Dynamic MR in patients affected by neurogenical claudication: technique and results from a single-center experience.

INTRODUCTION: This study aimed to determine changes in size of lumbar spinal canal and related articular structures, during dynamic MR scans acquired in symptomatic patients standing upright using a new open MR system. METHODS: Forty patients (mean age 58.4 years) affected by lumbar back pain associated with claudication, referring symptoms since more than 6 months. No one underwent to previous spine surgery. MR scans were performed with a novel open 0.5-T scanner, patient supine and upright (90°). Lumbar lordotic angle, flavum ligament thickness, herniated discs, spinal canal area, spinal canal and dural sac antero-posterior diameters, and spinal alignment were measured and compared in both supine and upright positions. Mean scanning time was 43 min. RESULTS: All the considered parameters showed a statistically significant difference, except for lumbar lordotic angle. Mean percentage differences moving from supine to upright were +3.9 % for lumbar lordotic angle, +15 % for flavum ligament thickness, +16.2 % for sagittal disc bulge, -10.8 % for dural sac diameter, -13.1 % for spinal canal diameter, and -15.8 % for spinal canal area. In supine position, no patient presented with spondylolisthesis; moving to upright position, four patients showed spondylolisthesis (grade I). CONCLUSION: Dynamic MR is a valuable diagnostic exam to analyze the structures involved in lumbar back pain due to spinal canal stenosis and spondylolisthesis; in supine position, relevant factors can be underestimated or hidden, becoming appreciable only patient standing upright. In this series, flavum ligament thickening presented a role comparable to disc bulge for narrowing of lumbar spinal canal.

A useful relationship between the presence of extramedullary erythropoeisis and the level of the soluble form of the transferrin receptor in a large cohort of adult patients with thalassemia intermedia: a prospective study.

In thalassemia intermedia (TI), the increase in bone marrow hemopoietic activity frequently leads to extramedullary erythropoeisis (EMH), but its relationship with the soluble form of transferrin receptor (sTfR) which fully reflects the marrow erythropoietic activity, has not yet been explored. From January 2007 to December 2010, all TI patients attending at our center were prospectively enrolled to undergo sTfR assay and MRI or CT (if claustrophobic) scan evaluation for the presence of paraspinal EMH. A total of 59 patients with TI were studied; EMH involved 23 (39%) patients; overall, the concentration of sTfR varied from 2.6 to 20.6 (mean = 8.7) mg/L, but in splenectomized group and in unsplenectomized group, it varied from 4.2 to 17.8 (mean ± SD = 9.86 ± 3.33) mg/L and from 2.6 to 20.6 (mean ± SD = 7.25 ± 3.9) mg/L, respectively with a statistically significant intergroup difference (p < 0.01). The cutoff point at 8.6 mg/L using the ROC curve showed a sensitivity of 78.3% and a specificity of 72.2%, in predicting EMH but, in unsplenectomized subgroup, they raised to 100% and 90.9%, respectively. These data showed that in TI the level of sTfR could represent a predictive factor of EMH particularly in patients with spleen.

Intraorbital wooden foreign body detected by computed tomography and magnetic resonance imaging.

To identify and localize an intraorbital wooden foreign body is often a challenging radiological issue; delayed diagnosis can lead to serious adverse complications. Preliminary radiographic interpretations are often integrated with computed tomography and magnetic resonance, which play a crucial role in reaching the correct definitive diagnosis. We report on a 40 years old male complaining of pain in the right orbit referred to our hospital for evaluation of eyeball pain and double vision with an unclear clinical history. Computed tomography and magnetic resonance scans supposed the presence of an abscess caused by a foreign intraorbital body, confirmed by surgical findings.

Neuroimaging of Spinal Instability.

The human spine is a complex biomechanical system composed of multiple articular structures controlled by muscles. Spine diseases are frequently related to a loss of stability. Dedicated imaging protocols have been developed to evaluate spinal instability. Dynamic radiography with lumbar flexion-extension is used most often; however, in traumatic instability, computerized tomography provides better diagnostic accuracy for fracture detection. Novel technology improvements allow acquisition of dynamic MRI with axial load or upright standing techniques to simulate a more pathologic condition compared with conventional supine scans. This article reviews the basic concepts of spinal instability and describes the role of different imaging techniques in its assessment.

Partial cerebellar hypoplasia in a patient with Prader-Willi syndrome.

