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Introduction Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) is caused by a recessive mutation in the DARS2 gene and can be recognized by specific magnetic resonance imaging patterns. Case report A girl who developed leg tremors at age 4 years was diagnosed at age 17 years with LBSL -after evolution of ataxia and sensory loss. Examination at age 29 revealed mild spastic gait, ataxia, and sensory loss, and she did not require assistance to walk. Conclusion This report illustrates the clinical and magnetic resonance imaging characteristics of a slowly progressive long-term course of childhood-onset LBSL.

Highlights. • Severely ill COVID-19 patients failing to regain consciousness or showing agitation during the ventilation weaning period require thorough neurological assessment. • Brain magnetic resonance imaging and cerebrospinal fluid examination are required to determine the extent of central nervous system involvement. • Neurological involvement during COVID-19 infection can be immune mediated. • Plasmapheresis can be beneficial in COVID-19 patients with autoimmune encephalitis., Severe SARS-CoV-2 (COVID-19) infection has the potential for a high mortality rate. In this paper, we report the results of plasmapheresis treatment in a series of severely ill patients with COVID-19–related autoimmune meningoencephalitis in the Intensive Care Unit ICU.

Acute neck pain can have non-vascular and vascular causes. Some patients present with distinct vascular and perivascular changes on imaging at the site of tenderness. This study aimed to evaluate the imaging findings of transient perivascular inflammation of the carotid artery (TIPIC) syndrome with an emphasis on vessel wall imaging using 3‑Tesla (3-T) high-resolution (HR) magnetic resonance imaging (MRI). Clinical data along with diagnostic and follow-up imaging of patients presenting to these hospitals with acute neck pain/tenderness and at least 1 imaging study using color Doppler ultrasound (CDU) and/or MRI including vessel wall imaging from September 2013 through September 2017 were retrospectively evaluated. A total of 15 patients with no other underlying cause of pain, findings meeting the imaging criteria for TIPIC syndrome and clinical recovery (spontaneous or with treatment) were included in the study. The mean patient age was 43.2 years. With CDU and precontrast MRI, perivascular inflammation (PVI) of the involved artery segment was evident in all patients. Contrast enhancement of the adventitia and PVI were noted on postcontrast HR vessel wall MRI in all patients. Of the patients five had co-existing plaques at the site of tenderness. Follow-up imaging demonstrated pronounced regression or complete resolution of the findings. Imaging is useful for the establishment of TIPIC syndrome diagnosis and to rule out other conditions. The use of CDU is usually sufficient for diagnosis and follow-up but in clinically doubtful and complicated cases, vessel wall imaging with HR-MRI is very valuable. Thorough knowledge of this entity among radiologists enables a prompt diagnosis, which accelerates the clinical management.

Aim The central tegmental tract hyperintensities (CTTH) have been found in many different pediatric neurological conditions. There is only scarce data about the value of this radiological phenomenon. In this study we aimed to show the neurological conditions associated with this radiological finding. Materials and methods We performed a retrospective analysis of all pediatric brain MRI’s between 2013 and 2015. After finding those patients with CTTH, we evaluated them in the pediatric neurology clinic. Results There were 41 out of 1464 brain MRI’s with CTTH with 2.8% prevalence. Thirty four patients (23 male, age range 3 months–98 months) were available for evaluation. CTTH were present in mainly younger age group. There were many different neurological conditions associated with CTTH. These included brain tumors, epilepsy, developmental delay, metabolic disorders and genetic syndromes. Conclusion CTTH is found in many different pediatric neurological conditions. Further neuropathological and prospective MRI and clinical studies are needed to better understand this interesting radiological finding.

Diagnosis of cortical vein thrombosis (CVT) on the basis of clot hyperintensity on diffusion-weighted imaging (DWI) has been reported as limited. Our aim was to evaluate different DWI findings of CVT either in isolated form or in combination with sinus thrombosis. In this review-board-approved study, patients with the diagnosis of CVT on magnetic resonance venography (MRV) between 2004 and 2011 were evaluated, and 13 patients with 26 CVT (3 isolated and 23 combined CVT) sites were recruited. The evaluated DWI findings were as follows: (1) the hyperintense clot signal (CS) itself, and (2) clot susceptibility signal (CSS) that appears next to the CVT. Two blinded radiologists evaluated the data. Kappa (κ) statistics was applied for interobserver agreement. Both readers reported CS within the vascular clot itself in 6 of 26 (23 %) CVT sites on DWI. CSS was reported in 16 of 26 (61.5 %) CVT sites by reader 1, and in 14 of 26 (54 %) of the CVT sites by reader 2. At four CVT sites with thrombosed veins on MRV, both readers reported no DWI findings. When both CS and CSS were evaluated together, reader 1 reported a positive DWI finding in 22 of 26 (84 %) of the CVT sites, and reader 2 reported in 20 of 26 (79 %) of the sites. κ Statistics showed a very good agreement (κ: 0.87). Besides the hyperintense CS, with additional evaluation of the presence of CSS, DWI can provide an additional clue in CVT patients and may suggest its diagnosis, which is important in clinically unsuspected patients.

