Total Body Magnetic Resonance Imaging Research Articles

Calcified Granulomatous Pneumocystis Jirovecii Pneumonia in a Toddler with Severe Combined Immunodeficiency—A Case Report

Pneumocysis jirovecii pneumonia (PJP) is a type of pneumonia originating from the fungus Pneumocystis jiroveci and is a major cause of serious pneumonia in immunocompromised conditions. PJP typically appears as bilateral diffuse pulmonary infiltrates. Granulomatous PJP is an uncommon form of pneumocystis infection, occurring in only 3% to 5% of patients. Calcification is exceptional. We present a 9-month-old boy affected by Severe Combined Immunodeficiency (SCID) that has been diagnosed at the age of 7 months following a lung Pneumocystis jirovecii infection. He underwent a routine total-body magnetic resonance imaging (MRI) prior to an allogeneic hematopoietic stem cell transplantation (HSCT). The MRI showed significant alterations of the pulmonary parenchyma; hence, a computer tomography of the lung was performed showing the presence of 11 calcified granulomatous nodules. We report a unique case of calcified granulomatous PJP in a toddler affected by SCID. Awareness of this rare yet possible presentation in patients with SCID is important given the potential clinical implications when managing a patient undergoing HSCT and it further enhances the importance of advanced radiologic imaging prior to HSCT.

Diverse presentation and tailored treatment of infantile myofibromatosis: A single-center experience.

Infantile myofibromatosis (IM) is a rare benign fibrous tumor with diverse clinical presentations and treatments, such as watchful waiting, surgical excision, and low-dose chemotherapy. Clinical presentation and tailored treatment of five infants with solitary and generalized IM are described, together with a review of the literature. Three patients underwent total-body magnetic resonance imaging (MRI) at diagnosis and during follow up, which revealed disease extension that aided in designing treatment. Visceral involvement included central nervous system, cardiac, gastrointestinal, muscle, bone, and subcutaneous tissue lesions. The patient with the solitary form of IM was followed up without treatment and had spontaneous improvement. Patients with the multicentric form received intravenous low-dose methotrexate and vinblastine chemotherapy. One patient who received oral methotrexate due to cardiac involvement and unfeasible central line access had excellent results. Recurrence was successfully treated by the same methotrexate and vinblastine regimen as that administered at diagnosis. We suggest screening all patients with one or more IM lesions by means of total body MRI due to its inherent superior soft tissue resolution. Total-body MRI may also be used for routine follow up. Oral methotrexate can be administered successfully in patients that lack central line access, and recurrent lesions can be treated with the same chemotherapeutic combination as that given at diagnosis. Long-term follow up is needed, since recurrence could appear years after initial presentation of the disease.

Diagnostic accuracy of postmortem computed tomography, magnetic resonance imaging, and computed tomography-guided biopsies for the detection of ischaemic heart disease in a hospital setting.

The autopsy rate worldwide is alarmingly low (0-15%). Mortality statistics are important, and it is, therefore, essential to perform autopsies in a sufficient proportion of deaths. The imaging autopsy, non-invasive, or minimally invasive autopsy (MIA) can be used as an alternative to the conventional autopsy in an attempt to improve postmortem diagnostics by increasing the number of postmortem procedures. The aim of this study was to determine the diagnostic accuracy of postmortem magnetic resonance imaging (MRI), computed tomography (CT), and CT-guided biopsy for the detection of acute and chronic myocardial ischaemia. We included 100 consecutive adult patients who died in hospital, and for whom next-of-kin gave permission to perform both conventional autopsy and MIA. The MIA consists of unenhanced total-body MRI and CT followed by CT-guided biopsies. Conventional autopsy was used as reference standard. We calculated sensitivity and specificity and receiver operating characteristics curves for CT and MRI as the stand-alone test or combined with biopsy for detection of acute and chronic myocardial infarction (MI). Sensitivity and specificity of MRI with biopsies for acute MI was 0.97 and 0.95, respectively and 0.90 and 0.75, respectively for chronic MI. MRI without biopsies showed a high specificity (acute: 0.92; chronic: 1.00), but low sensitivity (acute: 0.50; chronic: 0.35). CT (total Agatston calcium score) had a good diagnostic value for chronic MI [area under curve (AUC) 0.74, 95% confidence interval (CI) 0.64-0.84], but not for acute MI (AUC 0.60, 95% CI 0.48-0.72). We found that the combination of MRI with biopsies had high sensitivity and specificity for the detection of acute and chronic myocardial ischaemia.

