Multimodal imaging in the diagnosis of bone giant cell tumors:A retrospective study

BACKGROUND Giant cell tumor of bone is a locally aggressive and rarely metastasizing tumor,and also a potential malignant tumor that may develop into a primary malignant giant cell tumor.AIM To evaluate the role of multimodal imaging in the diagnosis of giant cell tumors of bone.METHODS The data of 32 patients with giant cell tumor of bone confirmed by core-needle biopsy or surgical pathology at our hospital between March 2018 and March 2023 were retrospectively selected.All the patients with giant cell tumors of the bone were examined by X-ray,computed tomography(CT)and magnetic resonance imaging(MRI),and 7 of them were examined by positron emission tomography(PET)-CT.RESULTS X-ray imaging can provide overall information on giant cell tumor lesions.CT and MRI can reveal the characteristics of the internal structure of the tumor as well as the adjacent relationships of the tumor,and these methods have unique advantages for diagnosing tumors and determining the scope of surgery.PET-CT can detect small lesions and is highly valuable for identifying benign and malignant tumors to aid in the early diagnosis of metastasis.CONCLUSION Multimodal imaging plays an important role in the diagnosis of giant cell tumor of bone and can provide a reference for the treatment of giant cell tumors.

Anisotropy of Trabecular Bone from Ultra-Distal Radius Digital X-Ray Imaging: Effects on Bone Mineral Density and Age

Background: When applied to trabecular bone X-ray images, the anisotropic properties of trabeculae located at ultra-distal radius were investigated by using the trabecular bone scores (TBS) calculated along directions parallel and perpendicular to the forearm. Methodology: Data from more than two hundred subjects were studied retrospectively. A DXA (GE Lunar Prodigy) scan of the forearm was performed on each subject to measure the bone mineral density (BMD) value at the location of ultra-distal radius, and an X-ray digital image of the same forearm was taken on the same day. The values of trabecular bone score along the direction perpendicular to the forearm, TBSx, and along the direction parallel to the forearm, TBSy, were calculated respectively. The statistics of TBSx and TBSy were calculated, and the anisotropy of the trabecular bone, which was defined as the ratio of TBSy to TBSx and changed with subjects’ BMD and age, was reported and analyzed. Results: The results show that the correlation coefficient between TBSx and TBSy was 0.72 (p BMD and age was reported. The results showed that decreased trabecular bone anisotropy was associated with deceased BMD and increased age in the subject group. Conclusions: This study shows that decreased trabecular bone anisotropy was associated with decreased BMD and increased age.

Imaging of bone metastasis: An update

Early detection of skeletal metastasis is critical for accurate staging and optimal treatment. This paper briefly reviews our current understanding of the biological mechanisms through which tumours metastasise to bone and describes the available imaging methods to diagnose bone metastasis and monitor response to treatment. Among the various imaging modalities currently available for imaging skeletal metastasis, hybrid techniques whichfuse morphological and functional data are the most sensitive and specific, and positron emission tomography(PET)/computed tomography and PET/magnetic resonance imaging will almost certainly continue to evolve and become increasingly important in this regard.

Dynamic contrast-enhanced MR imaging findings of bone metastasis in patients with prostate cancer

AIM:To evaluate the dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI) findings of bone metastasis in prostate cancer patients.METHODS:Sixteen men with a diagnosis of metastatic prostate cancer to bones were examined with DCE-MRI at 1.5 Tesla.The mean contrast agent concentration vs time curves for bone metastasis and normal bone were calculated and K trans and ve values were estimated and compared.RESULTS:An early significant enhancement (wash-out:n=6,plateau:n=8 and persistent:n=2) was detected in all bone metastases (n=16).Bone metastasis from prostate cancer showed significant enhancementand high K trans and ve values compared to normal bone which does not enhance in the elderly population.The mean K trans was 0.101/mmiinn and 0.0051/mmiinn (P < 0.001),the mean ve was 0.141 and 0.0038 (P < 0.001),for bone metastases and normal bone,respectively.

