Opposed-phase MR imaging of lipid storage myopathy in a case of Chanarin–Dorfman disease

Gaeta, Michele; Minutoli, Fabio; Toscano, Antonio; Celona, A.; Musumeci, Olimpia; Racchiusa, Sergio; Mazziotti, Silvio

doi:10.1007/s00256-008-0559-8

Cited by 14 publications

(7 citation statements)

References 13 publications

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“…Third, the quantification of the susceptibility‐induced fat resonance shift could be helpful in the discrimination of increased intracellular lipid storage from extracellular fatty infiltration. A noninvasive assessment of the discrimination between extracellular and intracellular fat accumulation could be helpful in the study of disorders associated with intracellular lipid storage, like lipid storage myopathies (37).…”

Section: Discussionmentioning

confidence: 99%

Chemical shift‐based water/fat separation in the presence of susceptibility‐induced fat resonance shift

Karampinos

Shimakawa

et al. 2012

Magnetic Resonance in Med

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Chemical shift-based water/fat separation methods have been emerging due to the growing clinical need for fat quantification in different body organs. Accurate quantification of proton-density fat fraction requires the assessment of many confounding factors, including the need of modeling the presence of multiple peaks in the fat spectrum. Most recent quantitative chemical shift-based water/fat separation approaches rely on a multi-peak fat spectrum with pre-calibrated peak locations and pre-calibrated or self-calibrated peak relative amplitudes. However, water/fat susceptibility differences can induce fat spectrum resonance shifts depending on the shape and orientation of the fatty inclusions. The effect is of particular interest in the skeletal muscle due to the anisotropic arrangement of extracellular lipids. In the present work, the effect of susceptibility-induced fat resonance shift on the fat fraction is characterized in a conventional complex-based chemical shift-based water/fat separation approach that does not model the susceptibility-induced fat resonance shift. A novel algorithm is then proposed in order to quantify the resonance shift in a complex-based chemical shift-based water/fat separation approach that considers the fat resonance shift in the signal model, aiming to extract information about the orientation/geometry of lipids. The technique is validated in a phantom and preliminary in vivo results are shown in the calf musculature of healthy and diabetic subjects.

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Section: Discussionmentioning

confidence: 99%

Chemical shift‐based water/fat separation in the presence of susceptibility‐induced fat resonance shift

Karampinos

Shimakawa

et al. 2012

Magnetic Resonance in Med

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“…Spectral molecular imaging has the potential to measure lipid content directly and noninvasively in the liver and elsewhere in the body. MR has been used to measure lipid in lipid storage disease . The role of spectral molecular imaging could be expanded into the storage diseases.…”

Section: Spectral Molecular Imaging For Other Applicationsmentioning

confidence: 99%

Clinical applications of spectral molecular imaging: potential and challenges

Anderson

Butler

2014

Contrast Media & Molecular

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Spectral molecular imaging is a new X-ray-based imaging technology providing highly specific 3D imaging at high spatial resolution that has the potential to measure disease activity and response to treatment noninvasively. The ability to identify and quantify components of tissue and biomarkers of disease activity derive from the properties of the photon-processing detector. Multiple narrow sections of the energy spectrum are sampled simultaneously, providing a range of energy dependent Hounsfield units. As each material has a specific measurable X-ray spectrum, spectroscopic imaging allows for multiple materials to be quantified and differentiated from each other simultaneously. The technology, currently in its infancy, is set to grow rapidly, much as magnetic resonance did. The critical clinical applications have not yet been established, but it is likely to play a major role in identifying and directing treatment for unstable atherosclerotic plaque, assessing activity and response to treatment of a range of inflammatory diseases, and monitoring biomarkers of cancer and its treatment. If combined with Positron-emission tomography (PET), spectral molecular imaging could have a far greater effective role in cancer diagnosis and treatment monitoring than PET-CT does at present. It is currently used for small animal and specimen imaging. There are many challenges to be overcome before spectral imaging can be introduced into clinical medicine - these include technological improvements to detector design, bonding to the semiconductor layer, image reconstruction and display software, identifying which biomarkers are of most relevance to the disease in question, and accelerating drug discovery enabled by the new capabilities provided by spectral imaging.

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“…Nevertheless, these data should be further assessed and confirmed in a larger cohort of patients, because the overall number of muscle MRI observations of NLSD-I patients is scanty [13]. …”

Section: Discussionmentioning

confidence: 99%

“…They showed a heterogeneous involvement mainly affecting the posterior compartment of the thighs, anterior and posterior compartment of the legs, deltoid, trapezius, infra- and supraspinatus. By contrast, typical NLSD-I shows milder involvement although cases presenting with severe and diffuse fatty replacement of muscles have been described [ 13 ].…”

Section: Introductionmentioning

confidence: 99%

Muscle MRI in neutral lipid storage disease (NLSD)

et al. 2017

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Neutral lipid storage disease (NLSD) is a rare inherited disorder of lipid metabolism resulting in lipid droplets accumulation in different tissues. Skeletal muscle could be affected in both two different form of disease: NLSD with myopathy (NLSD-M) and NLSD with ichthyosis (NLSD-I). We present the muscle imaging data of 12 patients from the Italian Network for NLSD: ten patients presenting NLSD-M and two patients with NLSD-I. In NLSD-M gluteus minimus, semimembranosus, soleus and gastrocnemius medialis in the lower limbs and infraspinatus in the upper limbs were the most affected muscles. Gracilis, sartorius, subscapularis, pectoralis, triceps brachii and sternocleidomastoid were spared. Muscle involvement was not homogenous and characteristic “patchy” replacement was observed in at least one muscle in all the patients. Half of the patients showed one or more STIR positive muscles. In both NLSD-I cases muscle involvement was not observed by T1-TSE sequences, but one of them showed positive STIR images in more than one muscle in the leg. Our data provides evidence that muscle imaging can identify characteristic alterations in NLSD-M, characterized by a specific pattern of muscle involvement with “patchy” areas of fatty replacement. Larger cohorts are needed to assess if a distinct pattern of muscle involvement exists also for NLSD-I.Electronic supplementary materialThe online version of this article (doi:10.1007/s00415-017-8498-8) contains supplementary material, which is available to authorized users.

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Opposed-phase MR imaging of lipid storage myopathy in a case of Chanarin–Dorfman disease

Cited by 14 publications

References 13 publications

Chemical shift‐based water/fat separation in the presence of susceptibility‐induced fat resonance shift

Chemical shift‐based water/fat separation in the presence of susceptibility‐induced fat resonance shift

Clinical applications of spectral molecular imaging: potential and challenges

Muscle MRI in neutral lipid storage disease (NLSD)

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