Neurovascular Imaging with Ultra-High-Resolution Photon-Counting CT: Preliminary Findings on Image-Quality Evaluation.

BACKGROUND AND PURPOSE: The first-generation photon-counting detector CT was recently introduced into clinical practice and represents a promising innovation in high-resolution CT imaging. The purpose of this study was to assess the image quality of ultra-high-resolution photon-counting detector CT compared with energy-integrating detector CT and to explore different reconstruction kernel sharpness levels for the evaluation of intracranial aneurysms. MATERIALS AND METHODS: Ten patients with intracranial saccular aneurysms who had previously undergone conventional energy-integrating detector CT were prospectively enrolled. CT angiograms were acquired on a clinical dual-source photon-counting detector CT in ultra-high-resolution mode and reconstructed with 4 vascular kernels (Bv36, Bv40, Bv44, Bv48). Quantitative and qualitative image-quality parameters of the intracranial arteries were evaluated. For the quantitative analysis (image noise, SNR, contrast-to-noise ratio), ROIs were manually placed at standard anatomic intracranial and extracranial locations by 1 author. In addition, vessel border sharpness was evaluated quantitatively. For the qualitative analysis, 3 blinded neuroradiologists rated photon-counting detector CT and energy-integrating detector CT image quality for the evaluation of the intracranial vessels (ie, the aneurysms and 9 standard vascular branching locations) on a 5-point Likert-type scale. Additionally, readers independently selected their preferred kernel among the 4 kernels evaluated on photon-counting detector CT. RESULTS: In terms of quantitative image quality, Bv48, the sharpest kernel, yielded increased image noise and decreased SNR and contrast-to-noise ratio parameters compared with Bv36, the smoothest kernel. Compared with energy-integrating detector CT, the Bv48 kernel offered better quantitative image quality for the evaluation of small intracranial vessels (P < .001). Image-quality ratings of the Bv48 were superior to those of the energy-integrating detector CT and not significantly different from ratings of the B44 reconstruction kernel. When comparing side by side all 4 photon-counting detector reconstruction kernels, readers selected the B48 kernel as the best to visualize the aneurysms in 80% of cases. CONCLUSIONS: Ultra-high-resolution photon-counting detector CT provides improved image quality for neurovascular imaging. Although the less sharp kernels provided superior SNR and contrast-to-noise ratio, the sharpest kernels delivered the best subjective image quality on photon-counting detector CT for the evaluation of intracranial aneurysms.

Effect of chronic transfusion therapy on progression of neurovascular pathology in pediatric patients with sickle cell anemia.

BACKGROUND: Chronic blood transfusion (CBT) is currently the standard of care for primary and secondary stroke prevention in children with sickle cell anemia (SCA). However, the effect of CBT on cerebrovascular pathology is not well known. METHODS: We reviewed children with SCA receiving CBT for abnormal transcranial Doppler (TCD) [n=12] or cerebrovascular accident (CVA) [n=22]. Baseline cerebral magnetic resonance imaging (MRI) and magnetic resonance angiogram (MRA) were compared with the most recent scans available for each patient and independently scored by a neuroradiologist. RESULTS: Thirty-four patients with a mean age of 6.5years at the time of baseline MRI/MRA were studied. Average elapsed time from baseline to most recent scans was 7.3years. Overall, patients experienced worsening vasculopathy, as measured by mean increases in their baseline MRI and MRA scores of +0.76 and +1.03. There was a significant difference in the mean change of MRI/MRA scores between patients who had CVA and abnormal TCD (MRI; +1.23 vs. -0.08, p=0.001 and MRA; +1.54 vs. +0.08, p=0.02). Patients with abnormal baseline MRA had worsening scores compared to those with normal baseline MRA (54% vs. 9.5%, p=0.01). Also, patients who had CVA were more likely to have an abnormal baseline MRA and worsening scores compared to abnormal TCD patients. CONCLUSION: We show that children with CVA experience progression of cerebral vasculopathy despite CBT. In contrast, CBT for abnormal TCD confers protection against the development and/or progression of cerebral vasculopathy. This effect appears to be real given our large cohort of patients with longer follow up as compared to previous studies.

Comparison of Dural Venous Sinus Volumes Before and After Flight in Astronauts With and Without Spaceflight-Associated Neuro-Ocular Syndrome.

