Nonspecific White Matter Lesions Research Articles

Magnetic resonance imaging changes in Fabry disease

Recognized magnetic resonance imaging (MRI) abnormalities in the brains of patients with Fabry disease include the consequences of infarction and haemorrhage, non-specific white and grey matter lesions, vascular anomalies, in particular dolicho-ectasia, and a characteristic appearance of the posterior thalamus. A preliminary analysis of MRI findings in patients registered in FOS, the Fabry Outcome Survey, indicates that most patients had abnormal scans (25/47). The commonest abnormality, in males and females, was the presence of cerebral white matter lesions, the number of which increased with patient age. MRI is a valuable resource for assessing the CNS complications of Fabry disease, and their response to time and treatment.

Diffusion‐Weighted Imaging of Cerebral Malaria

ABSTRACTCerebral malaria occurs in 2% of patients infected by Plasmodium falciparum. Magnetic resonance imaging findings of small white matter infarcts due to cerebral malaria have been previously reported, however nonspecific. Since diffusion‐weighted imaging can differentiate acute embolic infarcts from other chronic or nonspecific white matter lesions, it may aid diagnosis of this illness in patients who travel to endemic areas.

Diffusion-Weighted Imaging of Cerebral Malaria

Cerebral malaria occurs in 2% of patients infected by Plasmodium falciparum. Magnetic resonance imaging findings of small white matter infarcts due to cerebral malaria have been previously reported, however nonspecific. Since diffusion-weighted imaging can differentiate acute embolic infarcts from other chronic or nonspecific white matter lesions, it may aid diagnosis of this illness in patients who travel to endemic areas.

Migraine and Cerebral White Matter Lesions

Patients with migraine are at an increased risk for white matter lesions, typically multiple, small, punctate hyperintensities in the deep or periventricular white matter, best observed on magnetic resonance imaging utilizing T2-weighted or FLAIR sequences. The underlying pathogenesis of white matter lesions in migraineurs is unknown, and the lesions are usually nonspecific and of unclear clinical significance. Often the presence of white matter lesions causes uncertainty for physicians and anxiety for patients and may lead to a variety of diagnostic tests and treatments. Occasionally, white matter lesions may represent a secondary cause for headaches such as CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy). CADASIL is underrecognized and underdiagnosed; it should be suggested by (i) 1 or more of recurrent subcortical ischemic strokes (especially before age 60 and in the absence of vascular risk factors), migraine (especially with aura, including atypical or prolonged auras) and/or early cognitive decline or subcortical dementia; (ii) bilateral, multifocal, T2/FLAIR hyperintensities in the deep white matter and periventricular white matter with lesions involving the anterior temporal pole, external capsule, basal ganglia, and/or pons; and (iii) an autosomal-dominant family history of migraine, early-onset stroke, or dementia. The clinical spectrum of CADASIL is broad, and there is a poor genotype-phenotype correlation. In certain individuals or families, migraine may be the only clinical manifestation. While the prevalence of nonspecific white matter lesions in migraineurs is increased, the white matter lesions may occasionally represent a secondary cause for headache such as CADASIL. Greater awareness of the unique clinical, neuroimaging, and pathologic features, as well as the availability of diagnostic genetic testing, should enhance the recognition and diagnosis of this fascinating condition.

Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X‐linked mental retardation in two unrelated Dutch families

Four Dutch male patients, two brothers from unrelated families were referred for investigation of psychomotor and severe language/speech delay. All four patients showed growth deficiency over the years. Facial features and poor body habitus were quite similar in the patients and in their mothers. Brain MRI showed nonspecific periventricular white matter lesions. In all the patients neuropsychological tests revealed moderate mental retardation, attention deficit and hyperactivity with impulsivity, a semantic-pragmatic language disorder, and oral dyspraxia. This specific cognitive profile is different from other children with mental retardation syndromes and seems to be unique. Excretion of creatine to creatinine ratio in urine of the four boys was increased compared to controls and their creatine uptake in fibroblasts was deficient. In the two brothers from the first pedigree, DNA sequence analysis revealed a novel mutation in the splice donor site in intron 10 (IVS10 + 5G>C, c.1495 + 5G>C) of the SLC6A8 gene leading to skipping of exon 10. In the other sib pair a novel missense mutation (c. 1361C>T; p.Pro544Leu) was found. These are the first families reported, in which the clinical suspicion of a creatine transporter disorder was raised on clinical grounds, before a brain 1H-MRS suggested the diagnosis. Screening of apparently X-linked mental retarded patients with this somatic and behavioral phenotype by the biochemical assay of creatine to creatinine ratio in the urine or DNA sequence analysis of SLC6A8 is worthwhile even when 1H-MRS is not available.

