Characterization of genetically defined types of Charcot-Marie-Tooth neuropathies by using magnetic resonance neurography

2005 ◽  
Vol 102 (2) ◽  
pp. 242-245 ◽  
Author(s):  
Dilantha B. Ellegala ◽  
Stephen J. Monteith ◽  
David Haynor ◽  
Thomas D. Bird ◽  
Robert Goodkin ◽  
...  

Object. Charcot-Marie-Tooth (CMT) disease is a collection of related genetic disorders affecting peripheral nerves with an incidence of one in every 2500 individuals. A diagnosis of CMT disease has classically relied on a medical history, examination, and measurement of nerve conduction velocities. Advancements in genetic testing and magnetic resonance (MR) imaging techniques may provide clinicians with a more precise diagnostic armamentarium. The authors investigated MR neurography as a possible method to characterize CMT subtypes. Methods. The authors performed MR neurography to evaluate sciatic nerves in the mid-thigh area of seven patients with genetically defined subtypes of CMT, one patient with chronic inflammatory demylinating polyneuropathy, and one patient without neuropathy. The authors correlate their findings with normal nerve conduction velocities (NCVs) and present their results as a descriptive case series. Although MR neurography could not be used to distinguish subtypes of CMT disease on nerve area or fascicle number, it appears to characterize phenotypic features and disease progression noninvasively in patients with some subtypes. Conclusions. In conjunction with NCV measurements, MR neurography may be useful in the diagnosis of CMT neuropathies and in monitoring disease progression.

1996 ◽  
Vol 85 (2) ◽  
pp. 299-309 ◽  
Author(s):  
Aaron G. Filler ◽  
Michel Kliot ◽  
Franklyn A. Howe ◽  
Cecil E. Hayes ◽  
Dawn E. Saunders ◽  
...  

✓ Currently, diagnosis and management of disorders involving nerves are generally undertaken without images of the nerves themselves. The authors evaluated whether direct nerve images obtained using the new technique of magnetic resonance (MR) neurography could be used to make clinically important diagnostic distinctions that cannot be readily accomplished using existing methods. The authors obtained T2-weighted fast spin—echo fat-suppressed (chemical shift selection or inversion recovery) and T1-weighted images with planes parallel or transverse to the long axis of nerves using standard or phased-array coils in healthy volunteers and referred patients in 242 sessions. Longitudinal and cross-sectional fascicular images readily distinguished perineural from intraneural masses, thus predicting both resectability and requirement for intraoperative electrophysiological monitoring. Fascicle pattern and longitudinal anatomy firmly identified nerves and thus improved the safety of image-guided procedures. In severe trauma, MR neurography identified nerve discontinuity at the fascicular level preoperatively, thus verifying the need for surgical repair. Direct images readily demonstrated increased diameter in injured nerves and showed the linear extent and time course of image hyperintensity associated with nerve injury. These findings confirm and precisely localize focal nerve compressions, thus avoiding some exploratory surgery and allowing for smaller targeted exposures when surgery is indicated. Direct nerve imaging can demonstrate nerve continuity, distinguish intraneural from perineural masses, and localize nerve compressions prior to surgical exploration. Magnetic resonance neurography can add clinically useful diagnostic information in many situations in which physical examinations, electrodiagnostic tests, and existing image techniques are inconclusive.


1998 ◽  
Vol 89 (5) ◽  
pp. 769-779 ◽  
Author(s):  
Charles J. Hodge ◽  
Sean C. Huckins ◽  
Nikolaus M. Szeverenyi ◽  
Michael M. Fonte ◽  
Jacob G. Dubroff ◽  
...  