The aim of this study was to evaluate the computed tomography (CT) and magnetic resonance imaging findings (MRI) of asymptomatic remote cerebellar hemorrhage (RCH) at the preoperative, early postoperative, and postoperative period. A total of 983 consecutive adult patients who underwent supratentorial craniotomies were included in the study. The ethics committee approved the study. The patient's clinical records and radiological examinations were retrospectively analyzed. All patients had preoperative CT and MRI examinations, immediate postoperative CT, and postoperative MRI within 24 h. The patients with the radiological diagnosis of RCH were followed up to 5 years. Eight asymptomatic RCH cases were recruited. The prevalence of asymptomatic RCH was 0.8% in our series. RCH was unilateral in two patients and bilateral in six patients. The postoperative CT was positive in two cases. The hemorrhage presented on MRI as folial linear hypointensities in six cases. In three cases (including one mixed case), punctate hypointense spots were identified at the superior cerebellar folia. Diffuse hemorrhage in the cerebellar tonsil, subarachnoid hemorrhage, and hemorrhage in the cerebellar vermis and the ventricles were also seen. The MRI findings were stable up to 5 years. The prevalence of asymptomatic RCH is higher than previously reported. Immediate postoperative CT is usually unremarkable; however, MRI demonstrates various hemorrhagic patterns at the cerebellum other than classical "zebra sign". This condition is self-limiting and no further investigation or follow-up study is required. In the proper clinical setting, the awareness of different hemorrhagic patterns in patients with RCH would prevent unnecessary investigations.

To investigate the primary motor cortex (PMC) concerning T2 shortening on T2 echo-planar imaging (EPI-T2) and the double-layer sign on diffusion-weighted imaging (DWI), and also to measure its apparent diffusion coefficient (ADC).3-T MR DWI was performed in 134 adult volunteers and 64 patients. T2 shortening was graded as hypointense or isointense compared with the signal of the superior frontal cortex (SFC). The double-layer sign of the PMC was graded as present or absent. Both findings (T2 shortening and double-layer sign) were evaluated independently by two authors. ADC of the PMC and the SFC were calculated using manually selected ROIs.T2 shortening was found in 131 adults and 62 patients by author 1 and in 132 adults and 61 patients by author 2 (kappa = 0.96 and 0.91). The double-layer sign was found in 131 adults and 61 patients by author 1 and in 127 adults and 58 patients by author 2 (kappa = 0.94 and 0.91). ADC values of the PMC and the SFC were different for all subjects (p0.01).T2 shortening and/or the double-layer sign on 3-T MR can be used to locate the PMC. The difference in ADC values between PMC and SFC is a distinguishing feature.

BACKGROUND AND PURPOSE: 3D-constructive interference in steady state (3D-CISS) sequence has been used to assess the CSF pathways. The aim of this study was to investigate the additive value of 3D-CISS compared with conventional sequences in the diagnosis of obstructive membranes in hydrocephalus. MATERIALS AND METHODS: A total of 134 patients with hydrocephalus underwent MR imaging examination with a 3T unit consisting of turbo spin-echo, 3D-CISS, and cine phase-contrast (cine PC) sequences. 3D-CISS was used to assess obstructive membranes in CSF pathways compared with other sequences. Cine PC, follow-up imaging, and surgical findings were used to confirm obstructive membranes. RESULTS: Comparing the number of noncommunicating cases by using the conventional and 3D-CISS images, we found 26 new cases (19.4%) of 134 cases that were previously misdiagnosed as communicating hydrocephalus by conventional images. 3D-CISS sequence identified obstructive membranes invisible in other sequences, which facilitated selection of neuroendoscopy in the treatment of 31 patients (23.1%) in total who would have been otherwise treated with shunt insertion. These patients included 26 newly diagnosed noncommunicating cases after demonstration of intraventricular and/or fourth ventricular outlet membranes and 5 cases of communicating hydrocephalus with obstructing cisternal membranes. There were obstructions of the foramina of Luschka in 22 of 26 newly found noncommunicating cases. CONCLUSIONS: Conventional sequences are insensitive to obstructive membranes in CSF pathways, especially in the fourth ventricular exit foramina and the basal cisterns. 3D-CISS sequence, revealing these obstructive membranes, can alter patient treatment and prognosis.

Tuberous sclerosis complex is an autosomal dominant disorder that often causes refractory seizures. The presence of multiple lesions makes it difficult to identify a single lesion responsible for the epilepsy. Our purpose is to assess the single-voxel proton spectroscopic findings of the tubers in 11 children with tuberous sclerosis complex. Prior to age 4 years, all of the patients had presented with epileptic seizures and multiple bilateral tubers in magnetic resonance images. Single-voxel proton spectroscopy was performed from the tubers especially showing epileptogenic activity using both the long and short echo time and in 14 controls. The results were analyzed using the Mann-Whitney U-test. Compared with the control group, the spectroscopic findings of tubers were characterized by decreased N-acetylaspartate to creatine ratios (1.43 ± 0.33 ; P < .001) in both the long and short echo time spectra, increased choline to creatine ratios (0.91 ± 0.082; P < .05), and myo-inositol to creatine ratios (0.97 ± 0.19; P < .01) in the short echo time spectra. A lactate peak was detected in the regions corresponding to an epileptic focus on electroencephalography in six patients. Single-voxel proton spectroscopy could be a useful noninvasive method to evaluate epileptogenic tubers. ( J Child Neurol 2005;20:517-522).

