Skeletal changes in Refsum''s disease

Refsum's disease is a rare inherited disease of lipid metabolism. The cardinal diagnostic features include polyneuritis, cerebellar ataxia, an atypical pigmentosa and a high CSF protein. The disorders is accompanied by the accumulation in the tissues, especially the liver and kidneys, of the lipid 'phytanic acid'. The disease is due to the absence of the enzyme phytanic acid alpha-hydroxylase which catalyses the conversion of phytanic acid to alpha-hydroxy phytanic acid the initial step in its further metabolism. In his original monograph Refsum (1945) documented a number of skeletal abnormalities and the full spectrum of changes that occur has become clear though the accumulating subsequent reports. This paper documents the osseous changes in three members with the disease in a single family. These include epiphyseal dysplasia, especially pronounced in the knees, and shortening and deformity of many of the tubular bones in the hands and feet.     

MR imaging in the differential diagnosis of scrotal and testicular disease

It is frequently impossible to discriminate between various causes of scrotal pain and swelling by means of clinical examination and ultrasound (US) alone. Surgical exploration is necessary in cases of indefinite differential diagnosis. For evaluation of the diagnostic potential of magnetic resonance (MR) imaging in scrotal disease, 200 patients with testicular abnormalities were studied. For 74 of these patients, the diagnosis was cancer, based on clinical and US findings. MR imaging demonstrated malignant disease in 54 patients and benign disease in 20. All of the MR imaging findings were confirmed at surgical biopsy. Despite high costs of the procedure, the authors believe that MR imaging is a useful aid for diagnosis in cases of indefinite findings in scrotal and testicular disease.     

MR imaging and CT of vascular anomalies and connections in patients with congenital heart disease: significance in surgical planning.

To plan effective management of congenital heart disease, one needs the clearest understanding of the anatomy. Although echocardiography and angiography are the dominant imaging modalities in patients with congenital heart disease, magnetic resonance (MR) imaging and computed tomography (CT) are valuable noninvasive adjuncts. MR imaging and CT are effective in demonstrating the complex cardiovascular morphology present in congenital heart disease, especially the extracardiac morphology. In patients with tetralogy of Fallot with complex pulmonary artery anatomy, MR imaging and CT are useful in demonstrating the pulmonary artery anatomy, along with the significant aortopulmonary collateral vessels. In the heterotaxy syndromes, patients often have unusual atriovenous connections. MR imaging allows accurate identification of the hepatic, systemic, and pulmonary veins and their relationships to both atria. CT and MR are the imaging modalities of choice in a patient who is thought to have a vascular ring. Treatment of aortic coarctation is usually performed on the basis of typical clinical and echocardiographic findings. In patients with atypical clinical or echocardiographic findings, MR imaging and CT yield helpful information that can change the treatment plan. The enhanced preoperative understanding of congenital heart disease provided by MR imaging and CT simplifies surgical decision making and consequently may improve outcome.     

MR imaging of the brain in Wilson disease of childhood: findings before and after treatment with clinical correlation

BACKGROUND AND PURPOSE: Although brain MR imaging findings in adult Wilson disease have been described in considerable detail, a paucity of information currently exists regarding brain MR imaging findings in pediatric Wilson disease. The purpose of this study was to analyze the brain MR imaging findings in Wilson disease of childhood at the initial stage and during follow-up after treatment and to correlate these observations with clinical response. METHODS: We evaluated 50 patients with pediatric Wilson disease. Fifty initial and 20 follow-up MR images from 15 patients following penicillamine treatment were analyzed retrospectively, and the data were correlated with clinical findings. RESULTS: Patients were categorized into 3 groups on the basis of initial MR imaging findings. Group I (n = 23) showed normal MR imaging findings. Group II (n = 15) was characterized by T1-weighted images with increased signal intensity in the globus pallidus (n = 15, 100%) followed by the putamen, midbrain, and caudate nucleus. Group III (n = 12) demonstrated T2-weighted images with increased signal intensity in the putamen (n = 10, 83%), followed by the caudate nucleus, globus pallidus, thalamus, midbrain, and pons. There was a significant difference in mean age, the presence of neurologic symptoms, and Child-Pugh classification among the 3 groups (P < .001). Following copper chelating therapy, the changes on follow-up MR imaging were strongly correlated with clinical response to treatment (P < .001). CONCLUSION: Brain MR imaging in children with Wilson disease can be categorized into distinct groups and demonstrated a significant correlation with clinical findings. Interval changes on follow-up MR imaging were also closely correlated with clinical findings and helpful in assessing the clinical response.     

