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  • 1
    ISSN: 1433-0474
    Keywords: Schlüsselwörter Akute demyelinisierende Enzephalomyelitis ; Multiple Sklerose ; Zerebrale Kernspintomographie ; Neuropathologie ; Key words Acute demyelinating encephalomyelitis ; Multiple sclerosis ; Cerebral MRI ; Neuropathology
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Multiple sclerosis is a rare disease in childhood. A 10 1/2 year old girl developed a rapidly ongoing paresis of the right leg accompanied by paresthesia, sphincter incompetence and retrobulbar neuritis. Results: Laboratory tests including examination of the cerebrospinal fluid were normal. Magnetic resonance imaging (MRI) of the brain revealed multiple circular lesions with central hypodensities in both hemispheres. A biopsy of the brain was performed. The histological picture showed changes of acute demyelinating encephalomyelitis also visible in early and subacute stages of multiple sclerosis. Discussion: Unusual findings especially of the MRI made it more difficult in this case to find the correct diagnosis.
    Notes: Zusammenfassung Die Multiple Sklerose ist eine seltene Erkrankung im Kindesalter. Bei einem 10jährigen Mädchen entwickelte sich eine rasch fortschreitende Parese des rechten Beins, begleitet von vegetativen und sensiblen neurologischen Ausfällen sowie einer Retrobulbärneuritis. Befund: Die Laboruntersuchungen einschließlich der Liquordiagnostik ergaben unauffällige Befunde. Mit Hilfe der Kernspintomographie waren mehrere, max. 3×3 cm2 große, zentral hypodense Rundherde in beiden Großhirnhemisphären erkennbar. Aus einer Läsion wurde stereotaktisch Hirngewebe entnommen. Histologisch ließen sich Veränderungen nachweisen, die sowohl in einer Frühform als auch im subakuten Stadium einer multiplen Sklerose beobachtet werden. Die klinisch vermutete Diagnose einer akuten demyelinisierenden Enzephalomyelitis wurde damit auch neuropathologisch bestätigt. Diskussion: Die ungewöhnlichen Befunde insbesondere der Kernspintomographie erschwerten in diesem Fall die Diagnosefindung.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The ratio of mtDNA and a nuclear reference gene was estimated by Southern blotting in the skeletal muscle DNA of a 3-year-old girl who suffered from congenital brain damage, focal epilepsy, hepatomegaly, malabsorption syndrome and severe myopathy. The signal ratio of mtDNA versus 18S rDNA was 22% of the mean value obtained from controls. No major deletions or insertions were found and the MERRF, MELAS and NARP mutations were ruled out. Mitochondrial DNA-encoded enzyme activities and mitochondrial respiration were reduced. The analysis of the NAD(P)H and flavoprotein redox states of intact fibres revealed the presence of mitochondrial dysfunction. In tissue sections a moderate elevation of type I and type II fibre diameter variation was detected, aberrant NADH- and succinate dehydrogenase staining and some ragged red fibres. This suggested that a mitochondrial disorder caused by a decrease in the amount of intact wild-type mtDNA was responsible for the severe myopathy.
    Type of Medium: Electronic Resource
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