1/70. Vasculopathic changes of cadasil can be focal in skin biopsies.Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (cadasil) is a newly described cause of vascular dementia. Pathologic examination shows multiple small infarcts in the deep cerebral white matter together with a nonatherosclerotic, nonamyloid angiopathy involving the media of small cerebral arteries. Ultrastructurally, characteristic granular material is present in the basal lamina of vascular smooth muscle cells in cerebral and extracerebral blood vessels. The ultrastructural changes have also been demonstrated in skin biopsies of affected patients; consequently, some investigators have recently recommended skin biopsies for the diagnosis of cadasil. This study describes a 54-year-old male with a family history for strokes who had clinical and radiological features suggestive of cadasil. A skin biopsy was performed to confirm the diagnosis. Initially, the characteristic vasculopathic changes of cadasil were not identified within small blood vessel walls. However, multiple deeper sections in other areas showed electron-dense material associated with vascular smooth muscle cells, characteristic of cadasil. Subsequent genetic testing demonstrated a single nucleotide substitution at position 659 on chromosome 19p13.1 causing an amino-acid change (Cys --> Phe), a finding indicative of cadasil. The involvement of blood vessels within the dermis makes skin biopsy a useful adjunct in the diagnosis of cadasil. However, as illustrated by this case, the findings may be focal, requiring a thorough evaluation of the entire biopsy specimen.- - - - - - - - - - ranking = 1keywords = leukoencephalopathy (Clic here for more details about this article) |
2/70. Early thalamic and cortical hypometabolism in adult-onset dementia due to metachromatic leukodystrophy.A case of early-onset adult dementia with family history of dementia is reported, characterised by neuropsychological deficits, suggesting frontal involvement, with mild non specific white matter abnormalities on CT scan. Familial Alzheimer's disease was suspected but the neuropathological diagnosis on brain biopsy was metachromatic leukodystrophy. 18FDG-PET revealed a very peculiar pattern of metabolic impairment in thalamic areas, in medial and frontopolar regions, and in occipital lobes. Neuropsychological follow-up showed relatively stable difficulties of long-term memory and signs of frontal lobe dysfunction, similar to those observed in subcortical dementias. MRI subsequently showed periventricular leukoencephalopathy. The brain metabolic pattern observed in that case of metachromatic leukodystrophy was quite different from that reported in other types of dementia.- - - - - - - - - - ranking = 1keywords = leukoencephalopathy (Clic here for more details about this article) |
3/70. Neurologic sequelae of treatment of primary CNS lymphomas.Novel efficient and aggressive treatment protocols for primary CNS lymphomas have resulted in an increasing number of long term survivors. Follow up data show that in a substantial fraction of these patients, treatment benefits are overshadowed by neurotoxic sequelae. Neurotoxicity especially affects the older age group, presenting as cognitive dysfunction, ataxia or dementia as a consequence of leukoencephalopathy and brain atrophy. The combination of radiotherapy and chemotherapy seems to be particularly hazardous, though data are too sparse to draw any definite conclusions yet. Long term follow up of patients included in clinical studies therefore should not only evaluate survival or time to tumour progression, but also serial neuropsychometric evaluation and quality of life assessment.- - - - - - - - - - ranking = 1keywords = leukoencephalopathy (Clic here for more details about this article) |
4/70. Fatal retroperitoneal haemorrhage: an unusual complication of percutaneous endoscopic gastrostomy.A 93-year-old lady with dementia, neurological dysphagia and aspiration pneumonia, died from massive retroperitoneal haemorrhage which developed as a rare and, it is believed, hitherto unreported, complication of percutaneous endoscopic gastrostomy (PEG), which was performed for feeding purposes. It is postulated that the initial, unsuccessful attempt at needle puncture of the stomach, under endoscopic guidance, had resulted in iatrogenic perforation and laceration of the splenic and superior mesenteric veins close to their confluence with the portal vein. It would also appear that dense fibrous adhesions between the pyloro-antral region of the stomach and the posterior hepatic surface had altered the immediate anatomical relations of the stomach in such a manner as to have predisposed to these events.- - - - - - - - - - ranking = 0.0026557075457944keywords = posterior (Clic here for more details about this article) |
