Radiographic Skeletal Survey Research Articles

A skeleton in a huff: insights in etiologies of osteosclerosis.

A 30-yr-old man developed right lower leg pain and a palpable solid mass. Radiographic imaging revealed a periosteal reaction with an exostotic mass arising from the right distal fibula. Generalized skeletal osteosclerosis with periosteal reaction was discovered on a radiographic skeletal survey. A biopsy of the right fibular mass revealed reactive woven bone. The patient was referred to a metabolic bone disease clinic, where laboratory values were consistent with secondary hyperparathyroidism and increased bone turnover. A DXA bone density scan revealed high bone density, with an L1-4 spine Z-score of +9.3, a left femoral neck Z-score of +8.5, and a total hip Z-score of +6.5. A dental exam revealed generalized gingival inflammation, teeth mobility, generalized horizontal alveolar bone loss and widening of the periodontal ligament space, increased bone density around the teeth, and thickening of the radicular lamina dura. An extensive evaluation was performed, with the result of a single test revealing the diagnosis. The differential diagnoses of osteosclerosis affecting the skeleton, teeth, and oral cavity are discussed.

Whole-body magnetic resonance imaging for staging Langerhans cell histiocytosis in children and young adults.

Radiographic skeletal survey (R-SS) is the standard imaging technique for the initial staging of Langerhans cell histiocytosis (LCH). Whole-body magnetic resonance imaging (WB-MRI) has been proposed as an effective, radiation-free alternative. We prospectively assessed patients with LCH followed at three tertiary centers in Italy and Austria. Two national study protocols were independently designed, and data were then pooled to increase the power of their findings. R-SS and WB-MRI were performed at diagnosis and repeated at the follow-up to confirm the nature of the identified lesions and to study their evolution. Data from 67 patients were analyzed (52 from Italy and 15 from Austria). Compared to R-SS, WB-MRI identified 29 additional skeletal lesions in 14 patients (including two false-positive lesions). Two skeletal lesions were detected at R-SS and missed at WB-MRI (false negative). Per-lesion sensitivity rates were 78.6% (95% CI: 71.0-85.9) for R-SS and 98.4% (95% CI: 94.4-99.8) for WB-MRI, respectively. Based on WB-MRI findings, six patients would have been upstaged to a higher risk class than staging with R-SS. WB-MRI had a significantly higher detection rate for skeletal lesions compared to R-SS. Clinical and radiology expertise is required to avoid upstaging and overtreatment.

Typical median effective radiation doses using an anthropomorphic bone fracture phantom for initial radiographic skeletal surveys in the investigation of suspected physical abuse

BackgroundA series of 31 radiographs is recommended by the Royal College of Radiologists (RCR) when investigating suspected physical abuse (SPA).ObjectiveTo determine the radiation dose delivered for skeletal surveys performed for SPA in Victorian radiology departments based on their local protocols.Materials and methodsA 5-year-old paediatric bone fracture phantom was radiographed at five radiology sites using both the RCR recommended protocol and, where applicable, the local departmental SPA protocol. The radiation doses were measured and recorded. These were scaled down to estimate the effective radiation doses for a 2-year-old child at each site and the associated radiation risks estimated.ResultsThe median effective dose for all radiographic projections in the RCR skeletal survey radiographic series was 0.09 mSv. The estimated risk of radiation-induced cancer and radiation-induced death from cancer for 2-year-old children is classified as “very low,” with girls having a higher risk than boys.ConclusionThe median effective radiation dose for the RCR skeletal survey for imaging in SPA was 0.09 mSv resulting in a “very low” additional risk of radiation-induced cancer. The authors will now aim to ascertain whether whole-body CT skeletal survey can replace the radiographic series for imaging in SPA while maintaining a comparable radiation dose.

