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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Acta neuropathologica 61 (1983), S. 153-156 
    ISSN: 1432-0533
    Keywords: Cockayne syndrome ; Neuropathy ; Segmental demyelination ; Schwann cell inclusions
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary We studied three unrelated infants and three adolescent siblings with Cockayne syndrome. The infants showed severe psychomotor retardation. Neurologic manifestations in the siblings were less severe and only slowly progressive. All patients had slowed peripheral nerve conduction. Nerve biopsies demonstrated segmental demyelination and remyelination in each case. In the infantile cases this process was severe and rapidly progressive; in the juvenile cases it was mild and chronic. Distinctive membrane-bound polymorphous inclusions were found in occasional Schwann cells.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-0533
    Keywords: Muscle-eye-brain disease ; Fukuyama type of congenital muscular dystrophy ; Neuropathological differentiation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Congenital muscular dystrophy (CMD) associated with cerebro-ocular dysplasia named muscle-eye-brain disease (MEB-D) is described in two sisters. Progressive hypotonia, mental retardation and severe visual failure appeared immediately after birth. Pathological examination demonstrated muscular dystrophy, hydrocephalus, type II lissencephaly and defective eye development of foetal origin. The great similarity of the clinical and neuropathological picture of both sisters is in agreement with an autosomal recessive inheritance. Neuropathological distinction between Fukuyama-CMD and MEB-D is a more severe and earlier cerebral developmental defect and the association with ocular dysplasia in MEB-D.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-1076
    Keywords: Arteriovenous aneurysm of the great cerebral vein of Galen ; Ultrasound duplexcanning ; Transfontanellar cerebral echography ; Doppler flow (velocity) measurements
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Using combined echoencephalography and Doppler flow determination the diagnosis Arteriovenous aneurysm of the great cerebral vein of Galen could be made in two infants. Without vascular surgery one patient died, the other recovered completely. CT scanning confirmed the diagnosis. Invasive methods such as cerebral angiography were avoided. Case histories, neuropathological findings, ultrasound method and results are presented. Pathogenesis, clinical signs, treatment and prognosis are discussed. With the ultrasound method presented, the nature and location of the vascular anomaly were demonstrable, thus additional higher risk diagnostic methods could be avoided or planned more purposefully.
    Type of Medium: Electronic Resource
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