Cranial ultrasound in metabolic disorders presenting in the neonatal period: characteristic features and comparison with MR imaging

BACKGROUND AND PURPOSE: Brain imaging is an integral part of the diagnostic work-up for metabolic disorders, and the bedside availability of cranial ultrasonography (cUS) allows very early brain imaging in symptomatic neonates. Our aim was to investigate the role and range of abnormalities seen on cUS in neonates presenting with metabolic disorders. A secondary aim, when possible, was to address the question of whether brain MR imaging is more informative by comparing cUS to MR imaging findings. MATERIALS AND METHODS: Neonates with a metabolic disorder who had at least 1 cUS scan were eligible. cUS images were reviewed for anatomic and maturation features, cysts, calcium, and other abnormalities. When an MR imaging scan had been obtained, both sets of images were compared. RESULTS: Fifty-five infants (35 also had MR imaging) were studied. The most frequent findings were in oxidative phosphorylation disorders (21 cUS and 12 MR imaging): ventricular dilation (11 cUS and 6 MR imaging), germinolytic cysts (GLCs; 7 cUS and 5 MR imaging), and abnormal white matter (7 cUS and 6 MR imaging); in peroxisomal biogenesis disorders (13 cUS and 9 MR imaging): GLCs (10 cUS and 6 MR imaging), ventricular dilation (10 cUS and 5 MR imaging), abnormal cortical folding (8 cUS and 7 MR imaging), and lenticulostriate vasculopathy (8 cUS); in amino acid metabolism and urea cycle disorders (14 cUS and 11 MR imaging): abnormal cortical folding (9 cUS and 4 MR imaging), abnormal white matter (8 cUS and 8 MR imaging), and hypoplasia of the corpus callosum (7 cUS and 6 MR imaging); in organic acid disorders (4 cUS and 2 MR imaging): periventricular white matter echogenicity (2 cUS and 1 MR imaging); and in other disorders (3 cUS and 1 MR imaging): ventricular dilation (2 cUS and 1 MR imaging). cUS findings were consistent with MR imaging findings. cUS was better for visualizing GLCs and calcification. MR imaging was more sensitive for subtle tissue signal intensity changes in the white matter and abnormality in areas difficult to visualize with cUS, though abnormalities of cortical folding suggestive of polymicrogyria were seen on cUS. CONCLUSION: A wide range of abnormalities is seen using cUS in neonatal metabolic disorders. cUS is a reliable bedside tool for early detection of cysts, calcium, structural brain abnormalities, and white matter echogenicity, all suggestive of metabolic disorders.     

Hirayama flexion myelopathy: neutral-position MR imaging findings--importance of loss of attachment

PURPOSE: To investigate the sensitivity and specificity of various neutral-position magnetic resonance (MR) imaging findings in the diagnosis of Hirayama flexion myelopathy. MATERIALS AND METHODS: The neutral-position cervical MR images of 46 patients and 51 control subjects were evaluated for the following findings: localized lower cervical cord atrophy, asymmetric cord flattening, abnormal cervical curvature, loss of attachment (LOA) between the posterior dural sac and subjacent lamina, and noncompressed intramedullary high signal intensity on T2-weighted MR images. The difference in frequency of these findings between the control and patient groups was examined by means of the chi(2) test. The sensitivity, specificity, accuracy, positive predictive value, and negative predictive value of these MR imaging findings in the diagnosis Hirayama disease were calculated. Multivariate analysis of these findings was also performed. RESULTS: There was a significant difference in the frequency of these MR imaging findings between the control and patient groups (all comparisons, P 相似文献   

Clinical evaluation of choline measurement by proton MR spectroscopy in patients with malignant tumors

PURPOSE: To examine whether choline measurement by proton magnetic resonance (MR) spectroscopy in patients with malignant tumors is clinically meaningful in addition to routine MR imaging. MATERIALS AND METHODS: MR spectroscopy and MR imaging were performed in 27 consecutive patients with suspected malignant disease. Malignancy was assessed based on total choline compound levels using proton MR spectroscopy, and the results were compared with MR imaging findings. RESULTS: The sensitivity of MR imaging (84%, 21/25) was not significantly different from that of MR spectroscopy (88%, 22/25) among the 25 actual malignant diseases. Both MR imaging and MR spectroscopy produced two false-negative results. In one case, MR spectroscopy produced a false-negative result, whereas MR imaging produced a true-positive result. In two cases of benign breast disease, MR imaging produced false-positive results. MR spectroscopy produced one true-negative result and one false-positive result. CONCLUSION: Although choline measurement by MR spectroscopy is a useful tool in the evaluation of malignant disease, it should be reserved for patients with suspected malignant disease that cannot be detected by MR imaging, such as those with non-palpable prostate tumor with elevated sPSA levels.     

