title: Storage diseases: diagnostic position.
abstract: Storage diseases are metabolic multiorgan conditions, which may be divided into lysosomal and nonlysosomal diseases. Disorders of the lysosomal type require electron microscopy for morphological diagnosis. It is the metabolic substrate that determines involvement of the cell type or organ in the individual storage disease, allowing extracerebral biopsies, for instance, in the neuronal ceroid-lipofuscinoses (NCL). A hierarchy of tissues biopsied for diagnosis can be based on easy accessibility: blood lymphocytes, skin, conjunctiva, rectum, skeletal muscle. Lysosomal diseases are divided into vacuolar and nonvacuolar ones. NCL display variegated ultrastructural patterns. Drugs may induce lysosomal storage. Finally, polyglucosan body diseases require attention.
authors: Department of Neuropathology, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany. goebel@neuropatho.klinik.uni-mainz.de
authors: Hans H
authors: HH
authors: Goebel
authors: Harald D
authors: HD
authors: Müller
mesh_terms: D001706:Biopsy; D064420:Drug-Related Side Effects and Adverse Reactions; D006801:Humans; D020192:