A Case of Erdheim-Chester Disease with Omental Caking Initially Mistaken for a Malignancy

Introduction: Erdheim-Chester disease (ECD) is an uncommon non-Langerhans cell histiocytosis. Bilateral symmetric sclerosis of the long bones and possible multiorgan involvement are the main presentations of this disease. Histologically, lipid-laden foamy histiocytes are positive immunochemically for CD68 (occasionally for PS100) and negative for S100 and CD1a in ECD. Case Presentation: We describe the case of a 35-year-old man diagnosed with ECD with peritoneal and retroperitoneal infiltrations and bone involvement. The diagnosis of ECD was only confirmed after two years of non-specific abdominal pain, nausea, and weight loss. Primarily, the patient’s clinical symptoms and abdominal computed tomography (CT) findings, which indicated omental caking, peritoneal thickening, and perinephric soft tissue density, suggested an intra-abdominal malignancy. Finally, a peritoneal biopsy was carried out, which demonstrated xanthogranulomatous infiltrations from ECD. Further radiographic skeletal survey based on histopathological results showed symmetric osteosclerosis of the long bones. Conclusion: Although ECD, associated with peritoneal and retroperitoneal infiltrations, is an uncommon finding, it should be included in the differential diagnosis of patients with non-specific gastrointestinal manifestations, along with multiorgan involvement and typical radiological findings.

Multi-modality imaging characteristics of costochondral fractures, a highly specific rib fracture for child abuse.

Rib fractures in young children are strongly associated with nonaccidental trauma (NAT). Costochondral junction (CCJ) fractures are unique with most being identified in the healing phase on radiographs. NAT-associated CCJ fractures, therefore, may be underdiagnosed. Improved diagnoses of CCJ fractures may lead to better identification of NAT. To document the association of CCJ fractures with NAT, and improve CCJ fracture recognition by documenting the imaging features with multiple radiologic modalities. Children, ages 0-4years, with CCJ fractures on radiologic reports were identified over a 10-year period. All available radiographic skeletal surveys, chest radiographs, computed tomography (CT), magnetic resonance imaging (MRI) and ultrasound (US) studies were reviewed. We chose CT as the radiologic gold standard. Imaging patterns of the primary fracture and healing changes were documented. The diagnosis of NAT by the child protective team was documented. One hundred and nineCCJfractureswere found in 22 patients, 21 of whom were diagnosed with NAT (95.5%). Radiographic skeletal survey identified 34.6% of CCJ fractures (P < 0.0001) with a sensitivity of 32.5% and specificity of 99.2%. MRI identified 50.0% of CCJ fractures with a sensitivity of 42.9% and specificity of 98.1%. CCJ fractures are highly specific for NAT. As sensitivity is low for radiographic skeletal survey in CCJ fracture diagnosis compared with CT, CT may have a role in confirming a clinical suspicion of NAT.

Amino Acid and Proliferation PET/CT for the Diagnosis of Multiple Myeloma.

Multiple myeloma (MM) is a hematologic malignancy characterized by infiltration of monoclonal plasma cells in the bone marrow (BM). The standard examination performed for the assessment of bone lesions has progressed from radiographic skeletal survey to the more advanced imaging modalities of computed tomography (CT), magnetic resonance imaging (MRI), and positron emission tomography/computed tomography (PET/CT). The Durie-Salmon PLUS staging system (upgraded from the Durie-Salmon staging system) applies 2-[18F]-fluoro-2-deoxy-glucose (18F-FDG) PET/CT, and MRI findings to the staging of MM, and 18F-FDG PET/CT has been incorporated into the International Myeloma Working Group (IMWG) guidelines for the diagnosis and staging of MM. However, 18F-FDG PET/CT has significant limitations in the assessment of diffuse BM infiltration and in the differentiation of MM lesions from inflammatory or infectious lesions. The potential of several new PET tracers that exploit the underlying disease mechanism of MM has been evaluated in terms of improving the diagnosis. L-type amino acid transporter 1 (LAT1), a membrane protein that transports neutral amino acids, is associated with cell proliferation and has strong ability to represent the status of MM. This review evaluates the potential of amino acid and proliferation PET tracers for diagnosis and compares the characteristics and accuracy of non-FDG tracers in the management of patients with MM.

A systematised literature review: Can low-dose whole-body computed tomography replace a radiographic skeletal survey when investigating paediatric non-accidental injury?

• A radiographic skeletal survey is the current ‘gold standard’ for the radiological investigation of suspected non-accidental injury. • No articles discussing the use of whole-body CT skeletal surveys in living children were found. • This empty literature review has identified a gap in knowledge. • Further ethical research should be undertaken to provide the evidence based to support a change in clinical practice.

