1/9. CT, MRI, and autopsy findings in brain of a patient with MELAS.brain autopsy findings in a 14-year-old patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes were compared with those of computed tomography (CT) and magnetic resonance imaging (MRI). Pathologic examinations revealed extensive laminar necrosis bordered by gliotic tissues throughout the cerebral cortices. Moderate losses of myelin and fibrous gliosis were also observed in the subcortical and deep white matter. These lesions were demonstrated as low-density areas on CT and as high-signal areas on T2-weighted MRI. MRI revealed the lesions more distinctively and precisely than CT. Neither CT nor MRI could reveal abnormalities in the basal ganglia, including vascular proliferation and calcium deposits in the blood vessels.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
2/9. Serial MR studies in Menkes disease.We describe a characteristic combination of findings in a patient with Menkes disease who was serially imaged with magnetic resonance over 2 months. Abnormal intracranial vessels were demonstrated as was the progression of white matter disease.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
3/9. Disseminated necrotizing encephalopathy induced by methotrexate therapy alone.This report describes the autopsy findings in a 62-year-old woman who died of pneumonia and disseminated necrotizing encephalopathy following intrathecal methotrexate (MTX) therapy for meningeal infiltration of lymphoma cells. radiation therapy was not given. An interesting pathological finding was exudation of fibrin around the small vessels in the demyelinated foci, suggesting increased vascular permeability. This observation and analysis of previous reports of similar cases suggest that primary vascular injury, probably due to the direct effect of MTX, may be involved in the pathogenesis of MTX-related disseminated necrotizing encephalopathy.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
4/9. Menkes disease--an autopsy case with metal analysis of hair.We report the first case of Menkes' disease in korea, occurring in a 1 1/2 year old boy with characteristic clinical, arteriographic and pathologic features. Postmortem examination revealed widespread neuronal destruction and abnormally tortuous and elongated large arteries including cerebral, visceral and limb vessels. Microscopically, many of the hairs formed were twisted (pili torti), of varying caliber (monilethrix), and fractured (trichorrhexis nodosa). In the radioactivated analysis of scalp hair, copper elements was not found. The abnormal vessels were characterized by fragmentation and disruption of the internal elastic lamina with intimal proliferation. The neuronal destruction was widespread in the cerebral gray matter and in the cerebellum, and there was associated gliosis. The changes in the cerebellum were particularly severe, with neuronal loss in the internal granular cell layer. Many purkinje cells were lost, and the remainder showed unusual dendritic sprouts from the cell body and grotesque proliferation of dendritic tree. In other organs, mild chronic peribronchitis, and scattered foci of immature glomeruli in renal cortex were noted.- - - - - - - - - - ranking = 2keywords = vessel (Clic here for more details about this article) |
5/9. copper-measurement in a muscle-biopsy. A possible method for postmortem diagnosis of Menkes disease.A 5-month-old boy showed severe delay in mental and motor development. His hair was normal. He died at 18 months from bronchopneumonia. autopsy of the brain revealed meningo-cerebral angiodysplasia with tortuous vessels at the surface of the brain. This raised a suspicion of Menkes disease. A muscle-biopsy, the only remaining tissue from the patient, showed an increased copper-content, thus corroborating the suspicion of Menkes disease. copper-uptake studies on 2 independent repeatedly tested fibroblast-cultures from the mother gave normal values in 4 and elevated levels in three tests. Such a pattern is often seen in carriers of Menkes disease. Furthermore one of the test values was above the critical limit. Just one value above this limit for females from families with Menkes disease will unequivocally classify a woman as a carrier irregardless of her genetic risk. This is to our knowledge the first time copper-measurements in tissues have been used to establish a post-mortem diagnosis of Menkes disease.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
6/9. CT scans in Menkes disease.The clinical courses and serial computerized tomography (CT) scans of four patients with Menkes disease are described. Although the initial clinical presentations were similar, head growth and serial CT scans showed striking individual differences. The CT scans varied from showing no abnormalities early in the disease to showing diffuse cortical atrophy, subdural accumulation of fluid, or multifocal areas of ischemic infarction. The pathologic findings in one patient showed only cerebral and cerebellar atrophy, whereas the findings in another patient showed areas of ischemic infarction, probably secondary to abnormal vessels. Menkes disease should be suspected in male infants with psychomotor deterioration and seizures, or when trauma is suspected from subdural hematoma and multiple fractures.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
7/9. CT manifestations of Menkes' kinky hair syndrome (trichopoliodystrophy).A patient with Menkes' syndrome is reported. This patient has survived to the age of six years without mental retardation, and shows previously unreported computed tomographic (CT) findings of tortuous vessels and unusual osseous manifestations of undertubulation of long bones and posterior vertebral body scalloping.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
8/9. On the association of excess glycogen granules and polyglucosan bodies (corpora amylacea) in astrocytes of a 17-year-old patient with a neurologic disease of unknown origin: clinical, biochemical, and ultrastructural observations.The case of a 17-year-old patient with a severe progressive neurologic disease is presented. Enzymatic studies revealed that total activity of both hexosaminidases A and B against the synthetic substrate was markedly reduced and that hexosaminidase b activity, studied by heat inactivation and isoelectric focusing, was even more reduced. rectum and skin biopsies studied by electron microscopy were non-contributory. brain biopsy was histologically normal. With electron microscopy many filamentous bodies were observed mainly in astrocytic processes; they were interpretable as intra-astrocytic polyglucosan bodies (the corpora amylacea variety of polyglucosan bodies). In addition, an excess of non-membrane-bound glycogen particles, mostly within astrocytes, was also present. Some degree of gliosis was noticed, as well as thickening and redundancy of the basement membrane of capillary vessels. The case is discussed and compared with the conditions described in the literature where either accumulation of glycogen or formation of polyglucosan bodies (corpora amylacea, Lafora-like bodies, Lafora bodies, Bielschowsky bodies, amylopectin bodies), or both occur. Since none of them, however, adequately fit the present case, it must remain undiagnosed.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
9/9. stroke in purine nucleoside phosphorylase deficiency.The first documented case of cerebrovascular disease occurring in a 13-year-old girl with purine nucleoside phosphorylase deficiency is reported. This patient, the oldest known survivor with purine nucleoside phosphorylase deficiency, had previously experienced multiple sequential neurologic problems. She presented with episodes of transient left hemiparesis, followed shortly thereafter by dense left hemiplegia. magnetic resonance imaging revealed a right internal capsule infarct; cerebral angiography revealed vasculopathy of the proximal vessels. Proposed mechanisms for neurologic dysfunction and cerebrovascular disease in purine nucleoside phosphorylase deficiency are discussed.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |