MRI findings,patterns of disease distribution,and muscle fat fraction calculation in five patients with Charcot-Marie-Tooth type 2 F disease

Purpose  

To describe the magnetic resonance imaging (MRI) pattern of muscle involvement and disease progression in five patients with late-onset Charcot-Marie-Tooth (CMT) disease type 2 F, due to a previously unknown mutation.     

Gorham-Stout disease and generalized lymphatic anomaly—clinical, radiologic, and histologic differentiation

Purpose

Gorham-Stout disease (GSD) is a rare vascular disorder of lymphatic origin characterized by progressive osteolysis. Generalized lymphatic anomaly (GLA) is a multisystem disorder that also commonly affects bone. We hypothesized that Gorham-Stout disease is different from other osseous lymphatic anomalies. We proposed to discriminate these entities by analyzing findings on skeletal imaging.

Methods

Clinical data, imaging studies, and histopathologic findings were retrospectively reviewed in patients presenting to our Vascular Anomalies Center with lymphatic anomalies of bone.

Findings

Within a cohort of 51 patients with lymphatic disorder and radiological evidence of bony involvement, two distinct categories emerged. Nineteen patients met the imaging criteria for GSD: progressive osteolysis with resorption and cortical loss. Thirty-two were categorized as GLA: Discrete radiolucencies and increasing numbers of bone affected over time, but without evidence of progressive osteolysis. The ribs were the most common site in both groups, followed by the cranium, clavicle, and cervical spine in GSD, and thoracic spine, humerus, and femur in GLA. Fewer bones were involved in GSD, with relative sparing of the appendicular skeleton. Associated infiltrative soft tissue abnormality was seen in 18 in GSD, but only six with GLA. Macrocystic lymphatic malformations were identified in 14 with GLA, but none with GSD.

Conclusions

There are significant radiological differences between GSD and GLA, although there are some overlapping features. The major distinguishing characteristic is the progressive osteolysis seen in GSD. Findings suggestive of GLA are more extensive involvement, particularly of the appendicular skeleton, presence of discretemacrocystic lymphatic malformations and visceral organ lesions.     

Respiratory bronchiolitis, respiratory bronchiolitis-associated interstitial lung disease, and desquamative interstitial pneumonia: different entities or part of the spectrum of the same disease process?

OBJECTIVE: Our objective was to assess high-resolution CT findings of respiratory bronchiolitis, respiratory bronchiolitis-associated interstitial lung disease, and desquamative interstitial pneumonia and to determine whether these three entities could be reliably differentiated by radiologic criteria. MATERIALS AND METHODS: CT scans (1- to 3-mm collimation) were reviewed in 40 patients with pathologically proven respiratory bronchiolitis (n = 16), respiratory bronchiolitis-associated interstitial lung disease (n = 8), or desquamative interstitial pneumonia (n = 16). All patients with respiratory bronchiolitis and respiratory bronchiolitis-associated interstitial lung disease were cigarette smokers, and 85% of the patients with desquamative interstitial pneumonia had a history of smoking. CT scans were independently reviewed by two radiologists who assessed the pattern and distribution of abnormalities. RESULTS: The predominant abnormalities in respiratory bronchiolitis were centrilobular nodules (12 [75%] of 16 patients) and ground-glass attenuation (six [38%] of 16). No single abnormality predominated in the respiratory bronchiolitis-associated interstitial lung disease group; findings included ground-glass attenuation (four [50%] of eight), centrilobular nodules (three [38%] of eight), and mild fibrosis (two [25%] of eight). All patients with desquamative interstitial pneumonia showed ground-glass attenuation, and 10 (63%) of the 16 showed evidence of fibrosis. CONCLUSION: The significant overlap between the CT findings of respiratory bronchiolitis, respiratory bronchiolitis-associated interstitial lung disease, and desquamative interstitial pneumonia is consistent with the concept that they represent different degrees of severity of small airway and parenchymal reaction to cigarette smoke.     

Muscular involvement of Behçet's disease: ultrasonography, computed tomography, and magnetic resonance imaging findings

Behçet's disease (BD) is a form of systemic vasculitis with the classic triad of recurrent oral and genital ulcers along with uveitis. In BD, muscular involvement is very rare. We report a case of muscular involvement in BD with characteristic findings using ultrasonography, computed tomography, and magnetic resonance imaging.     