Identification and Management of TP53 Gene Carriers Detected Through Multigene Panel Testing.

The increasing use of multigene panel tests may reveal an unexpected pathogenic variant in the tumor protein p53 (TP53) gene among individuals who do not meet clinical criteria for Li-Fraumeni syndrome (LFS). Among a registry-based sample of individuals with a pathogenic (P) or likely pathogenic (LP) variant in TP53, we sought to characterize the original clinical context in which genetic testing was performed, the personal and family history and whether they met clinical LFS criteria, and the follow-up care following diagnosis among those in whom this information was available. Among individuals with multigene panel testing (inclusive of the TP53 gene) who were part of either the Inherited Cancer Registry or the Vanderbilt Hereditary Cancer Registry protocols and were confirmed to have a P/LP variant in TP53, pedigree was reviewed to characterize personal and family history, including original clinical context for genetic testing and whether they met clinical diagnostic criteria for TP53. Subsequent cancer risk management options were documented through information collected in the study questionnaire and medical records. Among the 10 participants enrolled in one of the two registries with a germline TP53 P/LP variant detected through a multigene panel test, the most frequent clinical contexts for testing were genetic risk recognized in the survivorship care setting (50%) and a newly diagnosed breast cancer (40%). No participants met classic LFS diagnostic criteria and 6 of 10 met Chompret criteria (60%) at the time of testing. Among the seven participants in whom results of total body magnetic resonance imaging were available, only three had completely negative findings. The remaining four had findings, three of which were likely benign/incidental requiring additional follow-up, and one was consistent with metastatic disease in the vertebrae. Our findings suggest that individuals identified with a germline P/LP variant in TP53 through multigene panel tests have substantial variations in clinical phenotypes not previously recognized when only those with striking family histories suggestive of LFS were tested through targeted TP53 testing. The expansion of the clinical phenotype among carriers of a P/LP in TP53 in the era of multigene testing should be considered when making cancer risk management recommendations, which were developed based on patients with classic LFS.

Tumour-induced osteomalacia: a literature review and a case report

Tumour-induced osteomalacia (TIO) is a rare paraneoplastic syndrome characterised by severe hypophosphataemia and osteomalacia, with renal phosphate wasting that occurs in association with tumour. The epidemiology likewise aetiology is not known. The clinical presentation of TIO includes bone fractures, bone and muscular pains, and sometimes height and weight loss. TIO may be associated with mesenchymal tumours which may be benign or malignant in rare cases. Mesenchymal tumour itself may be related to fibroblast growth factor 23 (FGF23), which is responsible for hypophosphataemia and phosphaturia occurring in this paraneoplastic syndrome. Hypophosphataemia, phosphaturia and elevated alkaline phosphatase are the main laboratory readings that may lead to more precise investigations and better diagnosis. Finding the tumour can be a major diagnostic challenge and may involve total body magnetic resonance imaging, computed tomography and scintigraphy using radiolabelled somatostatin analogue. The treatment of choice for TIO is resection of a tumour with a wide margin to insure complete tumour removal, as recurrences of these tumours have been reported. We provide here an overview on the current available TIO case reports and review the best practices that may lead to earlier recognition of TIO and the subsequent treatment thereof, even though biochemical background and the long-term prognosis of the disease are not well understood. This review also includes a 4-year-long history of a patient that featured muscular pains, weakness and multiple stress fractures localised in the hips and vertebra with subsequent recovery after tumour resection. Because the occurrence of such a condition is rare, it may take years to correctly diagnose the disease, as is reported in this case report.

Tumor-Induced Osteomalacia: Increased Level of FGF-23 in a Patient with a Phosphaturic Mesenchymal Tumor at the Tibia Expressing Periostin.