Subependymal giant cell astrocytomas are benign tumors that constitute one of the primary features of tuberous sclerosis. Two infants with tuberous sclerosis had very unusual subependymal giant cell astrocytomas, confirmed on biopsy in one of the infants. In both cases, contrast-enhanced cranial magnetic resonance imaging suggested a calcified intra-axial mass with diffuse basal ganglia involvement extending into the lateral ventricle. Computed tomography confirmed calcification in both cases. The first patient had right temporal lobectomy for intractable epilepsy. Biopsy of the basal ganglia lesion in that case suggested subependymal giant cell astrocytoma. In infants, subependymal giant cell astrocytomas can present with unusual morphology and may feature diffuse basal ganglia involvement and severe calcification.

3-Hydroxy-3-Methylglutaryl coenzyme A lyase (HMG-CoA) deficiency is a rare inborn error of leucine catabolism. The disease is characterized by recurrent episodes of metabolic acidosis, hyperammonemia without ketosis, hypoglycemia, lethargy, hepatomegaly, and seizures. This study has evaluated the magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) findings of three patients with HMG-CoA deficiency. The common findings on all of the MRI scans were multiple, coalescent, marked lesions in periventricular white matter and arcuate fibers, most prominently in frontal or periatrial regions that were superimposed on diffuse, slightly hyperintense subcortical white matter signal. Involvement of the caudate nucleus and the dentate nucleus were observed in the reported patients. MRS studies by both STEAM and PRESS spectra of all patients revealed a decrease in N-acetylaspartate and elevation in both myoinositol and choline. A pathologic peak at 1.33 ppm, which is compatible with lactate, and a particular peak at 2.42 ppm in all patients were also found. The combination of both MRI and MRS findings could be considered as being specific in patients with HMG-CoA lyase deficiency.

Purpose: To evaluate the consistency of fat in the high intensity signals of the normal neurohypophysis and to differentiate the high signal of posterior pituitary from that of dorsum sella. Sagittal SE T1-weighted images with frequency encoding in the horizontal direction were used in order to differentiate the high signal of posterior pituitary and dorsum sella by the vertically-oriented chemical shift artifact. Material and Methods: The sellae of 46 normal volunteers were imaged with a commercially available fat suppression technique and SE sequences with frequency encoding in vertical (25 cases) and horizontal (21 cases) axes. Results: The high signal intensity was absent in 9% of the normal volunteers with no predilection to any specific age group. None of the cases with posterior pituitary high intensity signals showed suppression of the signal with fat suppression technique. A fat suppression technique was helpful in documenting the hyperintensity in 7% of normal volunteers. Nineteen of the 21 (90%) cases with high signal intensity were detected by routine SE T1-weighted images, whereas 18 of the 19 (95%) cases were detected by imaging with frequency encoding in the horizontal direction. Conclusion: The high signal does not indicate the presence of fat. Fat suppression technique and a horizontal direction of frequency encoding help in differentiating the high signal of the neurohypophysis from that of dorsum sella.

The goal of surgery in high-grade gliomas is to maximize the resection of contrast-enhancing tumor without causing additional neurological deficits. Intraoperative MRI improves surgical results. However, when using contrast material intraoperatively, it may be difficult to differentiate between surgically induced enhancement and residual tumor. The purpose of this study was to assess the usefulness of intraoperative dynamic contrast-enhanced T1-weighted MRI to guide this differential diagnosis and test it against tissue histopathology.Preoperative and intraoperative dynamic contrast-enhanced MRI was performed in 21 patients with histopathologically confirmed WHO Grade IV gliomas using intraoperative 3-T MRI. Standardized regions of interest (ROIs) were placed manually at 2 separate contrast-enhancing areas at the resection border for each patient. Time-intensity curves (TICs) were generated for each ROI. All ROIs were biopsied and the TIC types were compared with histopathological results. Pharmacokinetic modeling was performed in the last 10 patients to confirm nonparametric TIC analysis findings.Of the 42 manually selected ROIs in 21 patients, 25 (59.5%) contained solid tumor tissue and 17 (40.5%) retained the brain parenchymal architecture but contained infiltrating tumor cells. Time-intensity curves generated from residual contrast-enhancing tumor and their preoperative counterparts were comparable and showed a quick and persistently increasing slope ("climbing type"). All 17 TICs obtained from regions that did not contain solid tumor tissue were undulating and low in amplitude, compared with those obtained from residual tumors ("low-amplitude type"). Pharmacokinetic findings using the transfer constant, extravascular extracellular volume fraction, rate constant, and initial area under the curve parameters were significantly different for the tumor mass, nontumoral regions, and surgically induced contrast-enhancing areas.Intraoperative dynamic contrast-enhanced MRI provides quick, reproducible, high-quality, and simply interpreted dynamic MR images in the intraoperative setting and can aid in differentiating surgically induced enhancement from residual tumor.