5/70. cadasil: neuropsychological findings in three generations of an affected family.Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (cadasil) is a hereditary brain disease with a variety of neurologic and psychiatric manifestations. We studied 3 members of a family who each had leukoencephalopathy on neuroimaging studies and a characteristic mutation for cadasil in the notch 3 region of chromosome 19q12. In all 3 cases, neurobehavioral impairment dominated the clinical picture, and a pattern of psychiatric dysfunction heralding cognitive decline emerged. Neuropsychological evaluation revealed diverse deficits, but a profile of frontal lobe dysfunction, declarative memory impairment suggestive of a retrieval deficit, and relatively preserved language was evident. These cases provide a cross-sectional study of the evolution of cadasil, and suggest that, as in other diseases characterized by white matter dementia, psychiatric dysfunction may occur initially, followed by pervasive cognitive dysfunction later in the course of the disease. cadasil should be considered in young adults with unexplained leukoencephalopathy on neuroimaging studies, and in those with neurobehavioral dysfunction and a suggestive family history.- - - - - - - - - - ranking = 3keywords = leukoencephalopathy (Clic here for more details about this article) |
6/70. adult-onset Leukoencephalopathy with vanishing white matter presenting with dementia.We report on a case of dementia and extensive cerebral white matter abnormalities seen on magnetic resonance-images which meet the criteria for leukoencephalopathy with vanishing white matter. This is an inherited condition that was first thought to occur only in children. Our patient shows that vanishing white matter should be considered in adult patients with early-onset dementia and extensive white matter changes seen on magnetic resonance images.- - - - - - - - - - ranking = 1keywords = leukoencephalopathy (Clic here for more details about this article) |
7/70. Reversible leukoencephalopathy in cerebral amyloid angiopathy presenting as subacute dementia.This report concerns a 71-year-old woman who had rapid progressive dementia along with myocloni and increased blood pressure. Cranial computed tomography and magnetic resonance imaging scans showed bilateral widespread white matter changes with mass effect. A brain biopsy revealed an amyloid angiopathy in leptomeningeal as well as cerebral cortex arteries. After 2 months of antihypertensive treatment, a dramatic improvement of cognitive functions and a spectacular regression of leukoencephalopathy were observed. We suggest that hypertensive encephalopathy may worsen or reveal cerebral amyloid angiopathy.- - - - - - - - - - ranking = 5keywords = leukoencephalopathy (Clic here for more details about this article) |
8/70. Neuroaxonal leukoencephalopathy with axonal spheroids.A 51-year-old woman with no significant family history exhibited progressive presenile dementia followed by right-sided spastic hemiplegia and died 27 months after the onset of her illness. brain MRI demonstrated a widespread abnormality in the cerebral deep white matter and corpus callosum. Neuropathologically, extensive destruction of axons and myelin and abundant axonal spheroids were found in the deep white matter, preferentially of the frontoparietal areas. The corpus callosum was also severely damaged. The cerebral cortex and subcortical U fibers remained intact. The pathological features were different among the lesions, reflecting the sequential degenerative processes of the white matter. This case is, to our knowledge, the third sporadic case of neuroaxonal leukoencephalopathy with axonal spheroids.- - - - - - - - - - ranking = 5keywords = leukoencephalopathy (Clic here for more details about this article) |
9/70. Cholinergic denervation in a pure multi-infarct state: observations on cadasil.Circumstantial evidence suggests that vascular dementia (VaD) may be associated with cholinergic denervation. The specificity of this association has been difficult to assess because many of the patients are elderly and have the additional cholinergic lesions of aging and AD. A patient with cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (cadasil) who died at age 36 showed that pure white matter infarcts, similar to those seen in VaD, can cause cortical cholinergic denervation, but in patterns that vary from those seen in AD.- - - - - - - - - - ranking = 1keywords = leukoencephalopathy (Clic here for more details about this article) |
10/70. meningioma showing VHL gene inactivation in a patient with von hippel-lindau disease.The genetic mechanism of the tumorigenesis of meningioma in conjunction with von Hippel-Lindau (VHL) disease is unclear. The authors present a case of VHL disease associated with a posterior fossa meningioma and with multiple cerebellar hemangioblastomas. A germline mutation of the VHL gene and loss of heterozygosity on the VHL gene locus in 3p were detected in the meningioma. Tumorigenesis of a meningioma associated with VHL disease could be caused by inactivation of both alleles of the VHL gene.- - - - - - - - - - ranking = 0.0026557075457944keywords = posterior (Clic here for more details about this article) |
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