Object. Functional magnetic resonance (fMR) imaging was performed in human volunteers to determine the lateral perisylvian cortical areas activated by innocuous cutaneous stimulation. Methods. Eight volunteers who underwent 53 separate experiments form the basis of this report. Eight contiguous coronal slices were obtained using echoplanar fMR imaging techniques while participants were at rest and while somatosensory activation stimuli consisting of vibration or air puffs were delivered to various body areas. The data were analyzed using Student's t-test and cluster analysis to determine significant differences between the resting and activated states. The findings were as follows: the areas in the lateral cortex activated by the sitmuli were the primary sensory cortex (SI), the second somatosensory area (SII), the insula, the superior parietal lobule, and the retroinsular parietal operculum (RIPO). Somatotopy was demonstrable in SI but not in the other areas identified. There was a surprisingly low correlation between the amount of cortex activated in the various areas, which could mean separate inputs and functions for the areas identified. The highest correlation was found between activity in SII and RIPO (0.69). Conclusions. The authors maintain that fMR imaging can be used to identify multiple lateral somatosensory areas in humans. Somatotopy is demonstrated in SI but not in the other lateral cortical sensory areas. The correlations between the amounts of cortex activated in the different lateral sensory areas are low. Recognition of the multiple lateral sensory areas is important both for understanding sensory cortical function and for safe interpretation of studies designed to identify the central sulcus by activating SI.


2005 ◽  
Vol 2 (2) ◽  
pp. 99-115 ◽  
Author(s):  
Aaron G. Filler ◽  
Jodean Haynes ◽  
Sheldon E. Jordan ◽  
Joshua Prager ◽  
J. Pablo Villablanca ◽  
...  

Object. Because lumbar magnetic resonance (MR) imaging fails to identify a treatable cause of chronic sciatica in nearly 1 million patients annually, the authors conducted MR neurography and interventional MR imaging in 239 consecutive patients with sciatica in whom standard diagnosis and treatment failed to effect improvement. Methods. After performing MR neurography and interventional MR imaging, the final rediagnoses included the following: piriformis syndrome (67.8%), distal foraminal nerve root entrapment (6%), ischial tunnel syndrome (4.7%), discogenic pain with referred leg pain (3.4%), pudendal nerve entrapment with referred pain (3%), distal sciatic entrapment (2.1%), sciatic tumor (1.7%), lumbosacral plexus entrapment (1.3%), unappreciated lateral disc herniation (1.3%), nerve root injury due to spinal surgery (1.3%), inadequate spinal nerve root decompression (0.8%), lumbar stenosis (0.8%), sacroiliac joint inflammation (0.8%), lumbosacral plexus tumor (0.4%), sacral fracture (0.4%), and no diagnosis (4.2%). Open MR—guided Marcaine injection into the piriformis muscle produced the following results: no response (15.7%), relief of greater than 8 months (14.9%), relief lasting 2 to 4 months with continuing relief after second injection (7.5%), relief for 2 to 4 months with subsequent recurrence (36.6%), and relief for 1 to 14 days with full recurrence (25.4%). Piriformis surgery (62 operations; 3-cm incision, transgluteal approach, 55% outpatient; 40% with local or epidural anesthesia) resulted in excellent outcome in 58.5%, good outcome in 22.6%, limited benefit in 13.2%, no benefit in 3.8%, and worsened symptoms in 1.9%. Conclusions. This Class A quality evaluation of MR neurography's diagnostic efficacy revealed that piriformis muscle asymmetry and sciatic nerve hyperintensity at the sciatic notch exhibited a 93% specificity and 64% sensitivity in distinguishing patients with piriformis syndrome from those without who had similar symptoms (p < 0.01). Evaluation of the nerve beyond the proximal foramen provided eight additional diagnostic categories affecting 96% of these patients. More than 80% of the population good or excellent functional outcome was achieved.


2002 ◽  
Vol 96 (4) ◽  
pp. 755-759 ◽  
Author(s):  
Simon A. Cudlip ◽  
Franklyn A. Howe ◽  
John R. Griffiths ◽  
B. Anthony Bell

Object. In a number of clinical studies magnetic resonance (MR) neurography has been used to examine patients with peripheral nerve damage, but little is understood about the sequence of imaging changes following nerve injuries, and how they correlate with functional deficit. The goal of this study was to further understanding of these changes and their implications. Methods. Using the rat sciatic nerve crush model, the sciatic nerve was imaged at intervals over 70 days in 12 rats. Sham-operated contralateral nerves served as controls. A 4.7-tesla MR imager with a custom-made surface coil was used. The T2 maps were calculated from images obtained at four echo times and from regions of interest designated on the nerve at three sites. Walking-track analysis was performed at the same intervals as imaging. Magnetic resonance neurography revealed a mean T2 of normal sciatic nerve of 36 msec (standard deviation [SD] 1.2 msec). Crushed nerves demonstrated a sequence of changes in signal intensity that were maximal at 14 days, with a mean T2 of 64 msec (SD 5.2 msec), then falling to a T2 of 53 msec (SD 3.7 msec). Sham-operated nerves had a short and nonsustained rise in signal at 7 days. Walking-track analysis revealed maximum deficit immediately postinjury, with an improvement in function approaching that of control nerves at 30 days. Conclusions. In this study the authors demonstrate that quantitative assessment of nerve signals with MR neurography allows the sequence of events following nerve crush injury to be followed in vivo, and that a return toward a normal signal correlates with functional improvement. Assessment of peripheral nerve injury in patients by using MR neurography has the potential to confirm acute nerve injury as well as to monitor the recovery process.