AGE-RELATED CHANGES OF BONE MARROW OF NORMAL ADULT MAN ON DIFFUSION WEIGHTED IMAGING

Objective To investigate the signal intensity and apparent diffusion coefficient (ADC) of bone marrow of normal adult man on diffusion weighted imaging (DWI). Methods Fifteen healthy volunteers and thirty-eight patients with benign prostatic hyperplasia or normal prostate were enrolled in this study, with age range 28-82 years old (mean 55.26 ± 18.05 years). All people were examined with large field DWI on a 3.0T magnetic resonance scanner, which ranges from the top of head to the lower limb. The signal-to-noise ratio (SNR) on the DWI and ADC of lumber vertebra at renal hilum level, left ilium and superior segment of left femur were measured. The measured SNR and ADC value of the above sites were compared by one way analysis of variance and their correlations with age were investigated by Pearson's correlation analysis. Results The SNR of lumber vertebra, left ilium and left femur showed no significant difference (F = 0.271, P = 0.763). The SNR of lumber vertebra (r = 0.309, P = 0.024) and left ilium (r = 0.359, P = 0.008) showed positive correlation with age, while the SNR of left femur showed no correlation with age (r = -0.163, P = 0.283). The ADC of lumber vertebra [(0.617 ± 0.177) ×10-3 mm2/s] was significantly higher than that of left ilium [(0.404 ± 0.112) ×10-3 mm2/s, P < 0.001] and left femur [(0.362 ± 0.092) ×10-3 mm2/s, P < 0.001], while the ADC of left ilium and left femur had no significant difference. The ADC of lumber vertebra, left ilium and left femur showed no correlation with age. Conclusion Understanding of age-related changes of normal adult bone marrow on DWI is very important to differentiate the normal bone marrow and abnormal lesions.

FEASIBILITY OF WHOLE BODY DIFFUSION WEIGHTED IMAGING IN DETECTING BONE METASTASIS ON 3.0T MR SCANNER

Objective To evaluate the feasibility of whole body diffusion weighted imaging (DWI) in bone metastasis detection using bone scintigraphy as comparison. Methods Forty-five patients with malignancy history were enrolled in our study. All the patients received the whole body DWI and bone scintigraphy scan within 1 week. The magnetic resonance (MR) examination was performed on 3.0T MR scanner using embedded body coil. The images were reviewed separately by two radiologists and two nuclear medicine physicians, who were blinded to the results of the other imaging modality. The sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) of the two techniques for detecting bone metastasis were analyzed. Results A total of 181 metastatic lesions in 77 regions of 34 patients were detected by whole body DWI, and 167 metastatic lesions in 76 regions of 31 patients were identified by bone scintigraphy. The patient-based sensitivity and PPV of whole body DWI and bone scintigraphy were similar (89.5% vs. 81.6%, 97.1% vs. 91.2%), whereas, the patient-based specificity and NPV of whole body DWI were obviously higher than those of bone scintigraphy (85.7% vs. 57.1%, 60.0% vs. 36.4%). Ten regions negative in scintigraphy but positive in whole body DWI, mainly located in spine, pelvis, and femur; nine regions only detected by scintigraphy, mainly located in skull, sternum, clavicle, and scapula. The region-based sensitivity and specificity of whole body DWI were slightly higher than those of bone scintigraphy (89.5% vs. 88.4%, 95.6% vs. 87.6%). Conclusion Whole body DWI reveals excellent concordance with bone scintigraphy regarding detection of bone metastasis, and the two techniques are complementary for each other.

MR perfusion and diffusion imaging for the diagnosis of benign and malignant bone tumors

Objective： MR-PWI and MR-DWI were supplementary functional methods to differentiate benign from malignant bone tumors. The aim of this study was to assess the diagnostic potential of MR-PWI conjunction with MR-DWI in differentiating benign from malignant bone tumors. Methods： MR-PWI and MR-DWI were performed on 39 patients by using a 1.5 T MR imager. Perfusion imaging was started with GRE-EPI sequence as soon as the bolus administration commenced. With b value as 300 s/mm^2, diffusion imaging was performed with SE-EPI sequence. Type of TIC, peak enhancement, steepest slope, signal difference between 2 baselines and ADC were compared between benign and malignant bone tumors. The data were analyzed with soft-ware （SPSS, version 13.0）. Subjective overall performance of two techniques was evaluated with Receiver Operating Characteristic （ROC） analysis. Results： 1. MR-PWI： （1） The Patterns of TIC of most benign bone tumors （17/21） were type Ⅰ and Ⅱ, and all malignant bone tumors were type Ⅲ and Ⅳ. （2） There were significant differences in peak enhancement （17.52 ± 2.37 vs. 52.42 ± 5.74） %, steepest slope （4.69 ± 2.84 vs. 9.63 ± 4.05）%/s and signal difference between 2 baselines （6.87 ±3.34 vs. 31.75 ± 11.09） % between benign and malignant groups. And their diagnosis accuracy was 82.1%, 79.5% and 87.2%, respectively. （3）. 4 highly vascularized benign bone tumors were mistaken in diagnosis as malignant ones according to their perfusion characteristics. 2. MR-DWI： There was significant difference between ADC of benign and malignant groups [（1.86 ± 0.38） vs. （1.44± 0.26）] ×10^-3 mm^2/s when b value was 300 s/mm^2. The diagnosis accuracy was 79.5% when ADC value less than 1.63 × 10^-3 mm^2/s was considered as malignant ones. 3. The diagnosis accuracy of M R-PWI and MR-DWI were 89.7% and 79.5%, respectively. Conclusion： MR-PWI is the better valuable technique than MR-DWI in differentiation benign from malignant bone tumors. To suspicious highly vascularized bone tumors, MR-PWI combining with MR-DWI lead to higher diagnosis accuracy.

