MR imaging and proton spectroscopy of neuronal injury in late-onset GM2 gangliosidosis.

BACKGROUND AND PURPOSE: Despite the ubiquity of G(M2) gangliosides accumulation in patients with late-onset G(M2) gangliosidosis (G(M2)G), the only clinical MR imaging-apparent brain abnormality is profound cerebellar atrophy. The goal of this study was to detect the presence and assess the extent of neuroaxonal injury in the normal-appearing gray and white matter (NAGM and NAWM) of these patients. METHODS: During a single imaging session, 9 patients with late-onset G(M2)G and 8 age-matched normal volunteers underwent the following protocol: (1) T1- and T2-weighted and fluid-attenuated inversion recovery MR images, as well as (2) multivoxel proton MR spectroscopy (1H-MR spectroscopy) to quantify the distribution of the n-acetylaspartate (NAA), creatine (Cr), and choline (Cho), were obtained. RESULTS: The patients' NAA levels in the thalamus (6.5 +/- 1.9 mmol/L) and NAWM (5.8 +/- 2.1 mmol/L) were approximately 40% lower than the controls' (P = .003 and P = .005), whereas the Cr and Cho reductions ( approximately 30% and approximately 26%) did not reach significance (P values of .06-.1). All cerebellar metabolites, especially NAA and Cr, were much (30%-90%) lower in the patients, which reflects the atrophy. CONCLUSION: In late-onset G(M2)G, NAA decreases are detectable in NAGM and NAWM even absent morphologic (MR imaging) abnormalities. Because the accumulation of G(M2) gangliosides can be reduced pharmacologically, 1H-MR spectroscopy might be a sensitive and specific for detecting and quantifying neuroaxonal injury and monitoring response to emerging treatments.

Correlation of apparent diffusion coefficient with neuropsychological testing in temporal lobe epilepsy.

BACKGROUND AND PURPOSE: Patients with nonlesional temporal lobe epilepsy have long been known to have abnormalities of memory. Recently, these patients have been shown to have increased diffusivity in the hippocampus. We hypothesized that in these patients, a negative correlation would exist between diffusivity measures of the mesial temporal lobe and performance on neuropsychological tests. METHODS: Twenty presurgical patients with temporal lobe epilepsy and 20 age- and sex-matched healthy controls underwent MR imaging of the brain. Apparent diffusion coefficient region of interest measures were taken in both hippocampi and parahippocampal gyri by 2 independent observers. Mean whole brain diffusivity was calculated. All patients completed neuropsychological testing. Electroencephalogram and pathology results were collected. Patients and controls were compared with respect to each apparent diffusion coefficient measure. In patients, apparent diffusion coefficients ipsilateral and contralateral to the seizure focus were compared. Associations were assessed between diffusivity measures and neuropsychological scores. RESULTS: Eleven patients had right-sided seizure foci and 9 had left-sided seizure foci. Patients demonstrated higher apparent diffusion coefficient values than controls over the whole brain, in the hippocampi, and in the parahippocampal gyri (P < .05). Patients demonstrated higher apparent diffusion coefficient within the ipsilateral hippocampus (1.19 +/- 0.22 x 10(-3) s/mm2) and parahippocampal gyrus (1.02 +/- 0.12 x 10(-3) s/mm2) compared with the contralateral side (1.02 +/- 0.16 x 10(-3) s/mm2 and 0.96 +/- 0.09 x 10(-3) s/mm2, respectively) (P < .05). Negative correlations were seen between hippocampal apparent diffusion coefficients and multiple memory tests (P < .05). CONCLUSION: Quantitative diffusion measurements in the hippocampus correlate with memory dysfunction in patients with temporal lobe epilepsy.

Identification of endolymphatic hydrops in Ménière's disease utilizing delayed postcontrast 3D FLAIR and fused 3D FLAIR and CISS color maps.

OBJECTIVE: The preferential delayed enhancement of the perilymphatic space enables detection of the non-enhancing endolymphatic hydrops present in patients with Ménière's disease. The aim of this study was to evaluate the diagnostic utility of delayed postcontrast 3D FLAIR images and a color map of fused postcontrast FLAIR and constructive interference steady state (CISS) images in the identification of endolymphatic hydrops in patients with clinically diagnosed Ménière's disease. STUDY DESIGN: Case control, blinded study. SETTING: Tertiary referral center. PATIENTS: Ten patients with Ménière's disease and five volunteer controls. INTERVENTION: Diagnostic. MAIN OUTCOME MEASURE: Two neuroradiologists blinded to the clinical history independently evaluated for the presence of endolymphatic hydrops on the images of both inner ears for test and control subjects. Both the standard gray-scale FLAIR images and the fused color map images were independently reviewed. RESULTS: The gray-scale 3D FLAIR images demonstrated 68.2% sensitivity and 97.4% specificity, and the fused color map images demonstrated 85.0% sensitivity and 88.9% specificity in the identification of endolymphatic hydrops in Ménière's disease. There was significant correlation between the gray-scale 3D FLAIR images and fused color map images with the categorization of involvement (p = 0.002). Inter-evaluator reliability was excellent (kappa = 0.83 for gray-scale images, kappa = 0.81 for fused color map). CONCLUSION: Delayed 3D FLAIR and fused 3D FLAIR-CISS color map images of the inner ears after intravenous contrast administration are potentially useful diagnostic tools in the evaluation of patients with suspected Ménière's disease.

