsule ◽

The Brain

Abstract Background Heat stroke (HS) is a critical illness that can cause multiple organ dysfunction including damage to the central nervous system (CNS), which can be life-threatening in severe cases. The brain image lesions of HS patient with CNS damage has been rarely reported before and usually variable in different cases, causing confusing to doctors when encounter these patients in the clinic. Cerebral venous thrombosis (CVT) is a rare cause of stroke that mostly affects young people and children. The pathogenesis of brain damage caused by HS is complex, CVT may be involved in the pathogenesis of HS with CNS damage. In this manuscript, we report a case of HS with CVT with symmetrical lesions in the bilateral putamen,posterior limb of internal capsule,external capsule, insula lobe, and subcortical white matter inside the brain. Case presentation We introduced a 48-year-old man who suffered from HS in the hot summer. At the time of admission, he showed high body temperature, coma and shock. Later, he had laboratory evidence of rhabdomyolysis syndrome, acute kidney and liver damage, electrolyte imbalance, acid-base balance disorders, and high D-dimer levels. After several days of anti-shock treatment, his level of consciousness has improved but his vision has declined. The cerebral magnetic resonance imaging (MRI) showed symmetrical lesions of the bilateral posterior limb of internal capsule,putamen,external capsule and insula, and subcortical white matter, and cerebral magnetic resonance venography (MRV) showed the formation of deep cerebral venous thrombosis (DCVT). Therefore, the anti-coagulation treatment was given to patient. After timely clinical intervention, the symptom of the patient was gradually improved. Conclusions The case shows that HS can cause CVT. Therefore, we believe that when we need to identify the cerebral MRI findings of HS, early MRV can greatly help the diagnosis of the disease, and can effectively improve the prognosis.

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Diffusion tensor imaging in neonatal encephalopathy: a systematic review

Archives of Disease in Childhood - Fetal and Neonatal Edition ◽

10.1136/archdischild-2019-318025 ◽

2019 ◽

Vol 105 (5) ◽

pp. 480-488 ◽

Cited By ~ 1

Author(s):

Megan Dibble ◽

Mary Isabel O'Dea ◽

Tim Hurley ◽

Angela Byrne ◽

Gabrielle Colleran ◽

...

Keyword(s):

Diffusion Tensor Imaging ◽

White Matter ◽

Diffusion Tensor ◽

Neurodevelopmental Outcome ◽

Internal Capsule ◽

Adverse Outcomes ◽

Restricted Diffusion ◽

Neonatal Encephalopathy ◽

White Matter Tracts ◽

Posterior Limb

Background and objectiveDiffusion tensor imaging (DTI) during the first few days of life can be used to assess brain injury in neonates with neonatal encephalopathy (NE) for outcome prediction. The goal of this review was to identify specific white matter tracts of interest that can be quantified by DTI as being altered in neonates with this condition, and to investigate its potential prognostic ability.MethodsSearches of Medline and the Cochrane Database of Systematic Reviews were conducted to identify studies with diffusion data collected in term-born neonates with NE.Results19 studies were included which described restricted diffusion in encephalopathic neonates as compared with healthy controls, with the posterior limb of the internal capsule and the genu and splenium of the corpus callosum identified as particular regions of interest. Restricted diffusion was related to adverse outcomes in the studies that conducted a follow-up of these infants.ConclusionsObtaining diffusion measures in these key white matter tracts early in life before pseudonormalisation can occur can not only identify the extent of the damage but also can be used to examine the effectiveness of treatment and to predict neurodevelopmental outcome.

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