High-resolution bone microstructure imaging based on ultrasonic frequency-domain full-waveform inversion

The main challenge in bone ultrasound imaging is the large acoustic impedance contrast and sound velocity differences between the bone and surrounding soft tissue. It is difficult for conventional pulse-echo modalities to give accurate ultrasound images for irregular bone boundaries and microstructures using uniform sound velocity assumption rather than getting a prior knowledge of sound speed. To overcome these limitations, this paper proposed a frequency-domain fullwaveform inversion(FDFWI) algorithm for bone quantitative imaging utilizing ultrasonic computed tomography(USCT).The forward model was calculated in the frequency domain by solving the full-wave equation. The inverse problem was solved iteratively from low to high discrete frequency components via minimizing a cost function between the modeled and measured data. A quasi-Newton method called the limited-memory Broyden–Fletcher–Goldfarb–Shanno algorithm(L-BFGS) was utilized in the optimization process. Then, bone images were obtained based on the estimation of the velocity and density. The performance of the proposed method was verified by numerical examples, from tubular bone phantom to single distal fibula model, and finally with a distal tibia-fibula pair model. Compared with the high-resolution peripheral quantitative computed tomography(HR-p QCT), the proposed FDFWI can also clearly and accurately presented the wavelength scaled pores and trabeculae in bone images. The results proved that the FDFWI is capable of reconstructing high-resolution ultrasound bone images with sub-millimeter resolution. The parametric bone images may have the potential for the diagnosis of bone disease.

Application of whole body diffusion weighted imaging in bone metastasis

Objective： We evaluated （Whole-Body Diffusion Weighted Imaging, WB-DWl） application in bone metastasis. Methods： WB-DWI with GE 1.5T MR/I was performed on 10 healthy volunteers and 35 patients. WB-DWl and ECT was performed in all 35 patients. Using WB-DWl for detecting bone metastasis and compared them with that of ECT. Results： Background was suppressed in WB-DWl, fat, muscle, vessels and liver appeared same as background. Skeleton showed medium or slightly lower signal. Lymph nodes, some glandular organs, kidneys displayed medium signal. Spleen, testicle, brain tissue were low signal. Bladder, gallbladder were depicted as low signal because of ＂T2 through＂. Bone metastasis were multitude and inequality of size, punctiform, nodosity, column low intensity. Concordance between WB-DWI and ECT was seen in 4 cases. WB-DWl displayed 1 bone metastasis on skull, 46 on rib and sternum, 3 on scapula, 4 on extremities, 83 on vertebral, 36 on pelvic bone. ECT showed 2 bone metastasis on skull, 62 on rib and sternum, 7 on scapula, 9 on extremities, 64 on vertebral, 19 on pelvic bone. WB-DWl was 74% for bone metastasis on rib and sternum, ECT was 77%, 53% for vertebral and pelvic bone. All of the focus were statistics analyses, P 〈 0.05. Total probability distribution inequality if metastasis on different positions. Conclusion： WB-DWI was an effective imaging technology for screening bone metastasis.

