By Dr. Hans Georg Hansen, Elisabeth Graucob (auth.)
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Extra resources for Hematologic Cytology of Storage Diseases
Example text
In order to provide a summary, we have schematically given the morphological particularities of the different MPSoses. The distinguishing marker cell for both blood and bone marrow is emphasized in each disorder (Fig. 25a, b). 34 23a 23c 24a Fig. 23a-d. MPSosis VII. Blood. a Neutrophilic polymorphs with very dense, but relatively fine granulation. b Eosinophil with coarse red-violet granulation. c Dense, fine granulation in monocyte. d Lymphocyte with little cytoplasm and numerous fine granules crowded round the nucleus.
26 IS 16u 16b 16c Fig. 15. MPSosis I- S. Blood lymphocyte with several fine granules. Fig. 16a-c. MPSosis I- S. Bone marrow. Different degrees of mainly fine granular storage in reticulum cells. The normal spindle shape is usually retained. a Very sparse, fine granules in the plasma cell. (a-c Magnification, x 500). 27 Mucopolysaccbaridosis III (Heparan Sulfate Sulfamidase or N-Acetyl-glucosaminidase Deficiency Synonym: Sanfilippo's Syndrome [49] The morphological findings of the various forms differ as little as their clinical pictures.
Fig. 33a--e. Mannosidosis. Bone marrow. a-c The especially characteristic plasma cells. a Onset of vacuolation at lower left compared with already more distinct and very coarse vacuoles, above right. b, c Very numerous, distinct, uniform vacuoles, widened cytoplasm. d, e Reticulum cells with mixed, fine to very coarse vacuolation. Additionally, in e, pale blue plaques and cell phagocytosis. 46 47 Aspartylglucosaminuria (Aspartylglucosaminidase Deficiency) [42] This disease is apparently not only rare, but hardly known at all outside Finland, and then only in isolated cases [5, 15, 23, 42].