Quantitation,regional vulnerability,and kinetic modeling of brain glucose metabolism in mild Alzheimer’s disease

Purpose To examine CMRglc measures and corresponding glucose transport (K ₁ and k ₂) and phosphorylation (k ₃) rates in the medial temporal lobe (MTL, comprising the hippocampus and amygdala) and posterior cingulate cortex (PCC) in mild Alzheimer’s disease (AD). Methods Dynamic FDG PET with arterial blood sampling was performed in seven mild AD patients (age 68 ± 8 years, four females, median MMSE 23) and six normal (NL) elderly (age 69 ± 9 years, three females, median MMSE 30). Absolute CMRglc (μmol/100 g/min) was calculated from MRI-defined regions of interest using multiparametric analysis with individually fitted kinetic rate constants, Gjedde-Patlak plot, and Sokoloff’s autoradiographic method with population-based rate constants. Relative ROI/pons CMRglc (unitless) was also examined. Results With all methods, AD patients showed significant CMRglc reductions in the hippocampus and PCC, and a trend towards reduced parietotemporal CMRglc, as compared with NL. Significant k ₃ reductions were found in the hippocampus, PCC and amygdala. K ₁ reductions were restricted to the hippocampus. Relative CMRglc had the largest effect sizes in separating AD from NL. However, the magnitude of CMRglc reductions was 1.2- to 1.9-fold greater with absolute than with relative measures. Conclusion CMRglc reductions are most prominent in the MTL and PCC in mild AD, as detected with both absolute and relative CMRglc measures. Results are discussed in terms of clinical and pharmaceutical applicability.     

99mTc-MAMA-chrysamine G, a probe for beta-amyloid protein of Alzheimer’s disease

Chrysamine G (CG), an analogue of Congo red, is known to bind in vitro to the β-amyloid protein (Aβ 10-43) and to homogenates of several regions of the brain of Alzheimer’s disease (AD) patients. We synthesised a conjugate of 2-(acetamido)-CG with a bis-S-trityl protected monoamide-monoaminedithiol (MAMA-Tr₂) tetraligand, which was efficiently deprotected and labelled with a 75% yield with technetium-99m, to obtain ^99mTc-MAMA-CG. In mice, ^99mTc-MAMA-CG was cleared mainly by the hepatobiliary system, resulting in a fast blood clearance. Brain uptake of ^99mTc-MAMA-CG was low. Co-injection with the blood pool tracer iodine-125 human serum albumin (¹²⁵I-HSA) demonstrated a brain/blood activity ratio for ^99mTc-MAMA-CG that was significantly higher than that for ¹²⁵I-HSA (t test for dependent samples, P<0.02), indicating the ability of ^99mTc-MAMA-CG to cross the blood-brain barrier. In vitro autoradiography demonstrated pronounced binding of ^99mTc-MAMA-CG to β-amyloid deposits in autopsy sections of the parietal and occipital cortex of an AD patient as compared with controls. Adding 10 μM Congo red during incubation displaced the binding of ^99mTc-MAMA-CG. Congo red staining and autoradiography identified the same lesions. ^99mTc-MAMA-CG seems to bind selectively to β-amyloid deposition in human brain parenchyma and blood vessels in vitro and thus might be a lead compound for further development of a useful tracer agent for the in vivo diagnosis of Alzheimer’s disease. Received 15 June and in revised form 12 July 1999     

MR imaging findings of vertebral involvement in Gorham–Stout disease,generalized lymphatic anomaly,and kaposiform lymphangiomatosis

Purpose

To assess the MR imaging findings of vertebral involvement in Gorham–Stout disease (GSD), generalized lymphatic anomaly (GLA), and kaposiform lymphangiomatosis (KLA).

Methods

Nine patients (three patients with GSD, three with GLA, and three with KLA) who underwent whole-spine MR examinations were included. MR findings of fatty marrow replacement and prolonged T1 and T2 lesions of the vertebrae were retrospectively assessed. Prolonged T1 and T2 lesions were defined as well-defined and round-, oval-, or geographic-shaped areas.

Results

Six patients [one (33%) patient with GSD, two (67%) with GLA, and three (100%) with KLA] showed both fatty marrow replacement and prolonged T1 and T2 lesions. Fatty marrow replacement was seen in the cervical spine of two (33%) patients, thoracic spine of six (100%), lumbar spine of six (100%), and sacral spine of two (33%). Prolonged T1 and T2 lesions were seen in the cervical spine of three (50%) patients, thoracic spine of three (50%), lumbar spine of six (100%), and sacral spine of three (50%).