Paget disease: MR imaging findings

Magnetic resonance (MR) images of 13 patients with Paget disease were reviewed, and findings were correlated with those from computed tomographic (CT) scans, radiographs, and, in two patients, surgical biopsy. MR imaging findings correlated with CT and radiographic findings of cortical thickening, increased size of bone, and coarse thickened trabeculae. Focal or diffuse decreased signal intensity, representing dense bone, was seen on images obtained with short and long repetition times (TRs) and echo times (TEs); high-signal foci, representing fat collections, were seen on short TR/TE images; and high-signal foci, representing fibrovascular marrow in active Paget disease, were seen on long TR/TE images. Complications of Paget disease-including basilar invagination, spinal stenosis, and sarcoma--were well identified on MR images. Although MR imaging is not generally used in diagnosis of Paget disease, the disease will be encountered more frequently as more MR imaging examinations are performed. An awareness of the range of findings in Paget disease is useful in evaluating MR images of the musculoskeletal and other systems.     

Magnetic resonance imaging of mesenrhombencephalitis

Mesenrhombencephalitis is a rare inflammatory process involving the midbrain, pons, and medulla. The diagnosis is difficult as clinical and laboratory findings may be nonspecific. Magnetic resonance (MR) imaging demonstrates abnormal T2 signal in the brainstem, which can suggest the diagnosis. The clinical, laboratory and MR imaging findings are described in five patients with this serious, life-threatening disease. MR imaging can be of value in the early diagnosis of this rare disorder.     

Glutaric aciduria type I: value of diffusion-weighted magnetic resonance imaging for diagnosing acute striatal necrosis

Glutaric aciduria type I is a rare disorder of organic acid metabolism caused by deficiency of glutaryl-CoA dehydrogenase. We report the cranial computed tomography (CT) and magnetic resonance (MR) imaging findings in a 5-month-old girl with this disorder who presented with an acute dystonic syndrome. CT findings demonstrated only subtle loss of attenuation in the basal ganglia, MR spectroscopy was normal, and conventional MR images showed increased T2-signal limited to the putamina. Diffusion-weighted MR imaging demonstrated more extensive disease than was apparent either on CT or on the conventional MR images, including bilateral involvement of the putamina, globus pallidus, and caudate nuclei, consistent with acute necrosis of the corpus striatum and lentiform nuclei.     

Imaging the testis: comparison between MR imaging and US

The potential role of magnetic resonance (MR) imaging in the diagnosis and local staging of testicular tumors was evaluated in 23 patients who subsequently underwent surgery or biopsy. Findings at MR imaging were compared with those at ultrasonography (US) and were correlated with the surgical-histologic findings. At surgery, three patients were found to have extratesticular and 20 patients intratesticular abnormalities. This distinction had been correctly made with both imaging modalities, but US did not demonstrate the intratesticular abnormality in four patients with diffuse infiltrating tumors. Neither modality allowed differentiation of benign from malignant disorders. When local tumor staging was analyzed in 11 patients, the accuracy of both modalities was disappointing (true-positive findings with MR imaging in seven patients and with US in five). At present, US remains the primary imaging modality for testicular disease. MR imaging should be employed when findings at physical examination and US are discrepant and considered when diffuse infiltrative disease is suspected.     

Hip arthropathy in a patient with primary hemochromatosis: MR imaging findings with pathologic correlation

Arthropathy is a major clinical manifestation in primary hemochromatosis, typically affecting the metacarpophalangeal joints. Hip arthropathy is not uncommon, with radiologic features resembling osteoarthritis or calcium pyrophosphate dihydrate (CPPD) crystal deposition disease. We describe the MR imaging findings of the hip in a patient with severe hip arthropathy and primary hemochromatosis and correlate them with the histopathologic findings. MR imaging showed severe degenerative changes, with large subchondral cysts and subchondral sclerosis in the femoral head and acetabulum. There was conspicuous correlation between MR imaging and pathologic findings of the resected femoral head. However, MR imaging failed to reveal intra-articular iron.     