Clinical application of neuroimaging in epilepsy

Objective: To evaluate the use of neuroimaging in clinical practice and to assess the prevalence of detected structural abnormalities in epilepsy patients in a clinical set up. Methods: 919 outpatients...

Efficacy of gadolinium administration in magnetic resonance imaging screening of patients with complex partial seizures and results of a normal neurologic examination.

Magnetic resonance imaging has become a standard screening tool in the evaluation of patients with complex partial seizures. This study prospectively addresses the efficacy, if any, of routinely adding gadolinium-enhanced images to routine T2-weighted images in patients with a normal neurologic examination. One hundred consecutive patients with electroencephalogram and clinical evidence of complex partial seizures and no other neurologic abnormalities were examined prospectively with axial and coronal T2-weighted spin-echo images, followed by axial and coronal gadolinium-enhanced T1-weighted scans. The scans in 73 patients were interpreted as normal, 14 had nonspecific white matter lesions, 5 had asymmetry of the temporal horns, and 2 had asymmetric signal intensity in the temporal lobes, and the scans in 6 showed abnormal gadolinium enhancement. Of the lesions in the six patients whose scans showed abnormal enhancement, four were seen well on the T2-weighted images. Of the remaining two, one was a small cerebellar venous angioma, and the other, a probable tiny convexity meningioma. One temporal lobe glioma seen on the T2 scans did not enhance with gadolinium. Routine administration of gadolinium does not appear to be of benefit in imaging patients with complex partial seizures who are otherwise neurologically normal.

The Relationship of SPECT Scans to Behavioral Dysfunction in Neuropsychiatric Patients

The authors describe 20 neuropsychiatric inpatients consecutively evaluated in the context of routine clinical care. Patients had both a neurological and psychiatric disorder. Each was clinically evaluated as part of a psychiatric hospitalization. DSM-III-R diagnoses, electroencephalograms, magnetic resonance imaging (MRI) or computed tomography (CT) scans of the brain, single photon emission computed tomography (SPECT) scans of the brain, and cognitive testing are reported. In only three cases were SPECT, MRI (or CT), and electroencephalogram all normal. SPECT abnormalities were associated with behavioral and cognitive presentations and with the hypothesized anatomical areas of dysfunction in 16 cases. In six cases SPECT and MRI were equivalent, involving structural lesions or normal scans. In only one case did MRI (or CT) detect deficits not revealed by SPECT, which were nonspecific white matter lesions and atrophy. The authors conclude that SPECT scans may be superior to structural brain scans in detecting clinically relevant deficits in neuropsychiatric patients, particularly when physiological lesions are involved.

Neurological long-term follow-up in left atrial myxoma: Are late complications frequent or rare?

Neurological manifestations were analysed in 13 patients with left atrial myxoma confirmed by histological study. In this group, 6 patients had neurological complaints at initial presentation, 5 had cardiac symptoms, and 4 patients presented with signs of systemic disease. CT was performed in 10 and MRI in 7 patients. There were signs of ischaemic or haemorrhagic infarction (6 of 12) and one lesion suggestive of myxoma metastasis; other findings mainly comprised non-specific white matter lesions revealed by MRI. Neurological follow-up 0.5-8 years after tumour resection revealed no delayed neurological complications, follow-up CT and MRI findings were not suggestive of lesions acquired after operation. It is suggested that this rare condition of cardiac myxoma should be suspected in young patients with CNS symptoms or signs lacking cerebrovascular or cardiovascular risk factors and should be included in the differential diagnosis of vasculitis. With timely diagnosis and resection of the cardiac tumour the long-term prognosis can be considered improved.