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  • 1
    Digitale Medien
    Digitale Medien
    Ultrastructural study on nervous system of fetus with GM1-gangliosidosis type 1 (1983)
    Springer
    Acta neuropathologica 61 (1983), S. 15-20 
    Details
    ISSN: 1432-0533
    Schlagwort(e): Ultrastructure ; Fetus ; Nervous system ; GM1-gangliosidosis type 1
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Summary The nervous system of a 22-week-old fetus with GM1-gangliosidosis type 1 was studied by electron microscopy. The tissues thus examined were the cerebral cortex at the parietal region, the cerebellum, the thoracic spinal cord, the Auerbach's myenteric plexus in the large intestine and the radial nerve fibers. In the cerebral cortex, membrane-bound vacuoles, which occasionally contained stacks of fine fibrils, were observed in the large young neurons in the deeper part of the cortical plate. The neurons in the other part of the cerebral cortex carried no storage materials. In the cerebellum, the membrane-bound vacuoles with stacks of fine fibrils were seen only in the Purkinje cells. The neurons in the spinal cord also contained several zebra-like bodies and the above membrane-bound vacuoles. As for the peripheral nervous system (PNS), neurons in the Auerbach's myenteric plexus carried membranous cytoplasmic bodies and zebra-like bodies. Some of the axons in the radial nerve fibers also contained a lot of pleomorphic electron-dense bodies and a few membranous cytoplasmic ones. These results show that the accumulation of storage materials is started in the large neurons which are produced in the early stage of neurogenesis in the central nervous system (CNS). Additionally, the observed membrane-bound vacuoles are considered to be structures which occur before the membranous cytoplasmic bodies and/or the zebra-like bodies. It is also elucidated that the PNS is affected earlier than the cerebral and cerebellar cortices and thoracic spinal cord.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00688381
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  • 2
    Digitale Medien
    Digitale Medien
    Pathological study on a severe sialidosis (α-neuraminidase deficiency) (1986)
    Springer
    Acta neuropathologica 71 (1986), S. 278-284 
    Details
    ISSN: 1432-0533
    Schlagwort(e): Severe sialidosis ; α-Neuraminidase deficiency ; Neuropathology ; Congenital ascites ; Nephrosialidosis
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Summary A 56-day-old infant with α-neuraminidase deficiency, whose clinical features included severe edema of extremities and ascites which resembled those in severe infantile sialidosis, was autopsied. Perforation, whose pathogenesis was unclear, was found on the descending portion of the duodenum. Light and electron microscope studies showed that neurons in the cerebral and cerebellar corticies, and the thoracic spinal cord contained membrane-bound vacuoles but no membranous cytoplasmic bodies. Zebra bodies were found only in the neurons of the spinal cord. The neurons in the paraganglion and in the Auerbach's myenteric plexus were also distended with numerous membrane-bound vacuoles. Hepatocytes, endothelial cells and Kupffer cells in the liver and glomerular and tubular epithelial cells in the kidney were swollen with a number of vacuoles although the patient showed none of the clinical features of renal involvement. These pathological changes were similar to those in nephrosialidosis reported by Le Sec et al. [Arch Fr Pediatr 35:819–829 (1978)].
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00688050
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  • 3
    Digitale Medien
    Digitale Medien
    A severe infantile sialidosis (β-galactosidase-α-neuraminidase deficiency) mimicking GM1-gangliosidosis type 1 (1983)
    Springer
    European journal of pediatrics 140 (1983), S. 295-298 
    Details
    ISSN: 1432-1076
    Schlagwort(e): β-Galactosidase ; α-Neuraminidase ; Sialidosis ; Nephrosialidosis ; GM1-Gangliosidosis type 1
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract We observed a 3-month-old Japanese female infant with severe psychomotor retaration, coarse facial appearance, hepatosplenomegaly, and dysostosis multiplex. Only β-galactosidase was found to be deficient when the routine lysosomal hydrolase assay was performed on the patient's lymphocytes at 6 months of age. At first GM1-gangliosidosis type 1 seemed the most likely diagnosis. Later, however, additional studies (hydrolase assay in cultured skin fibroblasts, urinary oligosaccharide analysis, genetic complementation study, etc.) revealed that biochemical data of this case were in agreement with those of severe infantile sialidosis. The only important exception was that α-neuraminidase in the patient's lymphocytes showed normal activity but abnormal pH dependence toward 4-methylumbellyferyl substrate. In addition, a severely damaged kidney suggested that his case may be classified as a unique type of severe infantile sialidosis (possible nephrosialidosis). These observations stress the importance of careful biochemical diagnosis of a case with GM1-gangliosidosis type 1 phenotype.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00442667
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