نتایج جستجو برای: leukoencephalopathy
تعداد نتایج: 4847 فیلتر نتایج به سال:
The combination of bilateral lytic lesions in the bones of the lower and upper extremities and presenile dementia is characteristic of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, also known as Nasu-Hakola disease. The clinical course of this rare and fatal disorder is characterized by pathologic fractures of these often painful lesions, rapid progression of dem...
Canavan disease (CD) is a rare autosomal recessive genetic disorder characterized by early onset progressive spongy degeneration of the brain involving the axon's myelin sheath. Patients with CD have leukoencephalopathy and megalencephaly; clinically they show a variable course ranging from slow neurodegenerative course to no neurological development or rapid regression. Current treatment is sy...
Delayed leukoencephalopathy is an uncommon complication of hypoxic-ischemic events of different etiologies, including carbon monoxide intoxication. We present a case of a 40-year-old male patient who was admitted with rapidly progressive neurocognitive and behavioral deficits. There was a history of accidental carbon monoxide intoxication one month before, presenting with loss of consciousness ...
BACKGROUND Toxic leukoencephalopathy has been described with inhalation and intravenous consumption of heroin and cocaine. The clinical picture varies widely but the imaging and histological features are characteristic. Magnetic resonance imaging (MRI) typically reveals diffuse bihemispheric white matter lesions. Histologically there is extensive spongiform degeneration of the cerebral white ma...
CADASIL (Cerebral Autosomal Dominant Arteriopati, Subcortical Infarcts, Leukoencephalopathy) 19. kromozomun kisa kolunda lokalize Notch3 gen mutasyonu sonucu gelisen otozomal dominant gecisli ailesel kucuk damar hastaligidir. Klinik olarak tekrarlayan inme ataklari, migren veya migrenoz basagrilari, epileptik nobetler ve progresif kognitif bozukluk ile karakterizedir. Bu yazida klinik dusundugu...
PURPOSE To describe the MR appearances of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. METHODS MR examinations were performed on 15 family members (both symptomatic and asymptomatic). The phenotype was defined by the presence of abnormalities on MR scanning in genetically susceptible individuals. RESULTS There were 10 abnormal and 5 normal MR s...
OBJECTIVES The study was focused on leukoencephalopathies of unknown cause in order to define a novel, homogeneous phenotype suggestive of a common genetic defect, based on clinical and MRI findings, and to identify the causal genetic defect shared by patients with this phenotype. METHODS Independent next-generation exome-sequencing studies were performed in 2 unrelated patients with a leukoe...
The cellular prion protein PrP(C) confers susceptibility to transmissible spongiform encephalopathies, yet its normal function is unknown. Although PrP(C)-deficient mice develop and live normally, expression of amino proximally truncated PrP(C) (DeltaPrP) or of its structural homolog Doppel (Dpl) causes cerebellar degeneration that is prevented by coexpression of full-length PrP(C). We now repo...
BACKGROUND Hereditary diffuse leukodystrophy with spheroids is a rare type of leukoencephalopathy. Mutations in the colony stimulating factor 1 receptor have recently been identified to be the cause of this microgliopathy. Clinical and radiological presentation can often misguide physicians during the diagnosis of patients with this underdiagnosed disease. CASE PRESENTATION We present a 29 ye...
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