A survey study investigating perceptions and acceptance of the whole-body imaging techniques used for the diagnosis of myeloma

IntroductionThe purpose of this study was to investigate patient perceptions and acceptance of the three whole-body imaging (WBI) modalities used for diagnosing myeloma; radiographic skeletal survey (RSS), low-dose whole-body computed tomography (LD-WBCT) and whole-body magnetic resonance imaging (WB-MRI). The secondary aim was to explore the factors affecting the acceptance of whole-body imaging for myeloma. Methods60 participants (median age = 58.5 years old) recruited from three NHS trusts and social media completed a survey in which they scored their experiences of each WBI modality on nine 5-point rating scales. Spearman's correlation coefficient, Kruskal–Wallis, Mann–Whitney and Wilcoxon signed-rank tests were used to compare scores between different WBI techniques. Participants were invited to provide additional open text responses for interpretation using thematic analysis. ResultsAll modalities demonstrated high levels of acceptability (median score = 4). WB-MRI was perceived as more stressful (p=<0.01) and claustrophobic (p=<0.01) than RSS and LD-WBCT. Thematic analysis showed patients understood the importance of imaging but had concerns about exacerbated pain and the results. WB-MRI was difficult to tolerate due to its duration. Respondents were averse to the physical manipulation required for RSS while remaining stationary was perceived as a benefit of LD-WBCT and WB-MRI. Staff interactions had both positive and negative effects on acceptance. ConclusionsDespite the psychological and physical burdens of WBI, patients accepted its role in facilitating diagnosis. Staff support is vital for facilitating a positive whole-body imaging experience. Healthcare practitioners can improve WBI acceptance by understanding the burdens imposed by WBI and adopting the personalised care model. Implications for practicePatient experience can be improved by tailoring examinations to individual needs. RSS can be as burdensome as other WBI techniques and could be superseded by LD-WBCT or WB-MRI.

Using Computed Tomography skeletal surveys to evaluate for occult bony injury in suspected non-accidental injury cases - A preliminary experience.

This case series summarises our institution's preliminary experience of using computed tomography skeletal surveys (CT-SS) for the assessment of infants with suspected non-accidental injury (NAI) who were unable to undergo radiographic skeletal surveys (SS). This paper describes our experience using CT-SS in terms of radiation doses achieved, occult bony injury detection and forensic utility. Ten infants aged between two weeks and ten months underwent a CT-SS. The results of the CT-SS were compared with concurrent imaging results where available. Radiation doses from imaging procedures were calculated for each patient. Six infants had abnormalities identified on CT-SS. Two patients had both an ante-mortem CT-SS and post-mortem imaging. All fractures identified on alternate imaging modalities were visible on at least one CT-SS reconstruction. The radiation dose associated with CT-SS imaging ranged from 0.73 to 1.46mSv. The radiation dose received by the ten infants in this study was greater than the two skeletal survey approach but was less than the dose received during a bone scintigraphy examination, sometimes used to assess for occult bony injury in this setting. While CT-SS imaging results could not be compared with those obtained with current contemporaneous gold standard imaging techniques, CT-SS identified all fractures observed on the radiographic images where performed. CT-SS also identified additional rib fractures in two patients. Our preliminary findings indicate the need for future prospective studies to clarify the ability of CT-SS to detect metaphyseal fractures reliably.

Radiation exposure and establishment of diagnostic reference levels of whole-body low-dose CT for the assessment of multiple myeloma with second- and third-generation dual-source CT.

In the assessment of diseases causing skeletal lesions such as multiple myeloma (MM), whole-body low-dose computed tomography (WBLDCT) is a sensitive diagnostic imaging modality, which has the potential to replace the conventional radiographic survey. To optimize radiation protection and examine radiation exposure, and effective and organ doses of WBLDCT using different modern dual-source CT (DSCT) devices, and to establish local diagnostic reference levels (DRL). In this retrospective study, 281 WBLDCT scans of 232 patients performed between January 2017 and April 2020 either on a second- (A) or third-generation (B) DSCT device could be included. Radiation exposure indices and organ and effective doses were calculated using a commercially available automated dose-tracking software based on Monte-Carlo simulation techniques. The radiation exposure indices and effective doses were distributed as follows (median, interquartile range): (A) second-generation DSCT: volume-weighted CT dose index (CTDIvol) 1.78 mGy (1.47-2.17 mGy); dose length product (DLP) 282.8 mGy·cm (224.6-319.4 mGy·cm), effective dose (ED) 1.87 mSv (1.61-2.17 mSv) and (B) third-generation DSCT: CTDIvol 0.56 mGy (0.47-0.67 mGy), DLP 92.0 mGy·cm (73.7-107.6 mGy·cm), ED 0.61 mSv (0.52-0.69 mSv). Radiation exposure indices and effective and organ doses were significantly lower with third-generation DSCT (P < 0.001). Local DRLs could be set for CTDIvol at 0.75 mGy and DLP at 120 mGy·cm. Third-generation DSCT requires significantly lower radiation dose for WBLDCT than second-generation DSCT and has an effective dose below reported doses for radiographic skeletal surveys. To ensure radiation protection, DRLs regarding WBLDCT are required, where our locally determined values may help as benchmarks.