Object The authors had previously shown that 3-T intraoperative MRI (ioMRI) detects residual tumor tissue during low-grade glioma and that it helps to increase the extent of resection. In a proportion of their cases, however, the ioMRI disclosed T2-hyperintense areas at the tumor resection border after the initial resection attempt and prompted a differential diagnosis between residual tumor and nontumoral changes. To guide this differential diagnosis the authors used intraoperative long-TE single-voxel proton MR spectroscopy (ioMRS) and tested the correlation of these findings with findings from pathological examination of resected tissue. Methods Patients who were undergoing surgery for hemispheric or insular WHO Grade II gliomas and were found to have T2 changes around the resection cavity at the initial ioMRI were prospectively examined with ioMRS and biopsies were taken from corresponding localizations. In 14 consecutive patients, the ioMRS diagnosis in 20 voxels of interest was tested against the histopathological diagnosis. Intraoperative diffusion-weighted imaging (ioDWI) was also performed, as a part of the routine imaging, to rule out surgically induced changes, which could also appear as T2 hyperintensity. Results Presence of tumor was documented in 14 (70%) of the 20 T2-hyperintense areas by histopathological examination. The sensitivity of ioMRS for identifying residual tumor was 85.7%, the specificity was 100%, the positive predictive value was 100%, and the negative predictive value was 75%. The specificity of ioDWI for surgically induced changes was high (100%), but the sensitivity was only 60%. Conclusions This is the first clinical series to indicate that ioMRS can be used to differentiate residual tumor from nontumoral changes around the resection cavity, with high sensitivity and specificity.

Ubiquitin C-terminal hydrolase-L1 (UCHL1), a neuron-specific de-ubiquitinating enzyme, is one of the most abundant proteins in the brain. We describe three siblings from a consanguineous union with a previously unreported early-onset progressive neurodegenerative syndrome featuring childhood onset blindness, cerebellar ataxia, nystagmus, dorsal column dysfuction, and spasticity with upper motor neuron dysfunction. Through homozygosity mapping of the affected individuals followed by whole-exome sequencing of the index case, we identified a previously undescribed homozygous missense mutation within the ubiquitin binding domain of UCHL1 (UCHL1 GLU7ALA ), shared by all affected subjects. As demonstrated by isothermal titration calorimetry, purified UCHL1 GLU7ALA , compared with WT, exhibited at least sevenfold reduced affinity for ubiquitin. In vitro, the mutation led to a near complete loss of UCHL1 hydrolase activity. The GLU7ALA variant is predicted to interfere with the substrate binding by restricting the proper positioning of the substrate for tunneling underneath the cross-over loop spanning the catalytic cleft of UCHL1. This interference with substrate binding, combined with near complete loss of hydrolase activity, resulted in a >100-fold reduction in the efficiency of UCHL1 GLU7ALA relative to WT. These findings demonstrate a broad requirement of UCHL1 in the maintenance of the nervous system.

Prolonged status epilepticus may directly cause selective neuronal necrosis due to excitotoxic mechanisms, as observed in experimental models and described in case reports. A 36-year-old woman presented with right hemiplegia and aphasia following a generalised tonic-clonic status epilepticus of two hours duration. Accompanying serial MRI with advanced imaging techniques, EEG and histopathology of the cortical tissue of the patient were all compatible with excitotoxic neuronal necrosis. In this histopathologically-proven rare case of status epilepticus-induced excitotoxic neuronal injury, the observation of delayed cortical laminar necrosis on MRI, together with paroxysmal lateralised epileptiform discharges on the EEG, suggests that these changes may be an early sign of impending and ongoing excitotoxic neuronal injury and delayed cell death caused by glutamate release due to excessive neuronal firing in status epilepticus.

To investigate the association of the diffusion-weighted MR imaging characteristics of fetal preCG and gestational age. Forty-four fetuses with normal brain MRI findings were included in the study. Gestational ages ranged from 18 to 36 weeks (mean 25.2 weeks). All exams were performed with a 1.5-T scanner using a body array coil during free maternal breathing without sedation. Precentral gyrus was defined as the hyperintense strip anterior to the central sulcus, on the superior section of axial brain images at the level of superior frontal cortex. The presence of preCG hyperintensity was noted as observed/subtle/not observed at different b values (500, 1000 s/mm(2)) and on apparent diffusion coefficient (ADC) maps and compared to the imaging characteristics of the superior frontal cortex. Precentral gyrus was first detected at 25 weeks as a hyperintense strip on DWI and hypointense strip on ADC maps. Display of preCG b 1000 s/mm(2) images were better than b 500 s/mm(2). Between 25 and 27 weeks, in 40% of fetuses preCG was observed on one hemisphere, and it was evident bilaterally in 60% of cases. Starting from the 28th week, preCG was observed on both hemispheres in 100% of cases. Diffusion weighted imaging helps better understanding of the evolution of fetal preCG. The hyperintense preCG strip starts to appear at 25 weeks, and when interpreting fetal DWI after 28 weeks this may be a sign to be sought for in all fetuses and an indicator for normal development.