2001 ◽  
Vol 94 (5) ◽  
pp. 811-815 ◽  
Author(s):  
Marta E. Heilbrun ◽  
Jay S. Tsuruda ◽  
Jeannette J. Townsend ◽  
M. Peter Heilbrun

✓ Intraneural perineurioma, or localized hypertrophic mononeuropathy (LHM), is a focal lesion that produces a slowly progressive mononeuropathy in a peripheral nerve. The authors describe the clinical presentation, magnetic resonance (MR) neurography characteristics, and pathological characteristics of a perineurioma involving the peroneal nerve. Although there has been much debate surrounding the cause of this lesion, a literature review supports the argument that this is a neoplastic lesion, best referred to as intraneural perineurioma. Surgical management includes excision to prevent progression of palsy and placement of a nerve graft if clinically indicated. A 28-year-old woman presented with a 2-year history of progressive painless right peroneal nerve palsy. Magnetic resonance neurography revealed a right common peroneal nerve mass. At surgery, the mass was easily excised, leaving significant nerve fascicles intact. Intraoperative biopsy was not performed nor was a nerve graft placed. Pathological investigation demonstrated onion bulb—shaped whorls consistent with the appearance of intraneural perineurioma; immunochemical analysis confirmed the diagnosis. A review of the literature supports the argument that perineurioma, or LHM, is a neoplastic process, making “intraneural perineurioma” the most appropriate name. The authors also demonstrate the utility of MR neurography in the identification isolated nerve tumors and review the surgical management of this lesion.


2000 ◽  
Vol 93 (supplement_3) ◽  
pp. 37-41 ◽  
Author(s):  
William F. Regine ◽  
Roy A. Patchell ◽  
James M. Strottmann ◽  
Ali Meigooni ◽  
Michael Sanders ◽  
...  

Object. This investigation was performed to determine the tolerance and toxicities of split-course fractionated gamma knife radiosurgery (FSRS) given in combination with conventional external-beam radiation therapy (CEBRT). Methods. Eighteen patients with previously unirradiated, gliomas treated between March 1995 and January 2000 form the substrate of this report. These included 11 patients with malignant gliomas, six with low-grade gliomas, and one with a recurrent glioma. They were stratified into three groups according to tumor volume (TV). Fifteen were treated using the initial FSRS dose schedule and form the subject of this report. Group A (four patients), had TV of 5 cm3 or less (7 Gy twice pre- and twice post-CEBRT); Group B (six patients), TV greater than 5 cm3 but less than or equal to 15 cm3 (7 Gy twice pre-CEBRT and once post-CEBRT); and Group C (five patients), TV greater than 15 cm3 but less than or equal to 30 cm3 (7 Gy once pre- and once post-CEBRT). All patients received CEBRT to 59.4 Gy in 1.8-Gy fractions. Dose escalation was planned, provided the level of toxicity was acceptable. All patients were able to complete CEBRT without interruption or experiencing disease progression. Unacceptable toxicity was observed in two Grade 4/Group B patients and two Grade 4/Group C patients. Eight patients required reoperation. In three (38%) there was necrosis without evidence of tumor. Neuroimaging studies were available for evaluation in 14 patients. Two had a partial (≥ 50%) reduction in volume and nine had a minor (> 20%) reduction in size. The median follow-up period was 15 months (range 9–60 months). Six patients remained alive for 3 to 60 months. Conclusions. The imaging responses and the ability of these patients with intracranial gliomas to complete therapy without interruption or experiencing disease progression is encouraging. Excessive toxicity derived from combined FSRS and CEBRT treatment, as evaluated thus far in this study, was seen in patients with Group B and C lesions at the 7-Gy dose level. Evaluation of this novel treatment strategy with dose modification is ongoing.