Skeletal staging in Langerhans cell histiocytosis: a multimodality imaging review.

Evaluating the extent of skeletal disease in Langerhans cell histiocytosis (LCH) is a major predictor of patient outcome. Traditionally, whole-body skeletal staging consists of plain radiography and bone scintigraphy. However, more recently whole-body MRI has been shown to be accurate in detecting osseous and extra-osseous lesions, but no large-scale studies analysing its role within the diagnostic algorithm of LCH skeletal staging currently exist. In addition, FDG PET-CT provides useful information regarding disease activity and treatment response, but has an inherent radiation dose which is not ideal in children. Currently, radiographic skeletal survey remains the gold standard with cross-sectional imaging only performed for further characterisation. However, radiographs have shown a wide sensitivity range for skeletal staging and have clear limitations in detecting extra-skeletal disease, a crucial component of stratification in identifying 'at risk' organs. We aim to highlight the various appearances of bony LCH across all the imaging modalities for primary skeletal staging. We will also review the advantages, disadvantages, sensitivity and specificity of each, and establish their role in staging skeletal LCH. Recent studies using whole-body MRI have shown promising results, with radiographs and other modalities playing a more complementary role.

The Role of Low Dose Whole Body CT in the Detection of Progression of Patients with Smoldering Multiple Myeloma

