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  • 3-Methylglutaconyl-CoA hydratase  (1)
  • Magnetic resonance imaging  (1)
  • 1
    ISSN: 1432-1920
    Keywords: Key words Sarcoma ; meningeal ; Magnetic resonance imaging ; Tumours ; intracranial ; children
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Meningeal sarcomas are very rare, highly aggressive tumours affecting children more frequently than adults. The clinical course and MRI of meningeal sarcomas in two cases are discussed with special regard to possible misinterpretation. In one case MRI demonstrated a circumscribed mass in contact with the meninges, with central areas of haemorrhage. In the other, a case of primary leptomeningeal sarcomatosis, several MRI examinations over the course of almost a year were unhelpful, despite severe neurological complaints. Then MRI revealed meningeal contrast enhancement all over the brain and spinal canal, together with cerebral infarcts. MRI of meningeal sarcomas has not been discussed in the literature. MRI did not permit specific diagnosis, but enabled visualisation of the extent of the tumour and/or meningeal involvement. Early histological diagnosis is indispensable for adequate treatment.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-1076
    Keywords: 3-Methylglutaconic aciduria ; 3-Methylglutaconyl-CoA hydratase ; Cardiac hypertrophy ; Complex I ; Cytochrome c oxidase
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In a 4.5-month-old boy presenting with marked muscular hypotonia in the neonatal period, hepatomegaly, cardiac hypertrophy, recurrent hypoglycemia, metabolic acidosis, and secondary carnitine deficiency, there was a considerable urinary excretion of 3-methylglutaconic and 3-methylglutaric acid. Estimation of 3-methylglutaconyl-CoA hydratase, 3-hydroxy-3-methylglutaryl-CoA lyase and initial enzymatic steps of cholesterol biosynthesis in cultured fibroblasts and in different tissues postmortem revealed no enzyme deficiency. Analyses of the respiratory chain in postmortem tissues demonstrated severe impairment of complex I (NADH ubiquinone oxidoreductase) and complex IV (cytochrome c oxidase) activities in skeletal muscle and reduced complex IV activity in heart.
    Type of Medium: Electronic Resource
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