In our case, a 45-year-old male patient had multiple fractures accompanied by hypophosphatemia. FGF-23 levels were significantly increased, and total body magnetic resonance imaging (MRI) revealed a tumor mass located at the distal tibia leading to the diagnosis of tumor-induced osteomalacia (TIO). After resection of the tumor, hypophosphatemia and the increased levels of FGF-23 normalized within a few days. Subsequent microscopic examination and immunohistochemical analysis revealed a phosphaturic mesenchymal tumor mixed connective tissue variant (PMTMCT) showing a positive expression of somatostatin receptor 2A (SSTR2A), CD68, and Periostin. Electron microscopy demonstrated a poorly differentiated mesenchymal tumor with a multifocal giant cell component and evidence of neurosecretory-granules. However, the resected margins showed no tumor-free tissue, and therefore a subsequent postoperative radiotherapy was performed. The patient is still in complete remission after 34 months. Tumor resection of PMTMCTs is the therapy of choice. Subsequent radiotherapy in case of incompletely resected tumors can be an important option to avoid recurrence or metastasis even though this occurs rarely. The prognostic value of expression of Periostin has to be evaluated more precisely in a larger series of patients with TIO.

Unifying Diagnosis for Adenomatous Polyps, Café-au-Lait Macules, and a Brain Mass?

Question: A 13-year-old girl undergoing surveillance for a familial condition had a brain mass identified on total body magnetic resonance imaging (MRI). She underwent brain MRI, which showed a mass lesion (Figure A). The lesion was resected and histology was consistent with an anaplastic astrocytoma. Her brother had been diagnosed with metastatic duodenal adenocarcinoma at 11 years of age. The family history was significant as parents were first cousins. No other cancers in relatives could be confirmed.

Whole-Body MR Imaging in a Multimodality World: Current Applications, Limitations, and Future Potential for Comprehensive Musculoskeletal Imaging

Whole-body imaging offers the promise of global disease assessment. This article reviews clinical status, and technical limitations and future prospects of this exciting technology. In particular, it describes technical aspects of magnetic resonance (MR) angiography, MR lymphography, and, in particular, total-body MR imaging.

Total body MRI-governed involved compartment irradiation combined with high-dose chemotherapy and stem cell rescue improves long-term survival in Ewing tumor patients with multiple primary bone metastases

We examined the role of total body magnetic resonance imaging (TB-MRI)-governed involved compartment irradiation (ICI) and high-dose chemotherapy (HDC), followed by stem cell rescue (SCR) in patients with high-risk Ewing tumors (ETs) with multiple primary bone metastases (high-risk ET-MBM). Eleven patients with high-risk ET-MBM receiving initial assessment of involved bones by TB-MRI were registered from 1995 to 2000 (group A). In all, 6 patients out of 11 had additional lung disease at initial diagnosis; all had multifocal bone disease with more than three bones involved. After systemic induction with etoposide, vincristine, adriamycin (doxorubicin), ifosfamide, and actinomycin D (EVAIA) or VAIA chemotherapy, ICI of all sites positive by TB-MRI was administered, followed by HDC and SCR. A second group matched for observation period and consisting of 26 patients with more than three involved bones at diagnosis was treated with the European Intergroup Cooperative Ewing Sarcoma Study-92 (EICESS-92) protocol (group B). These patients did not receive TB-MRI and consequently did not receive TB-MRI-governed ICI, or HDC and SCR. Survival in group A vs group B was 45 vs 8% at 5 years and 27 vs 8% at 10 years after diagnosis (log rank and Breslow: P<0.005). We conclude that TB-MRI-governed ICI followed by HDC and SCR in ET-MBM is feasible and warrants further evaluation in prospective studies.

Total body magnetic resonance imaging (TBMRI) as a diagnostic tool in diagnosing multi-site avascular necrosis (AVN) in patients with childhood onset leukemia and bone pain