MR assessment of oral cavity carcinomas.

Approximately half of head and neck carcinomas arise from the oral cavity. Imaging plays an essential role in the preoperative evaluation of oral cavity carcinomas. MR imaging is particularly advantageous in the evaluation of the oral cavity, with better depiction of the anatomy in this region and reduction of dental artifacts compared with CT. MR is also the preferred imaging modality for the evaluation of bone marrow invasion and perineural tumor spread, which are findings critical for treatment planning. Advanced MR imaging techniques may potentially better delineate true tumor extent, determine lymph node metastases, and predict treatment response.

Phase II trial of lapatinib in adult and pediatric patients with neurofibromatosis type 2 and progressive vestibular schwannomas.

This single-institution phase II study was performed to estimate the response rate to lapatinib in neurofibromatosis type 2 (NF2) patients with progressive vestibular schwannoma (VS). Twenty-one eligible patients were enrolled. Brain and spine MRIs, including 3-dimensional volumetric tumor analysis, and audiograms were performed once at baseline and again every 12 weeks. The primary response end point was evaluable in 17 patients and defined as ≥15% decrease in VS volume. Hearing was evaluable as a secondary end point in 13 patients, with responses defined as an improvement in the pure tone average of at least 10 dB  or a statistically significant increase in word recognition scores. Four of 17 evaluable patients experienced an objective volumetric response (23.5%; 95% confidence interval [CI], 10%-47%), with median time to response of 4.5 months (range, 3-12). In responders, reduction in VS volumes ranged from -15.7% to -23.9%. Four of 13 patients evaluable for hearing met hearing criteria for response (30.8%; 95% CI, 13%-58%). One sustained response exceeded 9 months in duration. Median time to overall progression (ie, volumetric progression or hearing loss) was 14 months. The estimated overall progression-free survival and volumetric progression-free survival at 12 months were 64.2% (95% CI, 36.9%-82.1%) and 70.6% (95% CI, 43.1%-86.6%), respectively. Toxicity was generally minor, and no permanent dose modifications were required. Lapatinib carries minor toxicity and has objective activity in NF2 patients with progressive VS, including volumetric and hearing responses. Future studies could explore combination therapy with other molecular targeted agents such as bevacizumab.

Superior turbinate pneumatization in patients with chronic rhinosinusitis: prevalence on paranasal sinus CT.

With the availability of high-resolution computed tomography (CT), a great deal of attention has been paid to the anatomy of the paranasal sinuses. But while investigators have focused on the osteomeatal complex and its relation to chronic rhinosinusitis, there has been little discussion of the superior turbinate. Although a few anatomic studies have tried to quantify pneumatization of the superior turbinate, the prevalence of this finding on radiography is not well addressed in the literature. We prospectively studied 100 consecutively presenting patients who underwent coronal CT of the paranasal sinuses (200 sides) for the evaluation of symptoms of chronic rhinosinusitis at an academic tertiary referral center to determine the prevalence of pneumatization of the superior turbinate. We found evidence of pneumatization in 44 of the 200 sides, for a prevalence of 22%. In all, pneumatized superior turbinates were found in 27 patients (27%)-bilaterally in 17 (17%) and unilaterally in 10 (10%).

Bone deposition/generation with LeFort III (midface) distraction.

BACKGROUND: It is essential to critically assess bone deposition in midface distraction. The aim of this study was to characterize the quality and volume of bone deposition at specific osteotomy sites following midface distraction. METHODS: At approximately 6 months after distraction, computed tomographic scans with three-dimensional reconstruction were obtained on 10 craniosynostosis syndromal patients who had undergone LeFort III osteotomy and midface distraction. Patient age ranged from 37 to 109 months (mean, 63.7 months) and the distractions ranged from 7 to 15 mm. Both the reconstructed scans and axial cuts were independently evaluated by four blinded observers (two plastic surgeons, an orthodontist, and a radiologist) and graded for bone deposition in predetermined anatomical sites correlated to the osteotomy. RESULTS: The authors found that variable bony bridging occurred at all sites along the osteotomy, but bone deposition was most reliably seen at the pterygomaxillary buttress and nasofrontal junction. In addition, the medial orbital walls tended to show greater consistency in bone deposition than the lateral orbital walls, and deposition at the zygomatic arches was shown to be least likely to occur. The technique of evaluation and the clinically significant findings are discussed. CONCLUSIONS: Bony deposition occurs more reliably in the medial facial skeleton following LeFort III osteotomy, and osteotomy through the zygomatic body was more likely to result in deposition than one through the arch.