Cerebrotendinous Xanthomatosis patients with late diagnosed in single orthopedic clinic: two novel variants in the CYP27A1 gene.

BACKGROUND: Cerebrotendinous Xanthomatosis (CTX) is a rare autosomal recessive lipid storage disorder caused by loss of function variants in the CYP27A1 gene which encodes sterol 27-hydroxylase, on chromosome 2q35. Although the symptoms begin commonly in infancy, CTX diagnosis is often delayed. The aim of this study is to review the orthopedic findings of the disease by providing an overview of the clinical features of the disease. It is to raise awareness of this condition for which early diagnosis and treatment are important. METHODS: We retrospectively evaluated the clinical, laboratory, radiological, and genetic findings of eight patients from four families who were admitted to our Orthopedics and Traumatology Department between 2017 and 2022 due to bilateral Achilles tendon xanthomas, were found to have high cholestanol and CYP27A1 gene mutations. RESULTS: The mean age of patients was 37, and five of them were male. The mean age at the onset of symptoms was 9.25 years. The mean age of initial diagnosis was 33.75 years. Between symptom onset and clinical diagnosis, an average delay of 24.5 years was observed. All patients had bilateral Achilles tendon xanthoma. Notably, a novel variant (c.670_671delAA) in CYP27A1 gene was identified in three patients who also presented with peripheral neuropathy and bilateral pes cavus. One patient had osteoporosis and four patients had osteopenia. Five patients had a history of bilateral cataracts. Furthermore, three of the patients had early-onset chronic diarrhea and three of the patients had ataxia. Two of the patients had epilepsy and seven of the patients had behavior-personality disorder. All patients had low intelligence, but none of them had cardiac disease. CONCLUSION: We present the diagnostic process and clinical features which the largest CTX case series ever reported from single orthopedic clinic. We suggest that patients with normal cholesterol levels presenting with xanthoma being genetically analyzed by testing at their serum cholestanol level, and that all siblings of patients diagnosed with CTX be examined.

Cerebrospinal Fluid Dynamics in Patients with Multiple Sclerosis: The Role of Phase-Contrast MRI in the Differential Diagnosis of Active and Chronic Disease.

Objective: Multiple sclerosis (MS) is an inflammatory disease characterized by demyelinating plaques in the white matter. Chronic cerebrospinal venous insufficiency (CCSVI) has been proposed as a new hypothesis for the etiopathogenesis of MS disease. MS-CCSVI includes a significant decrease of cerebrospinal fluid (CSF) flow through the cerebral aqueduct secondary to an impaired venous outflow from the central nervous system. This study aimed to determine whether CSF flow dynamics are affected in MS patients and the contributions to differential diagnosis in active and chronic disease using phase-contrast magnetic resonance imaging (PC-MRI). Materials and Methods: We studied 16 MS patients with chronic plaques (group 1), 16 MS patients with active plaques-enhanced on MRI (group 2), and 16 healthy controls (group 3). Quantitatively evaluation of the CSF flow was performed from the level of the cerebral aqueduct by PC-MRI. According to heart rates, 14-30 images were obtained in a cardiac cycle. Cardiac triggering was performed prospectively using finger plethysmography. Results: No statistically significant difference was found between the groups regarding average velocity, net forward volume and the average flow (p > 0.05). Compared with the controls, group 1 and group 2, showed a higher peak velocity (5.5 ± 1.4, 4.9 ± 1.0, and 4.3 ± 1.3 cm/sec, respectively; p = 0.040), aqueductal area (5.0 ± 1.3, 4.1 ± 1.5, and 3.1 ± 1.2 mm2, respectively; p = 0.002), forward volume (0.039 ± 0.016, 0.031 ± 0.013, and 0.021 ± 0.010 mL, respectively; p = 0.002) and reverse volume (0.027 ± 0.016, 0.018 ± 0.009, and 0.012 ± 0.006 mL, respectively; p = 0.000). There were no statistical significance between the MS patients with chronic plaques and active plaques except for reverse volume. The MS patients with chronic plaques showed a significantly higher reverse volume (p = 0.000). Conclusion: This study indicated that CSF flow is affected in MS patients, contrary to the hypothesis that CCSVI-induced CSF flow decreases in MS patients. These findings may be explained by atrophy-dependent ventricular dilatation, which may occur at every stage of MS.

Isolated Tuberculosis of Capitate and Triquetrum.