Parathyroid and bone imaging in primary hyperparathyroidism

Skeletal derangements occur quite often in patient with primary hyperparathyroidism (PHPT). We investigated parathyroid and bone imagings in 59 cases of pathologically proven PHPT. Forty-nine cases were pathologically proven parathyroid adenomas; 8 presented hyperplasia and the other 2 were adenocarcinomas. Parathyroid imaging (early phase imaging, EPI) was conducted at 30 min after injecting 740～925MBq 99mTc-MIBI and 2～3h later (delayed phase imaging, DPI) separately. The following thyroid imagings were performed at the same posture 10 min after intravenous injection of 74～111MBq 99mTcO4-. The 99mTc- MIBI subtraction imaging data were obtained by subtracting thyroid imaging from that of DPI. Among 49 cases of proven hyperparathyroid adenoma 45 yielded positive imagings. Eight cases with hyperplasia gave negative results. The results were positive in 2 cases of parathyroid adenocarcinoma. Results of 99mTc-MDP/bone imaging: 35 cases of hyperparathyroid adenocarcinoma (disease duration 1-6 months) showed normal bone images, while 14 cases showed superscan images, course being 4-12 months. Bone imaging for 2 cases of adenocarcinoma showed multiple, radioactive aggregated foci (brown tumor imaging); course lasting 10-24 months. The results of bone imaging in 8 cases of hyperplasia/ hyperparathyroidism were normal. It was concluded that diagnostic accuracy for parathyroid was 79.6% and for parathyroid adenoma was 91.8%, and the technique has no diagnostic value for hyperplasia. The 99mTc-MDP / bone imaging results for PHPT can be classified into three categories, i.e. normal, superscan and brown tumor. The imaging results correlated well with the different categories and degrees of bone damage, the duration of clinical course and the pathological types. Therefore, it's important to use bone imaging data in association with therapy to reflect the stage and progress of PHPT.

Novel Mixture of Materials Produces Bone- and Soft Tissue-Like Imaging Density

The objective of the present study was to access to imaging material density close to or identical density imaging of bone and soft tissue, from raw materials of nature to be used in different model applications and to provide comprehensive evaluation of the imaging system and techniques under realistic conditions in radiology departments for educational purposes. The palm tree of abundance in Saudi Arabia was chosen to study the date’s seeds and palm leaves in terms of photographic density. The results achieved were referring to the lack of imaging density of dates seeds and palm leaves compared to bone density. Thus, it was necessary to use two additional materials: Salt and eggshells in order to find the highest density and graphic approach to bone density. The present preliminary study indicated that the permanent and stable model can be achieved by palm leaves, salt & eggshell powder with imaging material density close to the imaging density of the bone and soft tissue for achieving more clinical skills and medical education.

Preparation and biodistribution of ^(99)Tc^m-PIDP as bone imaging agent

A novel zoledronic acid derivative,1-hydroxy-2-(2-propyl-1H-imidazol-1-yl)ethane-1,1-diyldiphosphonic acid (PIDP), was synthesized by three-step reactions from 2-propyl-1H-imidazole. It was labeled with 99Tcm in conditions of 0.1 mg SnCl2.2H2O at pH 6.0 and 99TcmO4? in aqueous solution for 20 min at room temperature. The labeling yield and radiochemical purity of 99Tcm-PIDP are both higher than 95%. The biodistribution results show that the bone uptake is up to 8.47% ID/g which is the maximum of bone uptake at 30 min after injection of 99Tcm-PIDP in mice. The pharmacokinetic parameters can be estimated from the exponential equation of C=59.565e-11.307t+2.069e-1.211t. The clear bone image of rabbit was obtained at 120 min after injection of 99Tcm-PIDP. The results indicate that 99Tcm-PIDP has highly selective uptake in the skeletal and low uptake, rapid clearance in soft tissues, so it would be a potential novel bone imaging agent.

Imaging appearance of bone tumors of the maxillofacial region

This paper reviews the imaging appearance of benign and malignant bone tumors of the maxillofacial region.A benign bone tumor commonly appears as a well circumscribed lesion.The matrix of the tumor may be calcified or sclerotic.Malignancies often display aggressive characteristics such as cortical breakthrough, bone destruction,a permeative pattern and associated soft-tissue masses.Computed tomography scan is an excellent imaging modality for accurate localization of the lesion,characterization of the tumor matrix and detection of associated osseous changes such as bone remodeling,destruction or periosteal reaction.Magnetic resonance imaging is of limited value in the evaluation of maxillofacial bone tumors.

