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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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  • 2
    Electronic Resource
    Electronic Resource
    Fetal Krabbe leukodystrophy (1981)
    Springer
    Acta neuropathologica 53 (1981), S. 87-91 
    Details
    ISSN: 1432-0533
    Keywords: Fetal Krabbe leukodystrophy ; Galactosyl-ceramide-β-galactosidase ; Globoid cells ; Spinal cord ; Peripheral nerves
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Two new cases of Krabbe disease were diagnosed prenatally in a family with two previous affected children. The activity of galactosylceramide-β-galactosidase was virtually absent in cultured amniotic cells. The prenatal diagnosis was confirmed enzymatically in cultured fibroblasts, brain, and visceral organs. Light and electron microscopy studies in both fetuses, 20 and 23 weeks of gestational age respectively, revealed the presence of typical globoid cells in the white matter of the spinal cord. Specific inclusions were also found in the brain stem and in peripheral nerves of the second fetus. A comparison with other Krabbe disease fetuses described in the literature contributes to the consensus that abnormal morphological findings can be expected in particular in the most actively myelinating areas of the nervous system. Although most of the cells containing the specific melusions are probably non-glial in nature, some of them could represent myelination glia.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00689987
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  • 3
    Electronic Resource
    Electronic Resource
    Skin and conjunctival biopsies in infantile neuroaxonal dystrophy (1979)
    Springer
    Acta neuropathologica 45 (1979), S. 247-251 
    Details
    ISSN: 1432-0533
    Keywords: Infantile neuro-axonal dystrophy ; Skin ; Conjunctiva ; Spheroids
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The diagnosis of infantile neuro-axonal dystrophy (INAD) in a 5-year-old patient was confirmed by the ultrastructural study of neuromuscular, skin and conjunctival biopsy specimens. Abnormal networks of smooth membranous, lamellar and tubular profiles were found in presynaptic terminals and in conjunctival and dermal axons. INAD is the first neurological disease outside the group of storage disorders in which skin and conjunctival biopsies contribute significantly to the diagnosis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00702677
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  • 4
    Electronic Resource
    Electronic Resource
    I-cell disease (1984)
    Springer
    Acta neuropathologica 64 (1984), S. 234-242 
    Details
    ISSN: 1432-0533
    Keywords: I-Cell disease ; Pathology of CNS ; Mesenchymal cells ; N-Acetylglucosamine-1-phosphotransferase ; Genetic heterogeneity
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The results of postmortem examinations in four I-cell disease (ICD) patients, 2 weeks, 8.5 months, 4 and 10 years of age, respectively, are compared and evaluated. The most characteristic histological feature in ICD is the storage of membrane-bound vacuoles with fibrillo-granular contents in fibroblasts and of smaller inclusions with concentric ring-like profiles in endothelial cells. In older patients only, more heterogeneous cell inclusions with osmiophilic lamellar profiles may be found. The morphological lesions in the central nervous system (CNS) are hardly significant. Obvious abnormalities are present in the heart valves of even the very young patients, while alterations in the renal glomeruli are less severe in the long surviving patient. This difference may be viewed as histological confirmation of the proved genetic heterogeneity in ICD. The paradox of cell type-specific morphological findings on the one hand and the generalized deficiency of N-acetylglucosamine-1-phosphotransferase representing the primordial enzyme deficiency in ICD on the other, is resolved by postulating, outside the mannose-6-phosphate recognition marker targeting system, the existence of alternative mechanisms for distribution and processing of lysosomal enzymes in cells other than fibroblasts or endothelial cells.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00688114
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  • 5
    Electronic Resource
    Electronic Resource
    Deficiency of methylumbelliferyl-α-neuraminic acid neuraminidase in the sialidoses and mucolipidosis II and III (1980)
    Springer
    European journal of pediatrics 133 (1980), S. 71-72 
    Details
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00444760
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  • 6
    Electronic Resource
    Electronic Resource
    Dysplasia epiphysealis capitis femoris? (1983)
    Springer
    European journal of pediatrics 140 (1983), S. 345-347 
    Details
    ISSN: 1432-1076
    Keywords: Dysplasia epiphysealis capitis femoris ; Hip dysplasia ; Osteochondritis ; Legg-Calvé-Perthes disease ; Multiple epiphyseal dysplasia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract From the age of 22 months, a boy with bilateral dysplasia of the femoral heads has been followed clinically and radiologically for over seven years. Initial ascertainment came through his mild but persistent waddling gait. The patients is of small stature with normal linear growth parallel to the third percentile. Hypothyroidism was ruled out. Fixed traction applied at 56/12 years for almost 3 months promptly relieved the one episode of hip pain but did not alter the favorable natural course. The hip dysplasia in this proband may differ from the type of dysplasia epiphysealis capitis femoris originally defined by Meyer. As has been recognized by others, the latter probably represents several related disorders instead of only a single nosological entity. Considerations on differential diagnosis, prognosis, and management are offered.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442680
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  • 7
    Electronic Resource
    Electronic Resource
    Sonographic demonstration of portal venous gas in necrotizing enterocolitis (1988)
    Springer
    European journal of pediatrics 147 (1988), S. 192-194 
    Details
    ISSN: 1432-1076
    Keywords: Necrotizing enterocolitis ; Preterm infant ; Ultrasonics ; Portal venous gas
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Portal vein gas embolism was demonstrated by ultrasound in a preterm infant with necrotizing enterocolitis. This sign could not be detected radiographically. It is speculated that portal venous gas occurs more frequently than hitherto inferred from radiological studies. This observation points to the value of ultrasonography in providing early objective evidence in support of the diagnosis of NEC. The favourable outcome for the patient proves that portal venous gas embolism is not necessarily associated with a fulminant course of enterocolitis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442221
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  • 8
    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
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  • 9
    Electronic Resource
    Electronic Resource
    Deficiency of Arylsulphatase A in Leucocytes and Skin Fibroblasts in Juvenile Metachromatic Leucodystrophy (1970)
    [s.l.] : Nature Publishing Group
    Nature 226 (1970), S. 553-554 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] There are clinically different types of metachromatic leucodystrophy. There is a late infantile type with onset between 2 and 4 years and death in the first decade of life, and a juvenile type with onset between 12 and 16 years and death in adulthood. These seem to be genotypically distinct and ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/226553a0
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  • 10
    Electronic Resource
    Electronic Resource
    Deficiency of neuraminidase in the sialidoses and the mucolipidoses (1980)
    Springer
    Human genetics 〈Berlin〉 53 (1980), S. 383-388 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Neuraminidase activity in cultured fibroblasts from patients either with various forms of sialidosis or with I-cell disease (ICD) or mucolipidosis (ML) III has been determined by both a colorimetric and a fluorometric method. The former applied to frozen fibroblast pellets demonstrated a specific deficiency of neuraminidase in patients with the sialidoses. The enzyme was also deficient in I-cells, as were other lysosomal hydrolases. With the fluorogenic substrate these data could be confirmed and extended, and elementary kinetics of neuraminidase studied. In unfrozen freshly harvested fibroblasts, neuraminidase activity was severalfold that in frozen aliquots. A comparative and simultaneous study could not reveal substantial differences between the residual neuraminidase activity found in the various clinical forms of sialidosis. And, in fibroblasts from patients with ICD, also called ML II, the deficiency of this enzyme is quantitatively similar to that in the sialidoses, but the residual activity in ML III is three times higher. In both ML II and ML III the defect is probably secondary to the unknown metabolic error.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00287060
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