Musculoskeletal system is involved in about 20% of the patients diagnosed with tuberculosis. Although musculoskeletal tuberculosis generally affects spine and large joints (hip and knee), hand involvement of the tuberculosis is seen in 10% of the patients with musculoskeletal involvement and also isolated tuberculosis of hand or wrist is much rarer. In the following report, we discuss the case of a 23-year-old male patient who was diagnosed with isolated tuberculosis of the capitate and triquetrum bone. The patient presented with a nonhealing sinus on the left wrist joint. Imaging revealed lytic lesions of the capitate and triquetrum. The diagnosis of tuberculosis was confirmed by histopathological examination on the bone specimen obtained from the debridement and curettage. Antituberculosis therapy was started postoperatively and 1 month later, healing of the sinus was observed. There was no sign of reactivation seen at follow-up 22 months after treatment.

The evaluation of non-ischemic dilated cardiomyopathy with T1 mapping and ECV methods using 3T cardiac MRI.

PURPOSE: The aim of this study was to examine the correlation between ventricular function and the extracellular volume fraction (ECV) in patients with non-ischemic dilated cardiomyopathy (NIDCM) using 3.0 T magnetic resonance imaging (MRI). We also hypothesized that native T1 and ECV values would be increased in patients with NIDCM, independent of the left ventricular ejection fraction (LVEF). The findings of our study could lead to further studies of the follow-up protocols. MATERIALS AND METHODS: In total, 53 consecutive dilated cardiomyopathy patients who had undergone cardiac MRI were functionally evaluated and underwent tissue characterization. RESULTS: The mean native T1 value was 1235 ± 10 ms, and the mean ECV value was 35.4 ± 2.7% in the myocardia. The LVEF values ranged from 29 to 44%. No significant correlations were observed between functional analysis measurements and native T1 or ECV values. CONCLUSIONS: Our results showed that myocardial fibrosis is unrelated to cardiac functional findings in NIDCM patients. Therefore, we propose that these patients should be evaluated using MRI and tissue characterization techniques, in addition to cardiac functional analysis.

Langerhans Cell Histiocytosis with Atypical Intervertebral Disc and Sacroiliac Joint Involvement Mimicking Osteoarticular Tuberculosis in an Adult.

BACKGROUND: Langerhans cell histiocytosis (LCH), typically found in children, is a rare single or multisystem disorder with a wide range of clinical and radiological manifestations. Unusual presentations of LCH are occasionally encountered and it may be difficult to distinguish LCH from an infection or a benign or malignant tumor. RESULTS: A 35-year-old female presented with pain in her back and left buttock, malaise, and weight loss, with a duration of several months. Her laboratory test results were within the normal ranges except for the levels of acute phase reactants, which were elevated. Magnetic resonance imaging and computed tomography revealed a unilateral destructive sacroiliac lesion, and multiple vertebral lesions with adjacent discal involvement and extensive soft tissue extensions. She was initially misdiagnosed with multifocal osteoarticular tuberculosis. An open biopsy and joint curettage was performed. Histopathological examination showed that she had LCH. CONCLUSION: To the best of our knowledge, this is the first case of LCH associated with a destructive unilateral sacroiliac lesion, discal involvement, and involvement of the adjacent vertebrae, in an adult patient; the LCH mimicked osteoarticular tuberculosis. Disease onset in adulthood is rare, and this can potentially delay diagnosis. Familiarity with the imaging features of unusual LCH manifestations is necessary to ensure accurate diagnosis and appropriate treatment.

Sudden-onset paraplegia during pregnancy caused by haemorrhage in a spinal cord haemangioblastoma: A case report.

Spinal cord haemangioblastomas are rare central nervous systems tumours, and haemorrhage.It is an uncommon occurance. We report a 28-year-old pregnant patient who presented with paraplegia due to acute haemorrhage of a spinal haemangioblastoma. Magnetic resonance imaging showed extensive syrinx cavities, an intramedullary lesion at the T4-T5 spinal cord level e, and a subarachnoid haemorrhage. Digital subtraction angiography showed the feeding artery and dilated tortuous draining vein within the dural sac. The lesion was deemed a haemangioblastoma. The histopathological examination confirmed the diagnosis. Postoperatively, the paraplegia improved and the patient was able to walk within 2 weeks. Imaging is important for early diagnosis to prevent patients persistent neurological deficits.

MRI of lower extremity impingement and friction syndromes in children.