Dural arteriovenous fistulas: evaluation with MR imaging

The preangiographic diagnosis of cerebral dural arteriovenous fistula (DAVF) can be difficult. The magnetic resonance (MR) images of 12 patients with angiographically proved DAVF were evaluated to characterize the appearance of these lesions and to identify those patients at increased risk for complications. Patients with DAVF demonstrating venous occlusive disease are at higher risk for complications from the arterialized collateral venous system. This venous occlusive disease is demonstrated best at arteriography. The MR imaging appearance of dilated cortical veins without a parenchymal nidus is suggestive of a DAVF with veno-occlusive disease. Eight of the 12 patients in our series demonstrated this finding at angiography. Complications, including infarction and hemorrhage, were identified at MR imaging in eight patients with MR imaging evidence of veno-occlusive disease. At angiography 42% of these complications were not apparent. In one patient with a DAVF draining into an unobstructed right sigmoid sinus, results of MR study were normal. Although patients with DAVF without veno-occlusive disease may have normal findings at MR imaging, DAVF associated with veno-occlusive disease and dilated pial venous drainage can be documented on MR images. This subset of DAVF patients, many of whom were identified only at MR imaging, is at higher risk for complications due to veno-occlusive disease. These patients are believed to require more urgent therapy. MR imaging is useful in the pretherapeutic planning for patients with DAVF.     

Takayasu's arteritis: assessment of disease activity with contrast-enhanced MR imaging

OBJECTIVE: The purpose of this study was to evaluate the role of contrast-enhanced MR imaging in the determination of disease activity in patients with Takayasu's arteritis. SUBJECTS AND METHODS: High-resolution contrast-enhanced T1-weighted spinecho MR imaging using small fields of view (14-20 cm) and thin slices (4-5 mm) was performed in 26 patients with Takayasu's arteritis and 16 healthy subjects. The degree of aortic mural enhancement was assessed by measuring signal intensity and by visually estimating it in comparison with that of the myocardium. RESULTS: Contrast-enhanced MR imaging showed more enhancement of thickened aortic wall compared with myocardium, thus suggesting active Takayasu's arteritis on MR imaging in 16 patients. Determination of disease activity using contrast-enhanced MR imaging was concordant with clinical findings in 23 patients (88.5%). Contrast-enhanced MR findings were concordant with laboratory findings in most patients (erythrocyte sedimentation rate in 92.3% [24/26] and C-reactive protein in 84.6% [22/26]). The measured signal intensity of the aortic wall relative to that of myocardium during the early phase of contrast-enhanced MR imaging correlated well with the erythrocyte sedimentation rate (r = 0.78, p < 0.005) and with the C-reactive protein level (r = 0.63, p < 0.005). CONCLUSION: Contrast-enhanced MR imaging provides information about disease activity of Takayasu's arteritis, which may be useful in the diagnosis and treatment of Takayasu's arteritis.     

Total-body echo-planar MR imaging in the staging of breast cancer: comparison with conventional methods--early experience

PURPOSE: To test breast cancer staging with total-body echo-planar magnetic resonance (MR) imaging. MATERIALS AND METHODS: Nineteen patients with newly diagnosed breast cancer were imaged by using a 1.5-T echo-planar MR system. By using a table sweep method, 180 contiguous axial images were obtained from the cranial vertex through the feet with T2-weighted spin-echo and inversion-recovery sequences. Results were compared with those of conventional imaging. Therapeutic decisions based on echo-planar MR imaging and conventional imaging results were compared. Diagnostic truth was determined by means of tissue diagnosis, further imaging findings, and follow-up findings (median, 18 months). RESULTS: Staging with total-body echo-planar MR imaging was correct in 18 patients (95%)--eight with metastases and 10 without--while staging with conventional imaging was correct in 15 patients (79%). In one patient, both echo-planar MR imaging and conventional imaging findings incorrectly indicated probable metastases. In one patient thought to have bone metastases at conventional imaging, echo-planar MR imaging findings were normal, which was correct. Two patients with stage IV disease were not suspected to have disease at conventional imaging: One had liver involvement and the other had skeletal metastases. The therapeutic decisions in these two patients were altered by the echo-planar MR imaging results. CONCLUSION: Total-body echo-planar MR imaging was at least as accurate as conventional imaging for staging newly diagnosed breast cancer and was faster, simpler, and completely noninvasive.     

平山病的MRI诊断

目的：探讨平山病（hirayama disease）的MR影像学表现,提高对该病的认识。方法通过查阅相关文献,回顾性分析2例临床已确诊的平山病MR自然位和过屈位影像表现,观察其低位颈髓的动态变化,并与健康自愿者的同条件扫描影像相比较,总结平山病的MR影像学表现。结果①自然位：曲线多有异常,下段颈髓萎缩,髓内可有异常信号,有失连接现象;②过屈位：所有患者均出现颈髓前移、变扁,硬脊膜后有月牙形、集簇状异常信号影;③2例患者强化检查示过屈位脊膜后异常信号影有强化;④志愿者自然位扫描显示颈椎曲度自然,颈髓粗细均匀,不存在失连接现象,过屈位脊膜后无异常信号影。结论MR颈椎检查特别是过屈位扫描能够显示出平山病的特征性影像学改变,对于平山病的早期诊断具有重大价值。     