Background The location of the primary motor cortex can be detected in healthy adults using the findings of ‘T2 hypointensity’ and the ‘double layer sign’ on 3 T diffusion-weighted imaging. The aim of this study was to assess whether ischemic involvement of the primary motor cortex can be identified on 3 T diffusion-weighted imaging within six-hours after stroke onset and to evaluate whether this finding could predict clinical outcome three-months after ischemic stroke. Methods Sixty-five patients who had paralysis and ischemia of the anterior circulation underwent 3 T magnetic resonance imaging within six-hours of symptom onset. Follow-up MRI was obtained at 72 h. Anatomic localization and ischemic involvement of the primary motor cortex were evaluated on diffusion-weighted imaging by two investigators. Ischemic involvement on the primary motor cortex was classified into three grades. Ischemic lesion volumes were measured. We compared the favorable outcomes at three-months between subjects with and without ischemic involvement on the primary motor cortex using the NIHSS and modified Rankin Scale. Results Ischemic involvement on the primary motor cortex was identified in 52% of patients. Interrater agreement coefficients were 0·93 for the identification of ischemic involvement of primary motor cortex. As defined by scores on the modified Rankin Scale, among the patients with ischemic involvement of the primary motor cortex were worse than the patients without ischemic involvement of the primary motor cortex ( P = 0·01). The mean ischemic lesion volume at baseline diffusion-weighted imaging was 38·7 ± 41·7 cm3 and was 89·8 ± 93·6 cm3 at follow-up T2-WI. Ischemic involvement on the primary motor cortex (odds ratio: 14·7) was a determinant for worse outcome. Conclusions 3T diffusion-weighted imaging can identify ischemic involvement on the primary motor cortex and may provide useful information for predicting outcome during the hyperacute stage. Ischemic involvement on the primary motor cortex has a significant negative impact on recovery.

Background: Standard T2-weighted (T2W) magnetic resonance imaging (MRI) is a necessary component of routine breast MRI. However, breast MRI suffers from minor subject movements, which degrade the image quality. BLADE acquisition MRI is a promising motion degradation method currently used in brain imaging. Purpose: To compare T2W BLADE acquisition breast MR images with routine T2W images in the evaluation of motion artifacts and overall image quality. Material and Methods: MRI was performed with a 1.5 T system on 25 volunteers and 25 consecutive patients with identical imaging parameters for both MRI sequences (TR 5240 ms, TE 112–108 ms, acquisition 1, spatial resolution 0.9×0.9× 4 mm). Motion and flow artifacts and pectoral muscle and lesion contour delineations were assessed. Signal to noise ratios (SNRs) of images and contrast to noise ratios (CNRs) of the incidental lesions were calculated. The results were evaluated with the Wilcoxon signed-ranks test. Results: Of the 50 patients, 44 were included in the analysis (mean age 42.1 years). Motion artifacts were prominent in 48% cases on routine T2W and in only 2% of BLADE cases. The SNR values of BLADE images were significantly higher than routine T2W ( P Conclusion: The performance of BLADE is superior to routine T2W images in eliminating motion artifacts, provides better SNRs, shows detailed pectoral muscle contours, and may be the sequence of choice.

WOS: 000281616300034, PubMed ID: 20729831, The development of the human cerebral cortex is an orchestrated process involving the generation of neural progenitors in the periventricular germinal zones, cell proliferation characterized by symmetric and asymmetric mitoses, followed by migration of post-mitotic neurons to their final destinations in six highly ordered, functionally specialized layers(1,2). An understanding of the molecular mechanisms guiding these intricate processes is in its infancy, substantially driven by the discovery of rare mutations that cause malformations of cortical development(3-6). Mapping of disease loci in putative Mendelian forms of malformations of cortical development has been hindered by marked locus heterogeneity, small kindred sizes and diagnostic classifications that may not reflect molecular pathogenesis. Here we demonstrate the use of whole-exome sequencing to overcome these obstacles by identifying recessive mutations in WD repeat domain 62 (WDR62) as the cause of a wide spectrum of severe cerebral cortical malformations including microcephaly, pachygyria with cortical thickening as well as hypoplasia of the corpus callosum. Some patients with mutations in WDR62 had evidence of additional abnormalities including lissencephaly, schizencephaly, polymicrogyria and, in one instance, cerebellar hypoplasia, all traits traditionally regarded as distinct entities. In mice and humans, WDR62 transcripts and protein are enriched in neural progenitors within the ventricular and subventricular zones. Expression of WDR62 in the neocortex is transient, spanning the period of embryonic neurogenesis. Unlike other known microcephaly genes, WDR62 does not apparently associate with centrosomes and is predominantly nuclear in localization. These findings unify previously disparate aspects of cerebral cortical development and highlight the use of whole-exome sequencing to identify disease loci in settings in which traditional methods have proved challenging., Yale Program on Neurogenetics; Yale Center for Human Genetics and Genomics; National Institutes of HealthUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USA [RC2 NS070477, UL1 RR024139NIH, UO1MH081896]; National Institutes of Health Neuroscience Microarray ConsortiumUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USA [U24 NS051869-02S1], We are indebted to the patients and families who have contributed to this study. We thank J. Noonan for expert advice and C. Camputaro for her help with three-dimensional reconstruction of the magnetic resonance images. This study was supported by the Yale Program on Neurogenetics, the Yale Center for Human Genetics and Genomics, and National Institutes of Health grants RC2 NS070477 (to M.G.), UL1 RR024139NIH (Yale Clinical and Translational Science Award) and UO1MH081896 (to N.S.). SNP genotyping was supported in part by a National Institutes of Health Neuroscience Microarray Consortium award U24 NS051869-02S1 (to S.M.). R.P.L. is an investigator of the Howard Hughes Medical Institute.