Although generally more common in adults, lower extremity impingement and friction syndromes are also observed in the pediatric age group. Encompassing femoroacetabular impingement, iliopsoas impingement, subspine impingement, and ischiofemoral impingement around the hip; patellar tendon-lateral femoral condyle friction syndrome; iliotibial band friction syndrome; and medial synovial plica syndrome in the knee as well as talocalcaneal impingement on the hindfoot, these syndromes frequently cause pain and may mimic other, and occasionally more ominous, conditions in children. Magnetic resonance imaging (MRI) plays a key role in the diagnosis of musculoskeletal impingement and friction syndromes. Iliopsoas, subspine, and ischiofemoral impingements have been recently described, while some features of femoroacetabular and talocalcaneal impingements have recently gained increased relevance in the pediatric population. Fellowship-trained pediatric radiologists and radiologists with imaging workloads of exclusively or overwhelmingly pediatric patients (particularly those without a structured musculoskeletal imaging program as part of their imaging training) specifically need to be aware of these rare syndromes that mostly have quite characteristic imaging findings. This review highlights MRI features of lower extremity impingement and friction syndromes in children and provides updated pertinent pathophysiologic and clinical data.

Diffusion-weighted imaging (DWI) of the liver in assessing chronic liver disease: effects of the presence and the degree of ascites on ADC values.

PURPOSE: The aim of this study was to determine the correlation between the liver and spleen apparent diffusion coefficient (ADC) values of patients with chronic liver disease and the presence and the degree of ascites. MATERIALS AND METHOD: In this retrospective study, we assessed 107 patients with chronic liver disease and 39 control subjects who underwent upper abdominal MR imaging including echo-planar diffusion-weighted imaging (DWI). Among the 107 cirrhotic patients, 56 were classified as group 1, 25 as group 2, and 26 as group 3 according to the absence, the presence of minimal, and the presence of massive ascites, respectively. The scores of model for end-stage liver disease (MELD) were matched between groups as the standard reference. The liver ADC, spleen ADC, and normalized liver ADC values were compared between the control group and patients' groups. RESULTS: Patients with massive ascites had significantly higher MELD score compared with the other groups. The MELD score was also significantly higher in patient groups than in control group. The liver and normalized liver ADCs of patients' groups were significantly lower than that of the control group. With some overlap among groups, the measured ADC values decreased as the amount of the ascites increased, and these relationships were statistically significant. Furthermore, compared to control group, patients with massive ascites had significantly higher spleen ADCs. CONCLUSION: Our results indicate that the ADC value of the liver and spleen correlates with the presence and the degree of ascites in patients with chronic liver disease, and merits further study.

Assessment of myocardial changes in athletes with native T1 mapping and cardiac functional evaluation using 3 T MRI.

Intensive physical exercise leads to increases in left ventricular muscle mass and wall thickness. Cardiac magnetic resonance imaging allows the assessment of functional and morphological changes in an athlete's heart. In addition, a native T1 mapping technique has been suggested as a non-contrast method to detect myocardial fibrosis. The aim of this study was to show the correlation between athletes' cardiac modifications and myocardial fibrosis with a native T1 mapping technique. A total of 41 healthy non-athletic control subjects and 46 athletes underwent CMR imaging. After the functional and morphological assessments, native T1 mapping was performed in all subjects using 3.0 T magnetic resonance imaging. Most of the CMR findings were significantly higher in athletes who had ≥5 years of sports activity when compared with non-athletic controls and athletes who had <5 years of sports activity. Significantly higher results were shown in native T1 values in athletes who had <5 years of sports activity, but there were no significant differences in the left ventricular end-diastolic volume, left ventricular end-diastolic mass, or interventricular septal wall thickness between non-athletic controls and athletes who had <5 years of sports activity. The native T1 mapping technique has the potential to discriminate myocardial fibrotic changes in athletes when compared to a normal myocardium. The T1 mapping method might be a feasible technique to evaluate athletes because it does not involve contrast, is non-invasive and allows for easy evaluation of myocardial remodeling.

Unusual Symptomatic Multipartite Patella Associated with Quadriceps Fat Pad Edema.

Partite patella is a known cause of anterior knee pain, especially in adolescents and young males, although most patients are asymptomatic. Symptomatic partite patella is usually revealed on magnetic resonance imaging (MRI) as bone marrow edema within the opposing bone fragments. We present a case of unusual bilateral symptomatic multipartite patella in an adult who presented with quadriceps fat pad edema and mass effect as well as slightly edematous signal changes within the bone fragments on MRI. This case indicates that symptomatic partite patella can also present with edema-like imaging findings in the adjacent soft tissue due to chronic mechanical irritation.

Congenital Agenesis of Right Internal Carotid Artery: A Report of Two Cases.

Congenital unilateral agenesis of the internal carotid artery (ICA) is a rare anomaly. Due to proper sufficient collateral circulation via the circle of Willis most cases are asymptomatic, but patients can also present with ischemic or hemorrhagic cerebrovascular insults. The absence of the bony carotid canal is essential to differentiate this anomaly from chronic ICA occlusion. Awareness of this situation by clinicians and radiologists is essential because these patients have an increased incidence of various intracranial pathologies. We report two cases of this rare developmental congenital abnormality occurring in two young patients and describe the presentation, diagnosis, determined developmental causes, imaging findings, and complications.