Conclusion

Both fatty marrow replacement and prolonged T1 and T2 lesions of the vertebrae could be observed in GSD, GLA, and KLA. The most commonly affected site was the lumbar spine, followed by the thoracic spine.

     

Distinct spatiotemporal patterns for disease duration and stage in Parkinson’s disease

Purpose

To assess correlations between the degree of dopaminergic depletion measured using single-photon emission computed tomography (SPECT) and different clinical parameters of disease progression in Parkinson’s disease (PD).

Methods

This retrospective study included 970 consecutive patients undergoing ¹²³I-ioflupane SPECT scans in our institution between 2003 and 2013, from which we selected a study population of 411 patients according to their clinical diagnosis: 301 patients with PD (69.4?±?11.0 years, of age, 163 men) and 110 patients with nondegenerative conditions included as controls (72.7?±?8.0 years of age, 55 men). Comprehensive and operator-independent data analysis included spatial normalization into standard space, estimation of the mean uptake values in the striatum (caudate nucleus + putamen) and voxel-wise correlation between SPECT signal intensity and disease stage as well as disease duration in order to investigate the spatiotemporal pattern of the dopaminergic nigrostriatal degeneration. To compensate for potential interactions between disease stage and disease duration, one parameter was used as nonexplanatory coregressor for the other.

Results

Increasing disease stage was associated with an exponential decrease in ¹²³I-ioflupane uptake (R ² ?=?0.1501) particularly in the head of the ipsilateral caudate nucleus (p?<?0.0001), whereas increasing disease duration was associated with a linear decrease in ¹²³I-ioflupane uptake (p?<?0.0001; R ² ?=?0.1532) particularly in the contralateral anterior putamen (p?<?0.0001).

Conclusion

We observed two distinct spatiotemporal patterns of posterior to anterior dopaminergic depletion associated with disease stage and disease duration in patients with PD. The developed operator-independent reference database of 411 ¹²³I-ioflupane SPECT scans can be used for clinical and research applications.

     

Is every sharply defined, symmetrical, necrotic-demyelinating lesion in the corpus callosum an actual manifestation of Marchiafava-Bignami disease?

Neuroimaging of a 75-year-old lady demonstrated the characteristic pathological features of the Marchiafava-Bignami disease (MBD), which develops usually in chronic alcoholics. The onset of the neurological symptoms and signs were abrupt and similar to those seen in common ischemic vascular lesions. Our patient denied that she had consumed alcoholic beverage during her life. Laboratory results showed her liver enzymes were not elevated and a subsequent abdominal ultrasound examination revealed no liver pathology. The attack responded fairly well to anti-ischemic therapy and a complete recovery was observed within a week. In this sense, her pathology cannot be considered as a true MBD in spite of the presence of the CT and MRI findings of MBD. Our case seems to show that the CT and MRI findings in MBD are not specific because new imaging procedures reveal edematous, necrotic lesions that may have the appearance of MBD.     

The effect of altitude-induced hypoxia on heart disease: do acute, intermittent, and chronic exposures provide cardioprotection?

With the global prevalence of heart disease continuing to increase and large populations living at altitude around the world, we review the concept of altitude and cardioprotection. Current epidemiologic data, as well as the basic science and molecular mechanisms involved in acute, intermittent, and chronic exposure to altitude, are discussed. Intermittent and chronic exposures have been demonstrated to increase coronary vasculature, decrease infarction size, and provide more efficient metabolism and better cardiac functional recovery postischemia. Mechanisms demonstrated in these situations include those mediated by the hypoxia inducible factor, as well as reactive oxygen species, certain ion channels, and protein kinases. Although current epidemiologic studies are difficult to interpret owing to many confounders, many studies point to the possibility that living at altitude provides cardiovascular protection. Further research is needed to determine if the bench studies showing mechanisms consistent with cardioprotection translate to the population living at altitude.     