UNLABELLED: We report a 3-y-old male infant with Prader-Willi syndrome (PWS) caused by a de novo interstitial deletion of 15q11-q13. Additional features included a right cerebellar hemisphere hypoplasia. The extent of deletion was determined by FISH analysis using an SNRPN PW/AS probe that maps in the PWS/AS critical region (CR) and with specific 15q BACs. We unravelled an interstitial 15q11.2-q13.1 deletion spanning about 3 Mb. CONCLUSION: To date only a few other PWS patients--including autopsy cases--with CNS structural anomalies have been described. Our case report adds knowledge to the issue of brain involvement in Prader-Willi syndrome. Further MRI studies of PWS patients will be helpful to clarify a correlation between PWS and brain abnormalities.

Vertebroplasty in the treatment of back pain.

PURPOSE: The aim of this study is to show the utility of vertebroplasty in the treatment of some types of back pain. Vertebroplasty is a venous embolisation of the vertebral body performed under computed tomography (CT) or fluoroscopy guidance with transpedicular, anterolateral, intercostovertebral or posterolateral approach with acrylic cement. MATERIALS AND METHODS: We report our experience in 85 patients suffering from low back and thoracic pain and treated with percutaneous vertebroplasty owing to osteoporotic vertebral compression fractures, vertebral haemangiomas or secondary lytic lesions of the spine. Patient selection was performed on the basis of physical examination, magnetic resonance or less frequently, with bone scan. CT has a minor role in selected cases to evaluate the integrity of the posterior wall. We treated 55 patients affected by acute osteoporotic vertebral compression fracture, 10 patients with vertebral haemangioma and 20 patients with metastatic lesions. The patients were placed in the prone position and the procedure was performed under fluoroscopy guidance in 80 patients and under CT guidance in 5 patients affected by metastatic lesions. In no cases was phlebography performed before the treatment. The approach adopted was bilateral in 45 patients and unilateral in the remaining 30 cases. Injection with a low viscosity cement was performed under fluoroscopy guidance with extreme precision in all cases. The amount of cement injected ranged from 4 ml (thoracic level) up to 12 ml (lumbar level). RESULTS: The results were better for osteoporotic cases (95%) and patients with vertebral haemangioma (90%) than with metastatic lesions (77%), with improvement within 24-72 hours after the treatment. We noted asymptomatic cement leakage in 39 cases but only in 2 cases was there an acute radiculopathy due to epidural cement leakage, which was treated and resolved medically in 1 month. At follow-up no cases were noted of fractures of vertebral bodies adjacent to the treated vertebrae. DISCUSSION AND CONCLUSIONS: Since the first case of vertebroplasty was used in vertebral haemangioma, the possibility of using this technique in other pathological conditions such as metastatic lesions and osteoporotic compression fractures has been clear. MR has a key role in the selection of patients while bone scan and CT can be useful in selected cases. Absolute controindication is local or systemic infection while relative controindications are epidural extension of the neoplastic lesion, vertebra plana, clinical signs of myelopathy or radiculopathy and coagulation disorders. The results of our study were better in patients treated for osteoporosis or haemangioma than in cancer patients. We consider percutaneous vertebroplasty a valid technique for the treatment of the pain due to osteoporotic compression fractures, vertebral haemangiomas or metastatic lesions.

Cerebellar vermis aplasia: patient report and exclusion of the candidate genes EN2 and ZIC1.

Cerebellar vermis aplasia (ACV, OMIM 117360) is a rare malformation of the cerebellum, with only few familial patients reported so far. Main clinical features of this rare disorder include floppiness and delayed milestones in early infancy, preceding mild cerebellar ataxia, non-progressive clinical course, normal or slightly delayed intelligence, and occasional nystagmus. Neuroimaging reveals selective involvement of the cerebellum, which is prominent in the vermis. Because of the large preponderance of female patients, X-linked dominant transmission was suggested by [Fenichel and Phillips (1989); Arch Neurol 46:582-583], and subsequent reports only concern female patients. Only one family with male-to-male transmission presenting with a generalized atrophy of the cerebellum rather than a more localized vermis aplasia has been reported so far. We report on a family in which father and son are affected by a mild form of ACV, thus confirming an autosomal mode of inheritance of the disease. Our patients showed a progressive improvement of their motor abilities, neurological examination of the father being actually normal except for a mild mental retardation. We also evaluated the potential role of two candidate genes, EN2 and ZIC1, responsible for abnormal cerebellar development in murine knock-out models. However, molecular analysis failed to reveal any causative mutation in the coding sequence of the two genes in our patients. The understanding of the genetic basis of autosomal dominant ACV would allow a better classification of isolate cerebellar malformations and might permit to understand cell differentiation and migration in the developing central nervous system.