The aim of the study is to evaluate the efficiency of turbo spin-echo (TSE), three-dimensional constructive interference in the steady state (3D CISS) and cine phase contrast (Cine PC) sequences in determining flow through the endoscopic third ventriculostomy (ETV) fenestration, and to determine the effect of various TSE sequence parameters.The study was approved by our institutional review board and informed consent from all patients was obtained. Two groups of patients were included: group I (24 patients with good clinical outcome after ETV) and group II (22 patients with hydrocephalus evaluated preoperatively). The imaging protocol for both groups was identical. TSE T2 with various sequence parameters and imaging planes, and 3D CISS, followed by cine PC were obtained. Flow void was graded as four-point scales. The sensitivity, specificity, accuracy, positive and negative predictive values of sequences were calculated.Bidirectional flow through the fenestration was detected in all group I patients by cine PC. Stroke volumes through the fenestration in group I ranged 10-160.8 ml/min. There was no correlation between the presence of reversed flow and flow void grading. Also, there was no correlation between the stroke volumes and flow void grading. The sensitivity of 3D CISS was low, and 2 mm sagittal TSE T2, nearly equal to cine PC, provided best result.Cine PC and TSE T2 both have high confidence in the assessment of the flow through the fenestration. But, sequence parameters significantly affect the efficiency of TSE T2.

The aim of the study is to analyze diffusion tensor imaging (DTI) characteristics of the Guillain-Mollaret triangle (GMT) in patients with hypertrophic olivary degeneration (HOD) and to investigate their correlation with previously reported histopathology. DTI was performed in 10 patients diagnosed with HOD. Fractional anisotropy, apparent diffusion coefficient, axial diffusivity, and radial diffusivity were measured in the inferior olivary nucleus (IO), the central tegmental tract, the red and the dentate nuclei, and the superior cerebellar peduncle of HOD patients and compared to age, sex, and side-matched 10 neurologically normal population. The prominent finding on DTI in affected IO was an increase in radial diffusivity compatible with demyelination. While conventional magnetic resonance imaging did not show any sign of involvement in the other components of GMT, DTI demonstrated signal changes in all anatomical components of the GMT. Main DTI findings in GMT of patients with HOD were an increase in radial diffusivity representing demyelination and an increase in axial diffusivity that is reflective of neuronal hypertrophy. DTI parameters can reflect the spatiotemporal evolution of transneuronal degeneration associated with HOD in a manner consistent with the known pathologic stages of HOD.

Osteopetrosis, or Albers-Schonberg disease, is a rare hereditary disease characterized by osteoclast dysfunction and consequent diminished bone resorption and disturbed bone building and remodeling, resulting in abnormally dense and brittle bones. Bone marrow failure, pathologic fractures, and neurologic deficits are common. Osteopetrosis is diagnosed on radiographs. Patients have generalized osteosclerosis, and radiographs may show evidence of fractures. We report a case of cerebral hemorrhage and multiple sclerosis associated with the benign adult form of osteopetrosis.

Leukoencephalopathies with cystic changes in the white matter on magnetic resonance imaging are aetiologically heterogeneous neurological disorders seen in children. A group of leukoencephalopathies characterised by white matter lesions progressing to multifocal cystic degeneration has been reported in various disorders, including mitochondrial enzyme deficiencies, leukodystrophies, and infectious processes. We report two patients with leukoencephalopathy showing progressive cystic changes on serial MRI, and magnetic resonance spectroscopy resembling progressive cavitating leukoencephalopathy.

The authors describe the first shared-resource, 3-T intraoperative MR (ioMR) imaging system and analyze its impact on low-grade glioma (LGG) resection with an emphasis on the use of intraoperative proton MR spectroscopy.The Acibadem University ioMR imaging facility houses a 3-T Siemens Trio system and consists of interconnected but independent MR imaging and surgical suites. Neurosurgery is performed using regular ferromagnetic equipment, and a patient can be transferred to the ioMR imaging system within 1.5 minutes by using a floating table. The ioMR imaging protocol takes10 minutes including the transfer, and the authors obtain very high-resolution T2-weighted MR images without the use of intravenous contrast. Functional sequences are performed when needed. A new 5-pin headrest-head coil combination and floating transfer table were specifically designed for this system.Since the facility became operational in June 2004, 56 LGG resections have been performed using ioMR imaging, and19,000 outpatient MR imaging procedures have been conducted. First-look MR imaging studies led to further resection attempts in 37.5% of cases as well as a 32.3% increase in the number of gross-total resections. Intraoperative ultrasonography detected 16% of the tumor remnants. Intraoperative proton MR spectroscopy and diffusion weighted MR imaging were used to differentiate residual tumor tissue from peritumoral parenchymal changes. Functional and diffusion tensor MR imaging sequences were used both pre- and postoperatively but not intraoperatively. No infections or other procedure-related complications were encountered.This novel, shared-resource, ultrahigh-field, 3-T ioMR imaging system is a cost-effective means of affording a highly capable ioMR imaging system and increases the efficiency of LGG resections.

