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  • 1
    Electronic Resource
    Electronic Resource
    I-Cell disease (Mucolipidosis II) (1975)
    Springer
    Acta neuropathologica 33 (1975), S. 285-305 
    Details
    ISSN: 1432-0533
    Keywords: I-cell disease ; Membrane-bound vacuoles ; Fibroblasts ; Mucopolysaccharidoses ; Mucopolipidoses
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The single most characteristic morphological feature in I-cell disease (ICD) is the accumulation of membrane-bound vacuoles in mesenchymal cells (mainly fibroblasts). No true storage can be documented in those vacuoles. That their contents could have been dissolved during fixation or embedding remains however a possibility. Remnants consisting of a few lamellar arrays and of small amounts of fibrillo-granular material are too scarce for histochemical characterization. In hepatocytes large cells in the white pulp of the spleen and in myocardial fibers, vacuoles with fixative insoluble contents have been discovered; they are nowhere very abundant and their specificity is questionable. Because the affected fibroblastic elements represent a small fraction in any organ, most secondary biochemical abnormalities are expected to be detectable only in purely fibroblastic tissues. Our pathological study contributes to the understanding of some of the clinical features characteristic of ICD and stresses major morphological differences between ICD and the many diseases classified as mucopolysaccharidoses and mucolipidoses.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00686161
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Fungal intracranial aneurysm in a child with familial chronic mucocutaneous candidiasis (1999)
    Springer
    European journal of pediatrics 158 (1999), S. 650-652 
    Details
    ISSN: 1432-1076
    Keywords: Key words Fungal aneurysm ; Familial mucocutaneous candidiasis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report on a patient who presented at 5 years of age with a hemiparesis due to a middle cerebral artery infarction. An embolism had originated from a mycotic aneurysm located in the internal carotid artery. For several months prior to admission he had been suffering from therapeutically resistant candidiasis of the mouth and nails. Family history revealed chronic mycotic infections of the skin, hair, nails and mouth in the father and paternal grandmother suggestive of chronic mucocutaneous candidiasis with autosomal dominant mode of inheritance. Clipping of the aneurysm, after 3 months of anti-mycotic treatment, followed by sustained treatment with itraconazole and fluconazole, led to a favourable outcome. Conclusion Chronic mucocutaneous candidiasis can be associated with an intracranial aneurysm and complicated by cerebral infarction.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310051169
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
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