Importance: Spaceflight-associated neuro-ocular syndrome (SANS) occurs in 40% to 60% of National Aeronautics and Space Administration (NASA) International Space Station (ISS) astronauts who present postflight with ophthalmological findings and elevated intracranial pressure. The etiology of SANS is unknown; it is hypothesized that venous outflow congestion from the head and neck occurs because of microgravity, which is supported by the finding of internal jugular vein stagnant flow and thrombosis in some astronauts, but the impact on intracranial dural venous sinus structures remains unknown. Objectives: To clarify the potential risk of retrograde extension of clot intracranially among astronauts with internal jugular venous thrombosis by evaluating intracranial venous structures following spaceflight and to assess for any association between intracranial venous congestion and SANS. Design, Setting, and Participants: This retrospective cohort study of all NASA astronauts who had undergone magnetic resonance (MR) venography at the time of the study included quantitative and qualitative assessments of the intracranial venous system on preflight and postflight MR venograms. Data were collected a mean (SD) of 525.8 (187.5) days before spaceflight and 2.0 (1.5) days after return to Earth. A semiautomated segmentation of the venogram images was used, which was then compared with a neuroradiologist's assessment. Exposures: A mean (SD) 184.3 (66.0) days of ISS spaceflight missions. Main Outcomes and Measures: Dural venous sinus volumes before and after spaceflight. Results: A total of 12 astronauts (2 [16.67%] women; 10 [83.33%] men), with a mean (SD) age of 47.8 (5.8) years, were included. Overall, 4 astronauts (33.33%) met the diagnostic criteria for SANS. No dural venous sinus thrombosis was detected for any astronaut. Astronauts with SANS had significantly greater median (range) preflight to postflight increases in volume vs astronauts without SANS for all 3 venous sinus structures: superior sagittal sinus (13.40% [8.70% to 17.47%] vs -2.66% [-15.84% to 5.31%,]; P = .004), right transverse/sigmoid sinus (17.15% [7.63% to 30.08%] vs 0.77% [-14.98% to 15.12%]; P = .02), and left transverse/sigmoid sinus (9.40% [5.20% to 15.50%] vs -1.40% [-14.20% to 12.50%]; P = .03). There was a positive correlation between the neuroradiologist's evaluation and the semiautomated method for the superior sagittal sinus (rpb = 0.64; P = .02) and the right transverse/sigmoid sinus (rpb = 0.58; P = .050). Conclusions and Relevance: These findings, in conjunction with the growing body of evidence of abnormal blood flow dynamics during spaceflight, suggest an association between intracranial venous congestion and SANS. Thus, there is an implication that individuals with increased venous sinus compliance may be at increased risk of developing SANS. These findings should be confirmed in a larger astronaut population and may contribute to understanding disorders of intracranial venous outflow on Earth.

Prenatal Treatment of Thyroid Hormone Cell Membrane Transport Defect Caused by MCT8 Gene Mutation.

Background: Mutations of the thyroid hormone (TH)-specific cell membrane transporter, monocarboxylate transporter 8 (MCT8), produce an X-chromosome-linked syndrome of TH deficiency in the brain and excess in peripheral tissues. The clinical consequences include brain hypothyroidism causing severe psychoneuromotor abnormalities (no speech, truncal hypotonia, and spastic quadriplegia) and hypermetabolism (poor weight gain, tachycardia, and increased metabolism, associated with high serum levels of the active TH, T3). Treatment in infancy and childhood with TH analogues that reduce serum triiodothyronine (T3) corrects hypermetabolism, but has no effect on the psychoneuromotor deficits. Studies of brain from a 30-week-old MCT8-deficient embryo indicated that brain abnormalities were already present during fetal life. Methods: A carrier woman with an affected male child (MCT8 A252fs268*), pregnant with a second affected male embryo, elected to carry the pregnancy to term. We treated the fetus with weekly 500 µg intra-amniotic instillation of levothyroxine (LT4) from 18 weeks of gestation until birth at 35 weeks. Thyroxine (T4), T3, and thyrotropin (TSH) were measured in the amniotic fluid and maternal serum. Treatment after birth was continued with LT4 and propylthiouracil. Follow-up included brain magnetic resonance imaging (MRI) and neurodevelopmental evaluation, both compared with the untreated brother. Results: During intrauterine life, T4 and T3 in the amniotic fluid were maintained above threefold to twofold the baseline and TSH was suppressed by 80%, while maternal serum levels remained unchanged. At birth, the infant serum T4 was 14.5 µg/dL and TSH <0.01 mU/L compared with the average in untreated MCT8-deficient infants of 5.1 µg/ and >8 mU/L, respectively. MRI at six months of age showed near-normal brain myelination compared with much reduced in the untreated brother. Neurodevelopmental assessment showed developmental quotients in receptive language and problem-solving, and gross motor and fine motor function ranged from 12 to 25 at 31 months in the treated boy and from 1 to 7 at 58 months in the untreated brother. Conclusions: This is the first demonstration that prenatal treatment improved the neuromotor and neurocognitive function in MCT8 deficiency. Earlier treatment with TH analogues that concentrate in the fetus when given to the mother may further rescue the phenotype.