Introduction: Multiple myeloma (MM) is the second most common haematological malignancy and is characterized by bone marrow infiltration of monoclonal plasma cells and end-organ involvement. Smoldering MM (SMM) is an intermediate clinical entity between MGUS and MM, with a risk of progression to symptomatic disease at 10% per year. Bone disease is the most frequent related symptom of MM, with approximately 90% of patients developing bone lesions throughout their disease course. Therefore, imaging plays a crucial role in diagnosis and management of these patients. Conventional radiography was traditionally considered as the standard of care, however the limited sensitivity in detecting osteolytic bone lesions has led to more advanced imaging modalities. Imaging also is of high importance to discriminate MM from smoldering disease, since the presence of bone lesions establishes the diagnosis of active disease and requires treatment initiation. Computed tomography (CT) was found to be the most sensitive modality in detecting small osteolytic bone lesions less than 5 mm. Ionizing radiation exposure was one of the main limitations of this technique. Technological advances have made possible low dose assessment of the entire skeleton with effective radiation doses comparable to those of a whole-body plain radiographic skeletal survey. Furthermore, the low dose CT is widely available and has a very short scan time. Therefore, whole-body low dose CT (WBLDCT) has been incorporated in the latest diagnostic criteria of the IMWG. The purpose of this study was to evaluate the role of WBLDCT in the early identification of patients with asymptomatic MM who progress with bone disease only and who require immediate antimyeloma treatment. Patients and Methods: Our study was approved by the local IRB and all patients provided informed consent. All patients diagnosed with SMM based on the 2003 International Myeloma Working Group (IMWG) definition of SMM were serially assessed with WBLDCT from July 2013 until March 2020 as part of our institutional workup. The assessments were performed at baseline, 1-year post diagnosis and every 1 year thereafter. The patients enrolled in the study were those who had at least 2 consecutive CT assessments at the above described time points. All WBLDCT exams were performed with a 16-detector CT scanner. The CTs were evaluated by two experienced radiologists, blinded to the clinical and laboratory data. RESULTS We prospectively evaluated 100 patients with SMM (median age at diagnosis 61 years, range 40-86 years, 52 female /48 male) who underwent WBLDCT at the above described time points. Median number of WBLDCTs exams performed was 2.5 (range 2-5). Totally, 31 patients progressed (either with CRAB criteria and/or at least one myeloma defining event). During a median follow up of 57 months 31 patients have progressed (with either CRAB criteria and/or at least one myeloma defininf event). Importantly, 10 of 31 patients progressed only with bone lesions that were identified on the scheduled WBLDCT as per protocol. Median time to progression from asymptomatic to symptomatic disease for all patients has not been reached, while median time for those who actually progressed was 22 months (95% CI:15,6-28,4). For the subgroup of patients who progressed with bone lesions only the median time was also 22 months (95%CI:3,4-40,6). Median time to progression was not statistically different between the two progressor subgroups. All patients were initiated with antimyeloma treatment immediately post evolution to symptomatic disease. PFS for all 31 patients at first line treatment was 52 months (95%CI:34,5-69,5) and median PFS for bone progressors has not yet been reached. Among the patients who progressed 29 were alive at the time of the analysis. The 2 deaths that occurred were one related (progressive disease) and one unrelated to multiple myeloma (cardiovascular event). Neither had progressed with isolated bone involvement. Conclusion: In conclusion, our strategy allowed early detection of bone lesions in 10% of our patients and these patients were immediately initiated with antimyeloma treatment to avoid further myeloma-related complications. Consecutive low-dose WBLDCT studies can identify early myeloma evolution to symptomatic disease and optimize the disease monitoring along with our therapeutic strategy. Disclosures Gavriatopoulou: Takeda: Consultancy, Honoraria; Amgen: Consultancy, Honoraria; Karyopharm: Consultancy, Honoraria; Genesis Pharma: Consultancy, Honoraria; Janssen: Consultancy, Honoraria. Kastritis:Amgen: Consultancy, Honoraria, Research Funding; Genesis Pharma: Consultancy, Honoraria, Other: Travel/accommodations/expenses; Janssen: Consultancy, Honoraria, Other: Travel/accommodations/expenses, Research Funding; Pfizer: Consultancy; Takeda: Consultancy, Honoraria, Other: Travel/accommodations/expenses. Terpos:Janssen: Honoraria, Other: travel expenses , Research Funding; Takeda: Honoraria, Other: travel expenses , Research Funding; Celgene: Honoraria; Medison: Honoraria; Amgen: Honoraria, Research Funding; Genesis: Honoraria, Other: travel expenses , Research Funding. Dimopoulos:Celgene: Honoraria; Janssen: Honoraria; Bristol-Myers Squibb: Honoraria; Beigene: Honoraria; Amgen: Honoraria; Takeda: Honoraria.

Radiographic imaging, densitometry and disease severity in Autosomal dominant osteopetrosis type 2.

To characterize relationships between quantitative computed tomography bone mineral density measurements and other qualitative and quantitative imaging measures, as well as clinical metrics, in patients with autosomal dominant osteopetrosis type 2 (ADO2). Clinical and radiologic parameters of 9 adults and 3 children with autosomal dominant osteopetrosis type 2 were assessed including lumbar spine quantitative computed tomography (QCT), radiographic skeletal survey (skull base thickening; Erlenmeyer flask deformity; endobone pattern; and spine density pattern (endplate sclerosis, "anvil" appearance, or diffuse sclerosis)), dual-energy x-ray absorptiometry (DXA), tibial peripheral quantitative computed tomography (pQCT) volumetric bone mineral density (vBMD), bone turnover markers, and bone marrow failure or visual impairment. The skeletal parameter most divergent from normal was lumbar spine QCT Z-score (+ 3.6 to + 38.7). Lumbar QCT Z-score correlated positively with pQCT tibial diaphysis vBMD (Pearson correlation r = 0.73, p = 0.02) and pQCT tibial metaphysis vBMD (r = 0.87, p < 0.01). A trend towards positive lumbar QCT Z-score correlation with serum P1NP/CTX ratio (r = 0.54, p = 0.10) and lumbar DXA Z-score (r = 0.55, p = 0.10) were observed. Bone marrow failure and vision impairment occurred in those with most severe quantitative and qualitative measures, while those with less severe radiographic features had the lowest QCT Z-scores. Lumbar spine QCT provided the most extreme skeletal assessment in ADO2, which correlated positively with other radiologic and clinical markers of disease severity. Given the quantification of trabecular bone and greater variation from normal with wider range of values, lumbar QCT Z-scores may be useful to determine or detect impact of future treatments.