2002 ◽  
Vol 97 ◽  
pp. 563-568 ◽  
Author(s):  
Paul Jursinic ◽  
Robert Prost ◽  
Christopher Schultz

Object. The authors report on a new head coil into which the Leksell aluminum localization frame can be easily and securely mounted. Mechanically, the head coil interferes little with the patient. Methods. The head coil, which is for magnetic resonance (MR) imaging, is a 12-element quadrature transmitand-receive high-pass birdcage coil with a nominal operation frequency (63.86 MHz). The coil was built into a plastic housing. This new head coil minimizes patient motion and provides a 20% increase in signal/noise ratios compared with standard head coils. An MR image test phantom was mounted in the coil and this allowed quantification of image distortion due to inhomogeneities in the main magnetic field, nonlinearity in the gradient field, and paramagnetism of the aluminum headframe. There were no significant differences in geometric distortion between the new head coil and the standard coil. Conclusions. The new head coil has advantages for reducing patient movement artifacts and has a better signal/noise ratio with no reduction in geometric accuracy.


1994 ◽  
Vol 81 (4) ◽  
pp. 595-600 ◽  
Author(s):  
Thomas J. Manski ◽  
Charles S. Ha worth ◽  
Bertrand J. Duval-Arnould ◽  
Elisabeth J. Rushing

✓ The authors report gigantism in a 16-month-old boy with an extensive optic pathway glioma infiltrating into somatostatinergic pathways, as revealed by magnetic resonance imaging and immunocytochemical studies. Stereotactic biopsies of areas showing hyperintense signal abnormalities on T2-weighted images in and adjacent to the involved visual pathways provided rarely obtained histological correlation of such areas. The patient received chemotherapy, which resulted in reduction of size and signal intensity of the tumor and stabilization of vision and growth velocity.


1999 ◽  
Vol 90 (2) ◽  
pp. 300-305 ◽  
Author(s):  
Leif Østergaard ◽  
Fred H. Hochberg ◽  
James D. Rabinov ◽  
A. Gregory Sorensen ◽  
Michael Lev ◽  
...  

Object. In this study the authors assessed the early changes in brain tumor physiology associated with glucocorticoid administration. Glucocorticoids have a dramatic effect on symptoms in patients with brain tumors over a time scale ranging from minutes to a few hours. Previous studies have indicated that glucocorticoids may act either by decreasing cerebral blood volume (CBV) or blood-tumor barrier (BTB) permeability and thereby the degree of vasogenic edema.Methods. Using magnetic resonance (MR) imaging, the authors examined the acute changes in CBV, cerebral blood flow (CBF), and BTB permeability to gadolinium-diethylenetriamine pentaacetic acid after administration of dexamethasone in six patients with brain tumors. In patients with acute decreases in BTB permeability after dexamethasone administration, changes in the degree of edema were assessed using the apparent diffusion coefficient of water.Conclusions. Dexamethasone was found to cause a dramatic decrease in BTB permeability and regional CBV but no significant changes in CBF or the degree of edema. The authors found that MR imaging provides a powerful tool for investigating the pathophysiological changes associated with the clinical effects of glucocorticoids.


1987 ◽  
Vol 66 (6) ◽  
pp. 830-834 ◽  
Author(s):  
John L. Doppman ◽  
Giovanni Di Chiro ◽  
Andrew J. Dwyer ◽  
Joseph L. Frank ◽  
Edward H. Oldfield

✓ Magnetic resonance imaging (MRI) was performed on 12 patients with spinal arteriovenous malformations (AVM's). Six lesions were intramedullary, five were dural, and one was in a posterior extramedullary location. Serpentine filling defects similar to the classic myelographic findings were demonstrated within the high-signal cerebrospinal fluid on T2-weighted coronal scans. The intramedullary nidus was identified by MRI as an area of low-signal intensity within the cord in all six intramedullary AVM's. Neither the dural nor the posterior extramedullary lesions showed intramedullary components. It is concluded that MRI may noninvasively provide the initial diagnosis of a spinal AVM and distinguish intramedullary from dural and extramedullary lesions.


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