First Report on Fetal Cerebral Polyglucosan Bodies in Mucopolysaccharidosis Type VII

Figure 2

Major neuropathological findings in our case of Sly disease. ((a) and (b)) Histopathological sections from the brain showing numerous neuronal cells with remarkably foamy/vacuolated perikaryonal cytoplasm (arrow-heads; yellow) in the striatum of this 25-year-old fetus. Note also the presence of PGBs (arrows in (b)) in the neuropil. (b), (c), (d), (e), (f), and (g) illustrate the histomorphological appearance and staining characteristics of the many PGBs (some of which indicated by arrows) detected in various brain structures of this fetus, namely, the incipient cerebral white matter ((c) and (d)), the developing cortical plate of the neocortex (e), the telencephalic periventricular germinal zone (f), the striatum (b), and the developing cerebellum (g). This figure, besides, shows that at all levels of the brain, all PGBs appear to be deposited in the neuropil, and none actually look clearly intracellular with any of the various histopathological techniques we employed ((c), (d), (e), (f), and (g)). ((a) through (g)) Light microscopic photographs, Cresyl-violet (Nissl) staining ((a), (b), (e), and (f)), Hematoxylin-Eosin staining (g), and Periodic Acid-Schiff/D-amylase (PAS-D) staining ((c) and (d)). Original magnification: ×400 ((a), (b), (d) and (f)), ×250 (c), ×500 (e), and ×320 (g).

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