Identifying Predictors of Physical Abuse Evaluation of Injured Infants: Opportunities to Improve Recognition.

To identify predictors of physical abuse evaluation in infants younger than 6 months with visible injury and to determine the prevalence of occult fracture and intracranial hemorrhage in those evaluated. Infants 6.0 months or younger who presented with visible injury to a pediatric hospital-affiliated emergency department or urgent care between July 2013 and January 2017 were included. Potential predictors included sociodemographics, treatment site, provider, injury characteristics, and history. Outcome variables included completion of a radiographic skeletal survey and identification of fracture (suspected or occult) and intracranial hemorrhage. Visible injury was identified in 378 infants, 47% of whom did not receive a skeletal survey. Of those with bruising, burns, or intraoral injuries, skeletal survey was less likely in patients 3 months or older, of black race, presenting to an urgent care or satellite location, evaluated by a non-pediatric emergency medicine-trained physician or nurse practitioner, or with a burn. Of these, 25% had an occult fracture, and 24% had intracranial hemorrhage. Occult fractures were also found in infants with apparently isolated abrasion/laceration (14%), subconjunctival hemorrhage (33%), and scalp hematoma/swelling (13%). About half of preambulatory infants with visible injury were not evaluated for physical abuse. Targeted education is recommended as provider experience and training influenced the likelihood of physical abuse evaluation. Occult fractures and intracranial hemorrhage were often found in infants presenting with seemingly isolated "minor" injuries. Physical abuse should be considered when any injury is identified in an infant younger than 6 months.

Organ dose and total effective dose of whole-body CT in multiple myeloma patients

ObjectiveTo evaluate organ dose and total effective dose of whole-body low-dose CT (WBLDCT) performed on different CT-scanner models in patients with multiple myeloma (MM) and to compare it to the effective dose of radiographic skeletal survey and representative diagnostic CTs.Material and methodsWe retrospectively analyzed data from 228 patients (47.4% females, mean age 67.9 ± 10.4 years, mean weight 81.8 ± 22.4 kg) who underwent WBLDCT for the work-up or surveillance of MM. Patients were scanned using one of six multi-detector CT-scanners. Organ doses and total effective doses per scan were calculated using a commercially available dose-management platform (Radimetrics, Bayer Healthcare, Leverkusen, Germany). The median effective dose was compared to radiographic skeletal survey and representative diagnostic CTs.ResultsThe mean effective dose of our WBLDCT-protocol was 4.82 mSv. A significantly higher effective dose was observed in females compared to males (4.95 vs. 4.70 mSv, P = 0.002). Mean organ dose ranged from 3.72 mSv (esophagus) to 13.09 mSv (skeleton). Mean effective dose varied amongst different CT-scanners (range 4.34–8.37 mSv). The median effective dose of WBLDCT was more than twice the dose of a skeletal survey (4.82 vs. 2.04 mSv), 23% higher than a diagnostic contrast-enhanced chest CT (3.9 mSv), 46% lower than a diagnostic contrast-enhanced abdomen/pelvis CT (9.0 mSv), and 45% lower than a lumbar spine CT (8.7 mSv).ConclusionsWBLDCT in MM has a higher effective dose than a radiographic skeletal survey, but a lower effective dose than diagnostic CTs of lumbar spine, abdomen and pelvis. This underlines the broad applicability of WBLDCT in the management of MM patients.

Simulating Non-accidental Trauma with Worsening Findings: Congenital Syphilis

This is a case report of a pediatric patient that presented to the emergency department following an un-witnessed trauma. The patient’s parent’s provided history was inconclusive with suspicion of non-accidental trauma. Review of the radiological images was performed. An initial radiographic skeletal survey was obtained and demonstrated radiographic findings suggestive of non-accidental trauma. The follow-up radiographic skeletal survey demonstrated a worsening of the prior radiographic findings rather than the expected healing in cases of non-accidental trauma. Specifically, the follow-up radiologic imaging demonstrated an abnormal lucency with medial down-sloping of the proximal tibial metaphysis, representing osseous destruction of the cortex with metaphyseal osteolysis, suggesting the possibility of infectious etiologies. Following review of the radiological images, serology was obtained. Serological markers were obtained and demonstrated active syphilis. Although syphilis has specific radiological findings, it can be initially misinterpreted as non-accidental trauma. This case report reviews the clinical picture, including the history, serology, and radiographic correlation and demonstrates the importance of considering alternative etiologies when evaluating the musculoskeletal system in the pediatric population.