Background: Avascular necrosis of the bone (AVN) is a devastating complication in pediatric patients with acute lymphoblastic leukemia (ALL), and articular surface involvement is associated with progressive joint damage. Total body MRI (TBMRI) is a new, non-invasive imaging modality which can identify multiple sites with AVN, with increased STIR signal with corresponding hypointense borders on the T-1 weighted imaging corresponding to AVN lesions. Objectives: To report TBMRI data on 10 patients with pediatric ALL with recent onset of bone pain. Methods: 10 patients (7F, 3M) diagnosed with ALL at median (range) age of 6.2 (3–18) years, and recently developing bone pain were examined with X-ray imaging of the symptomatic region and with TBMRI. TBMRI with coronal T1 and STIR of entire body, with axial T2 fat saturated imaging was performed on each patient at a median (range) of 9 (2–49) months after ALL diagnosis. Results: None of the initial X-ray images revealed abnormal findings. TBMRI showed in 9 of 10 children bone marrow lesions compatible with AVN. In addition to a symptomatic site, all patients had multiple additional lesions. In total, there were a median (range) of 14.5 (5–17)AVN lesions per patient,with amedian (range) of 4.5 (0– 6) lesions per patient at articular surfaces: knee joints (n=8patients); humerus (n=6 patients); femoral heads (n=1 patient); and ankles (n=4 patients). 8/9 patients with articular surface involvement had bilateral lesions. The size varied from small focal lesions to lesions measuring over 95% of the whole transverse diameter of the bone. None of the patients to date have required surgical intervention, but each patient is followed by repeat TBMRI every 6 months. Conclusion: 1. Total body MRI allows early diagnosis of symptomatic as well as clinically non-apparent avascular necrosis (AVN) in pediatric patients with leukemia. 2. TBMRI can be used in planning for medical or surgical therapies.

Visceral fat loss evaluated by total body magnetic resonance imaging in obese women operated with laparascopic adjustable silicone gastric banding.

To investigate the changes of visceral fat, as compared with total and subcutaneous adipose tissue (AT) in obese patients operated with laparascopic adjustable silicone gastric banding (LAP-BAND). Six premenopausal morbid obese (body mass index range: 41.4-44.2 kg/m2) women, aged 38-42 y, operated with LAP-BAND, evaluated before, 8 weeks after, and 24 weeks after surgery. Fat distribution was analysed by total body multi-slices MRI. Total AT, gluteo-femoral subcutaneous AT, abdominal subcutaneous AT, and abdominal visceral AT volumes were measured. FM was calculated from MRI-determined total AT volume and AT density. A weight loss of 9.9+/-3.8 kg was observed in the first 8 weeks after LAP-BAND (0-8 weeks), and a further weight loss of 7.1+/-4.9 kg in the subsequent 16 weeks (8-24 weeks). Total AT showed a statistically significant reduction of 6.2+/-4.0 l in 0-8 weeks and a further significant reduction of 7.7+/-3.9 l in 8-24 weeks (P<0.01 from baseline). A similar trend was observed for both abdominal and gluteo-femoral subcutaneous AT. Visceral AT showed a statistically significant reduction of 1.0+/-0.9 l in the 0-8 weeks (P<0.05) and a further non-significant reduction of 0.6+/-0.7 l in 8-24 weeks (P<0.05 from baseline). In 0-8 weeks, the relative reduction of visceral AT was higher than the relative reduction of both total AT and gluteo-femoral subcutaneous AT. A highly significant correlation was observed between the reduction of total AT and the reduction of both abdominal and gluteo-femoral subcutaneous AT. By contrast, in 0-8 weeks, the reduction of total AT and the reduction of visceral AT were not correlated. In a subsequent analysis, both observations collected in the first 8 weeks after LAP-BAND and observations collected in the last 16 weeks are simultaneously considered, leading to a total of 12 time periods (two time periods for each individual patient). In order to identify factors associated with preferential visceral fat reduction, we calculated for each of the 12 time periods the difference between the percentage changes of visceral AT and the percentage changes of total AT. The relationship between this difference and several other variables were investigated by simple correlation analysis. The only variables found to be associated were the initial visceral AT volume, the absolute level of weight loss (kg) per week of observation, and the relative level of weight loss (%) per week of observation. In the phase of rapid weight loss following LAP-BAND, a preferential mobilization of visceral fat, as compared with total and subcutaneous AT, can occur. However, this preferential visceral fat reduction occurs only in those patients presenting higher levels of visceral fat deposition at baseline and higher levels of weight loss. International Journal of Obesity (2000)24, 60-69

Total-body MR imaging in as little as 18 seconds.

Eighteen human subjects underwent echo-planar magnetic resonance (MR) imaging of the whole body at 1.5 T. A stack of axial images was obtained from the top of the head to the feet with gradient-echo, spin-echo, and inversion-recovery spin-echo pulse sequences by moving the patient table through the magnet isocenter. In all examinations, the subjects tolerated the procedure well and table motion was uniform. Image quality depended on careful setting of the transmit frequency, gain, and shims. Results were easily obtained and reproducible in all cases in as little as 18 seconds.