Summary
Light and electron microscopic findings in the nervous system of a 23-week-old fetus are reported, in which MPS II was diagnosed prenatally. The degrees of myelination and neuronal differentiation were similar as in a normal fetus of the same age. A storage of mucopolysaccharides in typical vacuolar inclusion bodies was present throughout the peripheral and central nervous system, mainly in cells of mesenchymal origin. “Zebra” bodies and granulo-membranous bodies, which are thought to represent secondary ganglioside accumulation were only found in the well developed neurons of the spinal cord and spinal ganglia, but not in the poorly developed neurons of the cerebellar and cerebral cortex. Mucopolysaccharide storage in endothelial cells of cerebral blood vessels precedes the appearance of lipid storage in cerebral neurons.
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Meier, C., Wiesmann, U., Herschkowitz, N. et al. Morphological observations in the nervous system of prenatal mucopolysaccharidosis II (M. Hunter). Acta Neuropathol 48, 139–143 (1979). https://doi.org/10.1007/BF00691155
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DOI: https://doi.org/10.1007/BF00691155