MON-516 Skeletal Fluorosis from Fluorocarbon Inhalation

Background: Skeletal fluorosis (SF) is endemic in many places, especially where well water is rich in fluoride (F) from volcanic rock. SF is rare in the US, where it has unusual causes. The impact of F on the skeleton is conditioned by calcium and vitamin D sufficiency. Clinical Case: A 51-year-old obese man with chronic opiate use was referred for secondary hyperparathyroidism detected after right femoral neck and left proximal femur fractures, and displaced humeral fracture which healed poorly with radial nerve entrapment. Oncologic evaluation was negative, including intraoperative bone biopsy. He reported longstanding diffuse musculoskeletal pain, drank 72 oz of cola daily, and consumed little dietary calcium. Physical exam showed Ht 1.7 m, BMI 46, no dental abnormalities, deformed right humerus, diminished right wrist dorsiflexion, and an antalgic gait. DXA BMD Z-score was +7.4 at the spine and +0.4 at the “1/3” radius. At femur fracture, corrected serum calcium was 7.8 mg/dL (8.5-10.1) and alkaline phosphatase (ALP) 1080 U/L (46-116). After 5 months of calcium and vitamin D supplementation, calcium was 9.4 mg/dL, ALP 539 U/L, phosphorus 3.7 mg/dL (2.3-4.7), 25(OH)D 20.6 ng/mL (30-100), PTH 327 pg/mL (8.7-77.1), and creatinine 0.62 mg/dL (0.72-1.25). Hepatitis C Ab and PSA were normal. Elevated serum C-telopeptide 2513 pg/mL (87-345) and osteocalcin greater than 300 ng/mL (9-38) indicated rapid bone turnover. Bone scan showed increased uptake at the left hip fracture site, 2 ribs, and periarticular areas. Radiographic skeletal survey revealed diffuse osteosclerosis. Mutation analysis for high turnover sclerotic skeletal disease was negative, including examination of OPG, exon 1 of RANK and a NSG high bone mass panel. Initially, F exposure history was negative, however serum and urine F levels were elevated at 118 mcmol/L (0-4) and 42.6 mg/L (0.3-3.2), respectively. His mother confided that he had “huffed” difluoroethane containing computer cleaner for 2 years several times daily to control pain. Subsequently, right femur fracture required intramedullary fixation, several weeks rehabilitation, and generous doses of calcium and vitamin D3. Routine nondecalcified histology showed reactive bone with reticulin and collagen fibrosis. 24-hour urine of 3.43 liters contained calcium less than 68.6 mg and F 91.6 mg (0.2-3.2 mg/L). Conclusion: Inhalant abuse of fluorocarbons is known. However, literature concerning the skeletal effects is scant. Our patient’s positive bone balance together with low calcium intake could explain his secondary hyperparathyroidism. High phosphorus in colas may also have decreased gastrointestinal calcium absorption. Deposition of fluorohydroxyapatite in the skeleton likely explained our patient’s skeletal fragility.

Comparison of whole-body MRI, bone scan, and radiographic skeletal survey for lesion detection and risk stratification of Langerhans Cell Histiocytosis

Accurate risk stratification according to the extent of Langerhans cell histiocytosis (LCH) determined on whole-body evaluation is important for determining the treatment plans and prognosis in patients with LCH. This study aimed to compare the lesion detectability and the accuracy of risk stratification of skeletal survey, bone scan, and whole-body magnetic resonance imaging (WB-MRI) in patients with LCH. Patients with newly-diagnosed LCH who underwent all three imaging modalities were retrospectively included (n = 46). The sensitivity and mean number of false-positives per patient for LCH lesions, and the accuracy of risk stratification of each modality were assessed. WB-MRI had significantly higher sensitivity (99.0%; 95% confidence interval, 93.2–99.9%) than skeletal survey (56.6%; p < 0.0001) and bone scan (38.4%; p < 0.0001) for LCH lesions, and there were no significant differences in the number of false-positives per patient (p > 0.017). WB-MRI tended to have higher accuracy for the risk stratification than skeletal survey and bone scan (concordance rate of 0.98, 0.91, and 0.83, respectively), although the differences were not significant (overall p-value 0.066). In conclusion, WB-MRI had higher detectability for LCH lesions than skeletal survey and bone scan, while the three whole-body imaging modalities had comparable accuracy in the initial risk stratification of LCH.