Imaging of acute bilateral paramedian thalamic and mesencephalic infarcts.

Thalami and midbrain arterial supply arises from many perforating blood vessels with a complex distribution for which many variations have been described. One rare variation, named the "artery of Percheron," is a solitary arterial trunk that arises from one of the proximal segments of a posterior cerebral artery and supplies the paramedian thalami and the rostral midbrain bilaterally. Occlusion of this artery results in bilateral thalamic and mesencephalic infarctions. We describe three patients with a presumed occlusion of the artery of Percheron in whom MR imaging showed characteristic symmetrical bilateral paramedian thalamic and mesencephalic infarctions.

Development of de novo intracranial aneurysm in three months: case report and literature review.

SUMMARY: Formation of de novo intracranial aneurysms is rare. Their etiology is not known, but they are seen in patients with inherited collagen disorders, polycystic kidney disease, and familial history of aneurysms. Most de novo intracranial aneurysms are found 3-20 years after diagnosis of the initial aneurysm. We report the imaging findings in a 46-year-old man who developed a de novo intracranial aneurysm only 3 months after surgical clipping of another aneurysm.

Unique cerebrovascular anomalies in Noonan syndrome with RAF1 mutation.

Noonan syndrome is a common autosomal dominant neurodevelopmental disorder caused by gain-of-function germline mutations affecting components of the Ras-MAPK pathway. The authors present the case of a 6-year-old male with Noonan syndrome, Chiari malformation type I, shunted benign external hydrocephalus in infancy, and unique cerebrovascular changes. A de novo heterozygous change in the RAF1 gene was identified. The patient underwent brain magnetic resonance imaging, computed tomography angiography, and magnetic resonance angiography to further clarify the nature of his abnormal brain vasculature. The authors compared his findings to the few cases of Noonan syndrome reported with cerebrovascular pathology.

Novel mutation in Sjogren-Larsson syndrome is associated with divergent neurologic phenotypes.

Sjögren-Larsson syndrome is an inherited disorder of lipid metabolism caused by mutations in the ALDH3A2 gene that codes for fatty aldehyde dehydrogenase, which results in accumulation of fatty aldehydes and alcohols and is characterized by ichthyosis, intellectual disability, and spastic diplegia/quadriplegia. The authors describe 2 unrelated Honduran patients who carried the same novel homozygous nonsense mutation (c.1309A>T, p.K437X) and ALDH3A2 DNA haplotype, but widely differed in disease severity. One patient exhibited spastic quadriplegia with unusual neuroregression, whereas the other patient had the usual static form of spastic diplegia with neurodevelopmental disabilities. Biochemical analyses showed a similar profound deficiency of fatty aldehyde dehydrogenase activity and impaired fatty alcohol metabolism in both patients' cultured fibroblasts. These results indicate that variation in the neurologic phenotype of Sjögren-Larsson syndrome is not strictly determined by the ALDH3A2 mutation or the biochemical defect as expressed in cultured fibroblasts, but by unidentified epigenetic/environmental factors, gene modifiers, or other mechanisms.

Brain MRI findings in patients with mucopolysaccharidosis types I and II and mild clinical presentation.

Our objective was to determine the brain magnetic resonance imaging (MRI) abnormalities in a selected group of patients with mucopolysaccharidosis (MPS) types I and II who had only mild clinical manifestations. We retrospectively assessed MRI brain studies in 18 patients with MPS (type I: 6 and type II: 12). We evaluated abnormal signal intensity in the white matter, widening of the cortical sulci, size of the supratentorial ventricles, dilatation of the perivascular spaces (PVS) and enlargement of the subarachnoid spaces. We observed a broad spectrum of findings, and despite severely abnormal MRI studies, no patients had mental retardation. We also observed that dilated PVS, previously believed to be caused by macroscopic deposition of the mucopolysaccharides, had an appearance similar to cerebrospinal fluid (CSF) in all MRI sequences performed, even in FLAIR and trace diffusion weighted images. Based on our results, we believe that with the exception of white matter abnormalities and brain atrophy, all other findings may be related to abnormal resorption of CSF, and there is no relationship between the imaging and clinical manifestations of the disease.