Regional analysis of FDG and PIB-PET images in normal aging, mild cognitive impairment, and Alzheimer’s disease

Objective  The objective of the study is to compare the diagnostic value of regional sampling of the cerebral metabolic rate of glucose metabolism (MRglc) using [18F]-fluoro-2-deoxyglucose ([18F]FDG)-positron emission tomography (PET) and amyloid-beta pathology using Pittsburgh Compound-B ([11C]PIB)-PET in the evaluation of patients with Alzheimer’s disease (AD) and mild cognitive impairment (MCI) compared to normal elderly (NL). Materials and methods  AD patients, 7 NL, 13 MCI, and 17, received clinical, neuropsychological, magnetic resonance imaging (MRI), FDG, and PIB-PET exams. Parametric images of PIB uptake and MRglc were sampled using automated regions-of-interest (ROI). Results  AD showed global MRglc reductions, and MCI showed reduced hippocampus (HIP) and inferior parietal lobe (IP) MRglc compared to NL. On PIB, AD patients showed significantly increased uptake in the middle frontal gyrus (MFG), posterior cingulate cortex (PCC), and IP (ps < 0.05). PIB uptake in MCI subjects was either AD or NL-like. HIP MRglc and MFG PIB uptake were the best discriminators of NL from MCI and NL from AD. These two best measures showed high diagnostic agreement for AD (94%) and poor agreement for MCI (54%). For the NL vs. MCI discrimination, combining the two best measures increased the accuracy for PIB (75%) and for FDG (85%) to 90%. Conclusion  For AD, the pattern of regional involvement for FDG and PIB differ, but both techniques show high diagnostic accuracy and 94% case by case agreement. In the classification of NL and MCI, FDG is superior to PIB, but there is only 54% agreement at a case level. Combining the two modalities improves the diagnostic accuracy for MCI. Work at NYU was supported by NIH grants AG12101, AG08051, and AG13616. Work at Turku University was supported by the Academy of Finland, the Sigrid Juselius Foundation, and Turku University Hospital clinical grants (EVO).     

Distinct perfusion patterns in Alzheimer’s disease,frontotemporal dementia and dementia with Lewy bodies

Objectives

To compare pseudo-continuous arterial spin-labelled (PCASL) magnetic resonance imaging (MRI) measured quantitative cerebral blood flow (CBF) of patients with frontotemporal dementia (FTD), dementia with Lewy Bodies (DLB), Alzheimer’s disease (AD) and controls, in a region of interest (ROI) and voxel-wise fashion.

Methods

We analysed whole-brain 3D fast-spin-echo PCASL images of 20 FTD patients, 14 DLB patients, 48 AD patients and 50 controls from the Amsterdam Dementia Cohort. Regional CBF patterns were compared using analyses of variance for repeated measures. Permutation tests were used for voxel-wise comparisons. Analyses were performed using uncorrected and partial volume corrected (PVC) maps. All analyses were corrected for age and sex.

Results

There was an interaction between diagnosis and region (p?Conclusions Patients with AD, FTD and DLB display distinct patterns of quantitative regional CBF changes. 3D-PCASL may provide additional value in the workup of dementia patients.

Key points

? Patterns of regional CBF changes differ between AD, FTD and DLB patients ? CBF is lower throughout the brain in DLB than AD and FTD ? 3D-PCASL MRI is a potential non-invasive and easily accessible alternative to FDG-PET ? 3D-PCASL MRI may be of additional value in the workup of dementia     

Anoperineal disease in Hidradenitis Suppurativa : MR imaging distinction from perianal Crohn’s disease

Objective

To determine whether Hidradenitis suppurativa (HS)-related anoperineal disease can be distinguished from Crohn’s disease (CD) using MRI.

Methods

Pelvic MRI of 23 HS and 46 CD patients with anoperineal disease between 2007 and 2014 were independently analysed by two radiologists. For diagnosis of HS, sensitivity, specificity and positive likelihood ratios (LRs) of inflammatory features and of their anatomical distribution were calculated and compared to those of CD.

Results

In HS, fistulae were less present (P?=?.033) and less frequently involved the sphincters (P?=?.001) than in CD. Granulomas were more frequent (P?=?.0005). For anterior/inguinal and posterior localizations, sensitivity, specificity and LR for diagnosis of HS were 70% (49.1, 84.4), 87% (74.3, 93.9), 5.3 (2.41, 11.79) and 57% (36.8, 74.4), 93% (82.5, 97.8), 8.67 (2.74, 27.41), respectively. Combination of signs including posterior involvement, absence of rectal wall thickening and bilaterality of features yielded specificity of 100% (95% CI: 92.3–100) for HS.

Conclusion

Although MRI presentations of anoperineal disease may overlap between CD and HS, specific diagnosis of HS is possible with a combination of three features: absence of features’ predominance in perianal area, absence of rectal wall thickening and bilaterality of features.

Key Points

? Spectrum of MRI features of HS-related anoperineal disease is wide. ? Specific diagnosis of HS-related anoperineal disease is possible using MR imaging. ? A combination of three MR signs allows distinction between HS and CD.