BACKGROUND AND PURPOSE: During the hyperacute phase of stroke, multiple hypointense vessels were identified specifically in the ischemic territory on gradient-echo T2{*}-weighted MR images (GRE-T2{*} WI) at 3T. The area was named a ``region of multiple hypointense vessels (RMHV).{''} The aim of this study was to assess the usefulness of RMHV for the diagnosis of acute ischemic stroke (AIS) and to establish the relationship of this finding to other MR imaging studies. MATERIALS AND METHODS: Twenty patients with AIS underwent MR imaging at 3T consisting of GRE-T2{*}, diffusion-weighted images (DWI), and perfusion-weighted images (PWI) within 6 hours of symptom onset and follow-up images at 72 hours. RMHV was defined as an area containing multiple hypointense vessels strictly in the region of the ischemic territory on GRE-T2{*}. The RMHV volume on GRE-T2{*}, initial ischemic lesion volumes on DWI, PWI maps, and on follow-up images were measured and compared with the RMHV volume. RESULTS: RMHV on GRE-T2{*} was identified in 20 patients. There was no significant difference between the ischemic lesion volumes on mean transit time (247.3 +/- 88.1 mL), time-to-peak (228.6 +/- 88.8 mL), cerebral blood flow (200.6 +/- 89.7 mL), RMHV on GRE-T2{*} (214.4 +/- 86 mL), and the infarct volume at 72 hours (210.3 +/- 90.4 mL) (P = .975). CONCLUSIONS: RMHV on GRE-T2{*} can be used as a supportive imaging finding for the diagnosis of hyperacute ischemic stroke. RMHV volume provides information that is in accordance with the infarct volume at 72 hours and the data supplied by PWI.

This study was performed to validate the combined study of flow radionuclide venography (FRV) with subsequent 99m Tc-red blood cell(RBC) blood pool ra dionuclide venography(BRV) for the detection of deep vein thrombosis (DVT). Findings in 32 patients with suspected DVT of lower extremities (n = 52) were compared with those of corresponding contrast venograms (CV) serving as a refer ence method. FRV was performed by using three separate doses of a large 99mTc04-bolus (10-12 cc) injection. The findings were as follows: concerning the detection of DVT in calf veins, agreement between FRV and CV, FRV $BRV and CV, and BRV and CV were 67%, 73% and 60%, respectively. For femoral veins, agreement between FRV and CV was 96%, while it was 87% between BRV and CV. When FRV and BRV of femoral veins were evaluated in combination, 100% agreement between radionuclide and radiologic methods was observed. For ili ac veins there was no disagreement in comparison of the methods either singly or in combination. In 7.6% of the extremities, collaterals not demonstrated by CV and BRV were visualized only by FRV. Although the radioactive agent was injected in a relatively large volume, all of the calf veins could not be filled even when they were completely patent. It was concluded that a combined study of FRV with BRV improved the diagnostic value of radionuclide venography for the detection of DVT in calf and femoral veins.

Our aim was to evaluate the relationship between the neurological outcome of tuberous sclerosis complex (TSC) and the findings obtained from both cranial magnetic resonance imaging (MRI) and single voxel proton spectroscopy (SVPS). MRIs of 13 children who met the diagnostic criteria for TSC were taken. Eleven of these children also underwent a prospective analysis of SVPS. Fisher's exact test and Mann-Whitney U test were used, where applicable, to detect any signs of the imaging data that would indicate poor outcome, or in other words, poor seizure control and/ or high degree of mental retardation. Poor seizure control was seen in eight of the patients and multiple seizure types in seven. Mental retardation was severe in six patients and mild/moderate in seven. MRI revealed multiple bilateral tubers and subependymal nodules (13/13), confluence of tubers (8/13), subcortical linear heterotopias (7/13), gyral cores (3/13) and cortical atrophy (3/13). SVPS findings of tubers were characterized by decreased NAA/Cr (1.43 +/- 0.33, p0.001), increased Cho/Cr (0.91 +/- 0.082, p0.05) and mI/Cr (0.97 +/- 0.19, p0.01) ratios when compared with those of the control group. Lactate peak was detected in six patients. Unfavorable outcome in TSC can be predicted with the help of the following: multiple seizure types, a number of confluent appearances of the tubers and cortical atrophy. SVPS could be a useful clue to understand the pathophysiologic function of the tubers, especially in children with refractory epilepsy along with TSC.

