Bone marrow nonneoplastic
Storage-type histiocytosis
Uncommon storage diseases
Author: Nat Pernick, M.D.
Last author update: 1 December 2006
Last staff update: 9 December 2021
Copyright: 2002-2024, PathologyOutlines.com, Inc.
PubMed Search: Bone marrow storage diseases
Table of Contents
Cystinosis | Fabry disease | Mucopolysaccharidosis type VII | Microscopic (histologic) images | Positive staining - disease | Electron microscopy description | Electron microscopy images | Differential diagnosis of foam cell changeCite this page: Pernick N. Uncommon storage diseases. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/bonemarrowuncommonstorage.html. Accessed November 30th, 2024.
Cystinosis
- Nephrotic cystinosis is a rare autosomal disorder with defective cysteine transport out of lysosomes
- Treated with cysteamine
- Case report: 23 year old man with crystalline histiocytosis in hereditary cysinosis (Arch Pathol Lab Med 2002;126:1135)
- Histology: crystals in marrow histiocytes and giant cells
- Electron microscopy: various abnormal findings (J Clin Pathol 2005;58:939)
- References: eMedicine: Cystinosis
Fabry disease
- Also called alpha galactosidase A deficiency, angiokeratoma corporis diffusum universale
- X linked (Xq22.1) recessive lysosomal storage disease that affects 1 per 40,000
- Due to deficiency in lysosomal alpha galactosidase A, which catabolizes neutral glycosphingolipids
- High penetrance in hemizygous males with symptoms at infancy or childhood
- Heterozygous females have later age of presentation, more variable severity due to lyonization of X chromosome
- May have normal leukocyte alpha galactosidase A activity
- Deficiency causes intracellular accumulation of galabiosylceramide (ceramide trihexoside) and digalactosyl ceramide within skin, renal glomeruli and tubular epithelium, blood vessels, corneal epithelium, myocardium and ganglion cells
- Frequently misdiagnosed
- Case reports: 32 year old man with recurrent fevers of unknown origin (University of Pittsburgh: Recurrent Fevers of Unknown Origin); 32 year old man (Arch Pathol Lab Med 1980;104:17)
- Treatment: recombinant human alpha galactosidase A replacement therapy has only a modest effect, perhaps due to heterogeneous distribution (Mol Genet Metab 2007;90:307)
- Histology: cells with small globular, lightly eosinophilic inclusions
Mucopolysaccharidosis type VII
- Very rare lysosomal storage disease due to deficiency of beta glucuronidase, which degrades glycosaminoglycans
- Causes progressive accumulation of glycosaminoglycans and subsequent lysosomal distension in multiple tissues
- Histology: Alder-Reilly granules in neutrophils, monocytes, basophils and eosinophils; cytoplasmic inclusions surrounded by clear vacuoles in lymphocytes, plasma cells, osteoblasts, macrophages
- Positive stains: granulocytes, monocytes, lymphocytes - acid phosphatase
- References: Am J Clin Pathol 1982;78:544, eMedicine: Genetics of Mucopolysaccharidosis Type VII, Wikipedia: Sly Syndrome
Microscopic (histologic) images
Images hosted on other servers :
Fabry disease:
Kidney: podocytes are diffusely distended by intracytoplasmic vacuoles; scattered foam cells in interstitium
Kidney: PAS shows podocytes with foamy cell change
Lymph nodes: reactive hyperplasia
Positive staining - disease
- Fabry disease: PAS, Oil red O, Sudan black, Luxol fast blue (all stain glycolipid and phospholipid-like material)
Electron microscopy description
- Fabry disease:
- Characteristic single membrane bound intracellular inclusions (myelin-like figures, zebra bodies) that are 0.1 to 10 microns in diameter
- Round and lamellated with concentric electron dense layers
- Found in endothelial and smooth muscle cells, myocardium, fibroblasts and glomerular epithelium, urine sediment (Arch Pathol Lab Med 1981;105:361)
Electron microscopy images
Images hosted on other servers - cystinosis:
Normal platelets
Platelets contain variable dense granules
Platelet undergoing spontaneous release
Differential diagnosis of foam cell change
- Fucosidosis
- Gangliosidoses
- Gaucher disease
- Mucopolysaccharidoses: all have different intracellular distribution and ultrastructural features of inclusions, can detect by laboratory assays
- Treatment with chloroquine, amiodarone or aminoglycosides: have similar myelin-like figures (Hum Pathol 2003;34:285)
