Proton magnetic resonance spectroscopy in the distinction of high-grade cerebral gliomas from single metastatic brain tumors.

BACKGROUND: Brain metastases and primary high-grade gliomas, including glioblastomas multiforme (GBM) and anaplastic astrocytomas (AA), may be indistinguishable by conventional magnetic resonance (MR) imaging. Identification of these tumors may have therapeutic consequences. PURPOSE: To assess the value of MR spectroscopy (MRS) using short and intermediate echo time (TE) in differentiating solitary brain metastases and high-grade gliomas on the basis of differences in metabolite ratios in the intratumoral and peritumoral region. MATERIAL AND METHODS: We performed MR imaging and MRS in 73 patients with histologically verified intraaxial brain tumors: 53 patients with high-grade gliomas (34 GBM and 19 AA) and 20 patients with metastatic brain tumors. The metabolite ratios of Cho/Cr, Cho/NAA, and NAA/Cr at intermediate TE and the presence of lipids at short TE were assessed from spectral maps in the tumoral core, peritumoral edema, and contralateral normal-appearing white matter. The differences in the metabolite ratios between high-grade gliomas/GBM/AA and metastases were analyzed statistically. Cutoff values of Cho/Cr, Cho/NAA, and NAA/Cr ratios in the peritumoral edema, as well as Cho/Cr and NAA/Cr ratios in the tumoral core for distinguishing high-grade gliomas/GBM/AA from metastases were determined by receiver operating characteristic (ROC) curve analysis. RESULTS: Significant differences were noted in the peritumoral Cho/Cr, Cho/NAA, and NAA/ Cr ratios between high-grade gliomas/GBM/AA and metastases. ROC analysis demonstrated a cutoff value of 1.24 for peritumoral Cho/Cr ratio to provide sensitivity, specificity, positive (PPV), and negative predictive values (NPV) of 100%, 88.9%, 80.0%, and 100%, respectively, for discrimination between high-grade gliomas and metastases. By using a cutoff value of 1.11 for peritumoral Cho/NAA ratio, the sensitivity was 100%, the specificity was 91.1%, the PPV was 83.3%, and the NPV was 100%. CONCLUSION: The results of this study demonstrate that MRS can differentiate high-grade gliomas from metastases, especially with peritumoral measurements, supporting the hypothesis that MRS can detect infiltration of tumor cells in the peritumoral edema.

Microphthalmia and brain atrophy: a novel neurodegenerative disease.

OBJECTIVE: To delineate the features of a novel neurodegenerative disease. METHODS: We report three children of three related families with congenital microphthalmia and blindness, and progressive spasticity, microcephaly, seizures, and profound mental retardation. RESULTS: A magnetic resonance imaging scan was normal at birth. However, follow-up studies showed progressive atrophy involving the cerebral white matter and cortex, cerebellum, brainstem, and corpus callosum. The white matter changes extended into the subcortical region leaving only small islands of remaining cortical tissue. Known metabolic conditions involving white matter degeneration were excluded. INTERPRETATION: We propose this to be a novel autosomal recessive neurodegenerative disorder to be coined MOBA (microphthalmia brain atrophy) disease.

Follow-up of a girl with cleft lip and palate and multiple malformations: trisomy 20 mosaicism.

We describe a 16(1/2) -year-old girl with multiple anomalies including cleft lip and palate and a normal karyotype in blood lymphocytes. Because of hyperpigmention along the lines of Blaschko, her karyotype in skin fibroblasts was examined, which showed mosaicism for trisomy 20. This is the first report to our knowledge of this karyotype where hyperpigmentation and facial clefting occurred together.

[Epilepsia partialis continua (Kojevnikov's syndrome)]. / Epilepsia partialis continua (Kojevnikovs syndrom).

BACKGROUND: Lesions close to the central sulcus may give rise to focal motor seizures of long duration. This condition is called epilepsia partialis continua (Kojevnikov's syndrome). MATERIAL AND METHODS: Over the last two years, the National Centre for Epilepsy in Norway has treated 12 patients with epilepsia partialis continua. We discuss the occurrence, etiologies, semiology, findings from supplementary investigations, and therapeutic options on the basis of relevant literature and our own experience with these patients. RESULTS AND INTERPRETATION: Morphological lesions were found in 10 out of these 12 patients; cortical dysplasia in 3 patients, brain tumour in 2 patients, cerebral infarction in 2 patients, Rasmussen syndrome in 2 patients, and cerebral haemorrhage from an arteriovenous malformation in 1 patient. 9 patients had intermittent periods of jerking lasting from some hours to several days; the remaining 3 had permanent jerks. One of them had had this condition for 44 years. In 11 patients the jerks were localised to the face and/or the hand. The effect of antiepileptic drugs was disappointing; none became seizure-free. Five patients had undergone surgery. Surgical lesionectomy in this brain area is associated with a high risk of damage to eloquent cortex, but multiple subpial transections may have a seizure-blocking effect. One patient with Rasmussen's syndrome became seizure-free after a functional hemispherotomy.

A patient with a 44-year history of epilepsia partialis continua caused by a perirolandic cortical dysplasia.

Epilepsia partialis continua (EPC), or Kojevnikov's syndrome, is a rare epileptic syndrome arising from a variety of lesions in the perirolandic area. We report herein a 46-year-old woman with drug-resistant EPC due to a cortical dysplasia in the left frontoparietal region. For 44 years she has suffered continuous right-sided jerks, particularly in the right arm and hand, with an average frequency of 10-20 jerks per minute. During EEG recordings her jerks were associated with spikes and sharp waves over the left frontocentroparietal region, sometimes also with bursts of high-voltage generalized spike-wave complexes with a maximum bicentrally, followed by an electrodecrement. Despite the continuous jerks she is independent in daily life activities, and she considers the jerks not severe enough to justify surgery, i.e., multiple subpial transections.

[Diagnostic imaging techniques in the investigation of dementia]. / Bildediagnostiske metoder ved demensutredning.

BACKGROUND: Neuroimaging can provide valuable information in the diagnostic work-up of patients presenting with suspected dementia. MATERIAL AND METHODS: Based on our experience from a memory clinic at Ullevål University Hospital in Oslo, Norway and on relevant literature identified on Medline, we give an overview of the use of neuroimaging methods in patients with suspected dementia. RESULTS AND INTERPRETATION: CT of the brain should be offered to all patients with suspected dementia as CT can provide essential diagnostic information regarding focal cerebral pathology (tumour, haemorrhage, normal pressure hydrocephalus). A CT scan is of no value in the diagnostic evaluation of patients with mild to moderate Alzheimer's disease as age-related atrophy may be a confounding factor. CT is necessary to reveal infarcts when vascular dementia is suspected, but lacks sensitivity in the detection of diffuse cerebrovascular disease. MRI is recommended in younger patients and may be used to diagnose subcortical lesions, e.g. leukoariosis. The accuracy of SPECT in the assessment of patients with cognitive impairment is not yet established though it seems to be a promising method for the detection of frontotemporal dementia. Functional MR may play a role in the work-up of dementia in the future.