Cases reported "Brain Diseases, Metabolic"

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1/4. brain lactic alkalosis in Aicardi-Goutieres syndrome.

    Aicardi-Goutieres syndrome is a rare progressive encephalopathy characterized by acquired microcephaly, basal ganglia calcification, and chronic CSF lymphocytosis, raised levels of interferon alpha in CSF and plasma and chill-blain type lesions. A possible mechanism of injury is cytokine related microangiopathy. We report brain imaging and proton (1H) and phosphorus-31 (31P) magnetic resonance spectroscopy (MRS) findings during the first year after birth in two patients. In patient 1 the evolution of brain metabolite ratios and intracellular pH obtained from serial 1H (long TE) and 31P MRS studies are described; in patient 2 a single 1H (short TE) MRS study is described. Imaging findings included basal ganglia calcifications, cerebral atrophy, and leukodystrophy. The MRS results demonstrated that Aicardi-Goutieres syndrome is associated with reduced NAA/Cr, reflecting decreased neuronal/axonal density or viability, increased myo-inositol/Cr, reflecting gliosis or osmotic stress and a persisting brain lactic alkalosis. A brain lactic alkalosis has also been observed in those infants surviving perinatal hypoxia-ischaemia but with a poor neurodevelopmental outcome. A possible mechanism leading to brain alkalosis is up-regulation of the Na /H transporter by focal areas of ischaemia related to the microangiopathy or by pro-inflammatory cytokines. Such brain alkalosis may be detrimental to cell survival and may increase glycolytic rate in astrocytes leading to an increased production of lactate.
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ranking = 1
keywords = astrocyte
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2/4. Oligodendrocytes within astrocytes ("emperipolesis") in the cerebral white matter in hepatic and hypoglycemic encephalopathy.

    We report the occurrence of oligodendrocytes within astrocytes ("emperipolesis") in two autopsy cases of metabolic encephalopathy: one patient with hepatic encephalopathy due to citrullinemia who suffered recurrent unconsciousness (clinical duration, 32 months) and another with hypoglycemic encephalopathy who lapsed into a persistent vegetative state (clinical duration, 22 months). In both cases, hypertrophic astrocytes were found to have engulfed one to several oligodendrocytes in the devastated cerebral white matter. Previous studies have reported that emperipolesis occurs in various CNS diseases showing destruction of myelin or inflammation of the white matter, including multiple sclerosis, cerebral infarct and CJD. The present findings suggest that emperipolesis can occur even in chronic metabolic disorders that extensively involve the cerebral white matter.
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ranking = 6
keywords = astrocyte
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3/4. brain and liver pathology in a patient with carnitine deficiency.

    The ultrastructural brain and liver pathology in an infant, who died of acute encephalopathy due to systemic carnitine deficiency (CD), an important condition mimicking Reye's syndrome (RS), was reported. The major finding in the brain was swelling of astrocyte cytoplasm. Expanded mitochondria in nerve cells and myelin sheath splitting in the white matter, which have been reported to be specific to RS, were not observed. Also in contrast to findings in RS, hepatocytes were filled with macrovesicular fat droplets without expanded mitochondria. These findings suggest significant differences in the pathophysiology of acute encephalopathy in CD and RS, although the clinical and laboratory findings during an episode of acute encephalopathy in the former are usually very similar to those in the latter.
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ranking = 1
keywords = astrocyte
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4/4. 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.
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ranking = 5
keywords = astrocyte
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