Extrahepatic abdominal imaging in patients with malignancy: comparison of MR imaging and helical CT in 164 patients

The purpose of this study was to compare the performance of magnetic resonance (MR) imaging using currently available techniques with contrast-enhanced single-phase helical computed tomography (CT) in depicting extrahepatic disease in patients with malignancy. At two institutions, 164 patients with known or suspected malignancy underwent abdominal imaging with contrast-enhanced helical CT and MR imaging. The prospective interpretations of the CT scans and MR examinations were used to assess the sensitivity of each imaging test in detecting benign and malignant extrahepatic disease at 17 anatomic sites. Imaging findings were compared with results of surgery in 57 patients and with the combined results of image-guided biopsy, follow-up cross-sectional imaging studies, other concurrent imaging tests, and clinical follow-up. For the 164 patients, helical CT scans depicted 221 of 316 (70%) sites of proven extrahepatic tumor compared with 288 sites (91%) (P < 0.0001) for MR imaging. For the 57 patients who underwent exploratory laparotomy, helical CT scans depicted 101 of 154 (66%) findings of surgically confirmed extrahepatic tumor compared with MR imaging, which depicted 139 sites (90%) (P < 0.0001). Anatomic sites at which MR imaging showed a significantly greater detection of extrahepatic tumor included the peritoneum, bowel, and vascular and osseous structures. For depiction of benign extrahepatic disease, there was no significant difference between helical CT and MR imaging. MR imaging, using currently available T1-weighted, RARE T2-weighted, and gadolinium-enhanced imaging, is effective in depicting extrahepatic disease in patients with malignancy. Compared with single-phase helical CT scanning, MR imaging shows an advantage in depicting tumor involving the peritoneum, omentum, bowel, and osseous and vascular structures.     

MRI of Gorham's disease: findings in two cases

Gorham's disease is a rare condition characterized by non-malignant proliferation of vascular or lymphatic structures of bone resulting in progressive bony destruction and often extending into surrounding soft tissues. We present two cases of MR imaging findings of Gorham's disease involving the axial and appendicular skeleton with a 10-year follow-up in one patient. MR imaging findings in this entity are reviewed.     

Intracranial and spinal MR imaging findings associated with Krabbe's disease: case report.

Krabbe's disease is an autosomal recessive leukodystrophy with well-documented intracranial findings on both CT scans and MR images. We herein present what is thought to be the second case of Krabbe's disease with spinal involvement shown on MR images as abnormal contrast enhancement of the lumbosacral nerve roots. The typical intracranial findings of T2 hyperintensity without contrast enhancement were present within the periventricular white matter, but there was no area of abnormal signal intensity or enhancement within the substance of the spinal cord. We briefly review the pathophysiology, clinical presentation, and imaging findings of Krabbe's disease. Spinal abnormalities may precede the onset of brain abnormalities, and MR imaging may be a useful diagnostic tool in cases of Krabbe's disease and other leukodystrophies.     

Peyronie's disease: MR findings in 28 patients.

Induratio penis plastica (Peyronie's disease) is a chronic fibrotic process involving the penis. Proper treatment of the disease requires assessment of the degree of inflammation preceding or accompanying the fibrous Peyronie's plaques. Owing to its high tissue contrast and its multiplanar capability, MR imaging offers excellent visualization of penile anatomy. To determine the usefulness of MR imaging in the diagnosis and staging of Peyronie's disease, we used MR imaging with a surface coil to examine 28 consecutive patients with clinical evidence of the disease. Eighteen patients had contrast-enhanced MR imaging with gadopentetate dimeglumine. In seven patients who subsequently had surgery or biopsy, MR findings were correlated with histopathologic findings. On unenhanced images, fibrous plaques were shown in 20 patients. Enhanced MR images showed focal contrast enhancement around or within the plaques in seven patients. Images in three patients with plaques showed no enhancement. Images in five patients showed focal areas of contrast enhancement without evidence of plaques. Histologic studies demonstrated that the degree of contrast enhancement correlated with the extent of inflammatory cell infiltration. In two patients with unenhancing plaques on MR, histology confirmed the absence of inflammation. Our results suggest that MR imaging not only depicts the localization and extent of fibrous plaques in patients with Peyronie's disease but also reveals the presence of inflammation. This makes MR imaging the technique of choice for planning therapy and for evaluating the response to conservative treatment.