Purpose To prospectively define proton magnetic resonance spectroscopy (MRS) findings of meningiomas, and describe the ability or inability of short- and long-echo MRS to differentiate typical and atypical meningiomas in vivo. Material and methods Seventeen patients with pathologically confirmed typical meningiomas and six with atypical meningiomas were evaluated with conventional MR imaging and MRS before resection. MRS studies using point-resolved spectroscopy (PRESS) localisation, at short- and long-echo time (TR 2000 ms, TE: 30 and 144 ms, 64–96 acquisition) were acquired on a 1.5 T scanner. MRS data obtained from these patients were compared with histopathological findings. Mean cellular proliferation (MIB-1) antibody staining against the Ki-67 antigen was also determined in all meningiomas. Results Prominent choline (Cho) was present in all meningiomas. Alanine (Ala) was observed in 21 cases of the 23 meningiomas. Acetylaspartate (NAA) and creatine (Cr) were either not observed or detected in minimal amounts in at all both groups of meningiomas on long TE (144 ms) spectra. The mean Cho/Cr values in the four atypical meningiomas were 4.44 ± 0.30 (mean ± standard deviation) and 3.39 ± 0.52 in the 12 typical meningiomas on short TE spectra. Cho/Cr ratio could not be determined in the other seven cases because of a lack of creatine peak. Of the five meningiomas in which a lactate peak was detected, four were in typical cases and only one was in atypical meningioma. Mean MIB-1 proliferation index was 3.7% in typical meningiomas and 10% in atypical meningiomas. Conclusion Prominent Cho, absence or low amount of NAA and Cr, and presence of Ala were common characteristics of spectral pattern of both atypical and typical meningiomas on MRS. MRS cannot reliably differentiate typical intracranial meningiomas from atypical meningiomas preoperatively. Mean MIB-1 proliferation index was well correlated with histopathology findings.

Tumoral calcinosis is an uncommon disorder and characterized by development of calcified masses within the soft tissues near the large joints. We present a recurrent tumoral calcinosis case with radiographic and magnetic resonance (MR) imaging findings.

To evaluate the long-term effectiveness of percutaneous treatment of liver hydatid cysts.Thirty-one patients (19 female patients and 12 male patients; age range, 8-78 years; mean age, 41 years) with 57 liver hydatid cysts underwent percutaneous treatment. The cysts were treated with hypertonic saline (15% NaCl) and/or absolute alcohol. Sonographic and/or fluoroscopic guidance was used.Repeated sonography revealed a gradual decrease in cyst size. Volume reduction was 18%-99% (mean, 83%). With the disappearance of the fluid component, pseudotumor appearance occurred. In all treated cases, the cyst wall became irregular and thicker during follow-up. No mortality occurred. No abdominal dissemination was encountered during follow-up. Major complications were infection of the cavity, hypersensitivity reaction, and development of biliary fistula. One cyst recurred 11 months after primary drainage.Long-term results indicate that percutaneous treatment of liver hydatid cysts is an effective and safe method in selected cases.

To evaluate the safety and efficacy of percutaneous drainage of pulmonary hydatid cysts.Eleven pulmonary hydatid cysts in eight patients were drained percutaneously after 1-2 years of treatment with mebendazole (50 mg/kg/day). Percutaneous needle aspiration was carried out under ultrasound (US) in six patients and computed tomography (CT) in two patients. Nine cysts were close to, and two cysts were distant from the thoracic wall. After aspiration, hypertonic (15%) saline solution was instilled for up to 35% of the estimated volume of the cyst and aspirated 5-10 min later. Follow-up ranged from 8 to 31 months (mean 16.3 months).Neither anaphylactic shock nor death occurred in any of the eight patients. One patient developed fever, ipsilateral hydropneumothorax, and contralateral pleural effusion. One patient suffered from fever, pneumothorax, and abscess and was treated surgically; one developed fever and dyspnea. The volume reduction during follow-up was 47%-93%. The cystic contents turned into a pseudotumor appearance with a thick irregular contour on CT and higher Hounsfield units. On US, the cysts showed a heterogeneous content with internal echoes representing detached and degenerated membranes, and the fluid content almost completely disappeared.We believe that percutaneous therapy of pulmonary hydatid disease is an effective alternative to surgical treatment in patients who have failed medical therapy.

Rationale and objectives Seven naturally infected sheep with proper hepatic and peritoneal hydatid cysts were studied to assess a new percutaneous approach for cystic hydatid disease. Methods A needle was inserted into the cyst cavity of sheep under sonographic guidance. Immediately after instillation of hypertonic saline to inactivate protoscolices, ultrasound demonstrated that germinal and laminated membranes of the hydatid cysts were separated completely from the pericyst in all sheep. Later, a catheter was inserted into the cyst cavity using Seldinger technique. Alcohol was used as a sclerosing agent. Results Ultrasound showed reduction in cyst size and progressive solidification. No anaphylactic reaction was observed. After sonographic follow-up that lasted from 1 to 26 weeks, the sheep were killed to evaluate macroscopic and histologic changes. At autopsy, no secondary cyst formation was seen. The appearance of treated cysts was different from the others, and there were signs of involution. The histologic sections did not show any viable protoscolices or daughter cysts. The authors observed pericyst hyalinization, inflammatory cells in the cyst wall, cyst wall necrosis, calcification of cyst wall, degeneration of laminated membrane, severe degeneration or absence of germinal membrane, and inflammatory cells and necrotic material in the cyst cavity. Conclusions Percutaneous treatment of hydatid disease was effective in the animal model. Ultrasound was useful in evaluating the intervention.