Ultrasonography-Guided Injection for Quadriceps Fat Pad Edema: Preliminary Report of a Six-Month Clinical and Radiological Follow-Up.

PURPOSE: To investigate efficacy and safety of ultrasonography-guided local corticosteroid and anesthetic injection followed by physical therapy for the management of quadriceps fat pad (QFP) edema. MATERIALS AND METHODS: We prospectively evaluated 1671 knee MRI examinations in 1542 patients for QFP edema with mass effect, which was present in 109 (6.5%) knees. Participants were assigned into injection and therapy groups (both received the same physical therapy program). Injection group was first treated with ultrasonography-guided QFP injection of 1 mL corticosteroid and 1 mL local anesthetic agent. Patients were evaluated at baseline and 1-, 2-, 6-month follow-up for pain using static and dynamic visual analogue scale (VAS), suprapatellar tenderness, and QFP edema on MRI. RESULTS: Final sample size consisted of 19 knees (injection group, 10; therapy group, 9) in 17 patients. An overall improvement was detected in both groups between baseline and final assessments. The injection group fared better than the therapy group in static VAS scores (3.33 ± 1.70 versus 0.56 ± 1.33), while there was no such difference for dynamic VAS. Incidence of suprapatellar tenderness decreased in both groups, statistically significantly in the injection group (from 100% to 0%). Pain reduction was greater in the injection group at the first month (88.9% - 90% good response versus 50% - 66.7% good response, static-dynamic VAS scoring, respectively), whereas there was no such superiority at the sixth month. No severe adverse events were identified. CONCLUSION: Ultrasonography-guided local injection followed by physical therapy is safe in the management of QFP edema; however, it is not superior to stand-alone physical therapy program in the long term.

Image-guided percutaneous bone biopsy with a simulated van sonnenberg removable hub system.

OBJECTIVE: To retrospectively examine the success and complication rates associated with image-guided percutaneous bone biopsy with a simulated Van Sonnenberg removable hub system. MATERIALS AND METHODS: During a 3.5-year period, 27 bone lesions at different anatomic locations with an indication for biopsy based on plain film, computed tomography (CT) and/or magnetic resonance imaging (MRI) findings were determined, and a total of 28 image-guided (fluoroscopy or CT) percutaneous biopsies were performed using a simulated Van Sonnenberg -removable hub system. This technique entailed the use of a cut-out Chiba needle hub that performed as a guide for the insertion of a larger needle. Either core and aspiration biopsy or core biopsy alone was utilized. RESULTS: The procedure yielded diagnostic material 89% of the cases (48% infection, 22% benign lesions, and 19% malignant lesions). Combined use of core and aspiration biopsy resulted in a higher diagnostic accuracy as compared to core biopsy alone. No false positive or false negative diagnoses were observed. No serious complications such as neurological deficits, bleeding, or organ injury were observed. CONCLUSION: The simulated Van Sonnenberg removable hub system provides a useful technique for percutaneous bone biopsies and is particulary suitable for deep seated (such as vertebral) lesions with its ability to facilitate the accessibility of the lesion with its built-in guidance needle. The procedure is safe in light of the literature data.

A critical overview of the imaging arm of the ASAS criteria for diagnosing axial spondyloarthritis: what the radiologist should know.

The Assessment in SpondyloArthritis international Society (ASAS) defined new criteria in 2009 for the classification of axial spondyloarthritis (SpA) in patients with ≥ 3 months of back pain who were aged <45 years at the onset of back pain. This represents a culmination of a number of efforts in the last 30 years starting with the 1984 modified New York criteria for ankylosing spondylitis, followed by the 1990 Amor criteria and the 1991 European Spondyloarthropathy Study Group criteria for SpA. The importance of new ASAS criteria for radiologists is that magnetic resonance imaging (MRI) takes center stage and is one of the major criteria for the diagnosis of axial SpA when active (or acute) inflammation is present on MRI that is highly suggestive of sacroiliitis associated with SpA. According to the new criteria, sacroiliitis on imaging plus ≥ 1 SpA features (such as inflammatory back pain, arthritis, heel enthesitis, uveitis, dactylitis, psoriasis, Crohn's disease/colitis, good response to non-steroidal anti-inflammatory drugs, family history for SpA, HLA-B27 positivity, or elevated C-reactive protein) is sufficient to make the diagnosis of axial SpA. A number of rules and pitfalls, however, are present in the diagnosis of active sacroiliitis on MRI. These points are highlighted in this review, and a potential shortcoming of the imaging arm of the ASAS criteria is addressed.