Preparation and preliminary biological evaluation of ^(99)Tc^m-TADP as bone imaging agent

TADP, 2-(1H-1,2,4-triazol-1-yl)-1-hydroxyethane-1,1-diphosphonic acid, was synthesized by three step reactions from the raw material 1H-1,2,4-triazole. Tcm-TADP was prepared with 5 mg TADP at pH 7.0 by joining 99 99TcmO4 with SnCl2·2H2O in aqueous solution for 10 min at room temperature. Both labeling yield and radiochemical - purity of Tcm-TADP were more than 95%. The biodistribution in rats and bone scan in rabbits were also studied. The 99 uptake of organ was expressed as %ID/g. The results showed that the bone uptake is up to 17.17%ID/g which is the maximum of bone uptake at 30 min after injection of Tcm-TADP in rats, bone-to-muscle and bone-to-blood uptake 99 ratios were 61.32 and 13.21, respectively. The clear bone image of rabbit was obtained at 120 min after injection of 99Tcm-TADP and clearance in soft tissue was visible. The preparation of 99Tcm-TADP was convenient and 99Tcm-TADP exhibited high uptake in bone, and it would be a potential new bone imaging agent.

Imaging Analysis of Trabecular Bone Texture Based on the Initial Slope of Variogram of Ultra-Distal Radius Digital X-Ray Imaging: Effects on Bone Mineral Density and Age

Background: When applied to trabecular bone X-ray images, a method for analyzing trabecular bone texture based on the initial slope of variogram (ISV) was used to assess the trabecular bone health. Methodology: Data from more than two hundred subjects were retrospectively studied. For each subject, a DXA (GE Lunar Prodigy) scan of the forearm was performed, and bone mineral density (BMD) value was measured at the location of ultra-distal radius, X-ray digital image of the same forearm was taken on the same day, and ISV value over the same location of ultra-distal radius was calculated. Pearson’s correlation coefficients were calculated to examine the correlation between BMD and ISV of the trabecular bones located at the same ultra-distal radius. ISV values changed with subjects’ age were also reported. Results: The results show that ISV value was highly correlated with the DXA-measured BMD of the same trabecular bone located at the ultra-distal radius. The correlation coefficient between ISV and BMD with the 95% confident was 0.79 ± 0.09. They also demonstrated that the age-related changes in trabecular bone health and differentiated age patterns in males and females, respectively. The results showed that the decrease in BMD was accompanied by a decrease in the initial slope of variogram (ISV). Conclusions: This study suggests that ISV might be used to quantitatively evaluate trabecular health for osteoporosis and bone disease diagnosis.

Magnetic Resonance Imaging for Diagnosis and Analysis of Bone Tumors and Bone Tuberculosis

The purpose of the study is to explore the diagnostic value of magnetic resonance imaging in bone tuberculosis and bone tumors.Firstly,148 patients with bone tumor and bone tuberculosis were selected,74 cases in each group.Perform magnetic resonance imaging(MRI)examinations on all patients,relevant parameters were set and the changes in the value of the dispersion system were recorded to obtain T1-weighted imaging and T2-weighted imaging.The results showed that among 74 patients,41 cases were bone damage,38 cases were joint swelling,27 cases were sparse bone,10 cases were bone hyperplasia and 5 cases were dead bone and calcification.The imaging manifestations of bone tumors were 45 cases of fractures,26 cases of surrounding soft tissue infiltration,10 cases of hip duct enlargement and 11 cases of sacral foramen enlargement.After MRI diagnosis,the accuracy of diagnosing 74 cases of bone tumor was 100%,and the accuracy of diagnosing 65 cases of bone tuberculosis was 87.84%.The difference between the two groups was statistically significant(P<0.05).The diffusion sensitivity coefficient of MRI weighted imaging was 150 s/mm2,and there was no significant difference in ADC values between the two groups(P>0.05).When the diffusion sensitivity coefficient is 300 s/mm2,and the difference between the two groups was statistically significant(P<0.05).Therefore,MRI had a certain diagnostic value for bone tuberculosis and bone tumors,and MRI had a higher diagnostic value and richer information for bone tumors.Corresponding treatment can be performed to improve the prognosis.

Sacrum magnetic resonance imaging for low back and tail bone pain:A quality initiative to evaluate and improve imaging utility

As quality and cost effectiveness become essential in clinical practice,an evidencebased evaluation of the utility of imaging orders becomes an important consideration for radiology’s value in patient care.We report an institutional quality improvement project including a retrospective review of utility of sacrum magnetic resonance(MR)imaging for low back pain at our institution over a four-year period and follow-up results after physician education intervention.Sacral MR imaging for low back pain and tailbone pain were only positive for major findings in 2/98(2%)cases,and no major changes in patient management related to imaging findings occurred over this period,resulting in almost$500000 cost without significant patient benefit.We distributed these results to the Family Medicine department and clinics that frequently placed this order.An approximately 83%drop in ordering rate occurred over the ensuing 3 mo follow-up period.Sacrum MR imaging for low back pain and tail bone pain has not been a cost-effective diagnostic tool at our institution.Physician education was a useful tool in reducing overutilization of this study,with a remarkable drop in such studies after sharing these findings with primary care physicians at the institution.In conclusion,sacrum MR imaging rarely elucidates the cause of low back/tail pain diagnosed in a primary care setting and is even less likely to result in major changes in management.The practice can be adopted in other institutions for the benefit of their patients and improve cost efficiency.