269: Chondrodysplasia punctata associated with maternal hyperemesis gravidarum: A variable and potentially preventable phenotype

Chondrodysplasia punctata (CDP) is a disorder characterized by early and inappropriate calcification within growing cartilage. CDP is seen in a genetically heterogeneous group of disorders, some of which involve the vitamin K pathway. Several maternal conditions have also been associated with the CDP phenotype in infants. We report three unrelated patients with variable skeletal features of CDP in whom maternal pregnancy history was suggestive of vitamin K deficiency due to hyperemesis gravidarum (HG). We suggest vitamin K supplementation early in the course of HG in order to prevent this clinically variable but potentially fatal condition in infants. Retrospective review of patients with CDP seen at our institution from January 2013 through June 2017 was performed. We identified three African-American female neonates with CDP in whom all biochemical and gene testing was negative. In all three, severe maternal hyperemesis gravidarum was noted during the first trimester. We reviewed the pregnancy history and postnatal course of all three babies, including biochemical and genetic test results as well as findings on radiographic skeletal survey, CT, and MRI when performed. All imaging findings were reviewed by an experienced pediatric radiologist. Skeletal survey in Patient 1 showed nasal flattening, brachytelephalangy of hands and feet, numerous spinal and epiphyseal puncta. CT and MRI showed severe nasal aperture stenosis, critical cervical spinal stenosis, and myelomalacia of the upper cervical cord. She expired at 3.5 months of age. Patient 2 had nasal flattening and additional features of congenital heart disease. Skeletal survey showed numerous epiphyseal and paraspinal puncta, as well as brachytelephalangy. CT and MRI demonstrated moderate upper cervical spinal canal stenosis, nasal aperture stenosis, and bilateral grey matter heterotopias. Skeletal survey in Patient 3 showed nasal flattening, numerous epiphyseal and paraspinal puncta, as well as brachytelephalangy. CT and MRI are pending. CDP may be seen in infants of mothers with HG, which can result in maternal-fetal vitamin K deficiency. Vitamin K deficiency is hypothesized to cause CDP when it occurs between 6-9 weeks gestation. This CDP phenotype may be preventable with maternal vitamin K supplementation early in the course of HG.View Large Image Figure ViewerDownload Hi-res image Download (PPT)

Double-read of skeletal surveys in suspected non-accidental trauma: what we learned.

Missing a fracture in a child on skeletal surveys for suspected non-accidental trauma can have devastating results. Double-read has the potential to improve fracture detection. However the yield of double-read is unknown. To determine the advantage of double-read versus single-read of radiographic skeletal surveys for suspected non-accidental trauma. The study was performed in two phases. In the first phase (April 2013 to September 2013), double-read was performed for all skeletal surveys obtained during weekday working hours. Because we had no new double-read findings in studies initially read as negative, we conducted a second phase (January 2014 to March 2014). In the second phase we limited double-reads to skeletal surveys found positive on the first read. At the end of this period, we retrospectively performed double-read for all initially negative skeletal surveys. We excluded follow-up skeletal surveys. The difference in discrepancy (new fracture or false diagnosis of a fracture) ratio between negative and positive skeletal surveys was evaluated using the Fisher exact test, and change in discrepancy ratio between the first and second study phases was evaluated using the stratified Cochran-Mantel-Haenszel test. Overall in the two phases, 178 skeletal surveys were performed in 178 children (67 girls) with mean age of 9months (range 3days to 3.7years). Double-read found 16 discrepancies in 8/178 (4.5%) skeletal surveys. Seven of these studies showed additional fractures (n=15). In one study, an initial read of a skull fracture was read as a variant on the second read. There was a significant (P=0.01) difference between rate of disagreement in negative skeletal surveys (1/104, 1.0%) and positive skeletal surveys (7/74, 9.5%). No significant change in disagreement rate was demonstrated between the two phases of the study (P=0.59). Double-read of skeletal survey for suspected non-accidental trauma found false-negative fractures in a few cases and rarely found false-positive diagnosis of a fracture. Double-read uncommonly found discrepancies in an initially normal skeletal survey. Limiting double-read to initially positive studies improves the yield of the double-read.