RADIONUCLIDE WHOLE BODY BONE IMAGING IN THE DIAGNOSIS OF SKELETAL METASTASES

Of 628 patients with extra-osseous malignancies diagnosed by surgery and/or pathology, 207 (33.0%) were identified as having skeletal metastasis by bone imaging. There was statistical significant difference in the incidence of metastasis in different malignancies (P<0.02). The metastatic rates of nasopharyn-geal, lung, prostate and breast cancers were higher than gastrointestinal, kidney, and other malignancies. There was significant differences in the different sites of skeletal metastasis (P<0.01). They were thorax, spine, pelvis, limbs and skull in order of incidence. Solitary metastatic rate was 15.9%. Biopsy is advised for patients suspected to have metastatic disease but with only one single 'hot spot' in skeletal imaging, particularly in the rib.

Reliability and sensitivity to change of IW-TSE versus DESS magnetic resonance imaging sequences in the assessment of bone marrow lesions in knee osteoarthritis patients: Longitudinal data from the Osteoarthritis Initiative (OAI) cohort

Background: Bone marrow lesions (BMLs) are associated with osteoarthritis (OA). We assessed the performance of two commonly used MRI sequences, IW-TSE and DESS, for reliability in the detection of BMLs and sensitivity to estimate change over time. We suggested that the IW-TSE would demonstrate higher sensitivity to change than DESS in the assessment of BML prevalence and change over time. This study was performed using a subset of the Osteoarthritis Initiative (OAI) cohort. Methods: A sub-group of 144 patients was selected from the OAI progression cohort who all had IW-TSE and DESS MRI acquisitions at baseline and 24 months. BMLs were assessed using a semi-quantitative scale in the global knee, medial and lateral compartments, and subregions. Intra-reader reliability was assessed on a subset of 51 patients. Results: Intra-reader reliability was substantial for the global knee ≥ 0.64, medial ≥ 0.70, and lateral ≥ 0.63 compartments for IW-TSE and DESS. The prevalence of BML detected at baseline was only slightly greater for IW-TSE compared to DESS. The mean BML score at baseline was significantly higher (p ≤ 0.006) for the IW-TSE than the DESS. However, mean change at 24 months was similar for both sequences for all regions except the medial compartment (p = 0.034) and medial femur (p = 0.015) where they were significantly higher for DESS than IW-TSE. Moreover, the prevalence of BML change at 24 months was similar in all regions except the global knee (p = 0.047) and the lateral tibial plateau (p = 0.031). Conclusion: This study does not suggest superior sensitivity to change of one sequence over the other for almost all the regions. The only difference is a higher BML mean change over time detected by the DESS sequence in the medial compartment and femur. These data bring into perspective that both sequences seem equivalent regarding their use for the assessment of BML in clinical trials.

Imaging of gaucher disease

Gaucher disease is the prototypical lysosomal storage disease.It results from the accumulation of undegrad-ed glucosylceramide in the reticuloendothelial system of the bone marrow,spleen and liver due to deficiency of the enzyme glucocerebrosidase.This leads to he-matologic,visceral and skeletal maifestions.Build up of glucosylceramide in the liver and spleen results in hepatosplenomegaly.The normal bone marrow is re-placed by the accumulating substrate leading to many of the hematologic signs including anemia.The visceral and skeletal manifestations can be visualized with vari-ous imaging modalities including radiography,com-puted tomography,magnetic resonance imaging(MRI)and radionuclide scanning.Prior to the development of enzyme replacement therapy,treatment was only sup-portive.However,once intravenous enzyme replace-ment therapy became available in the 1990s it quickly became the standard of care.Enzyme replacement therapy leads to improvement in all manifestations.Thevisceral and hematologic manifestations respond more quickly usually within a few months or years.The skel-etal manifestations take much longer,usually several years,to show improvement.In recent years newer treatment strategies,such as substrate reduction thera-py,have been under investigation.Imaging plays a key role in both initial diagnosis and routine monitoring of patient on treatment particularly volumetric MRI of the liver and spleen and MRI of the femora for evaluating bone marrow disease burden.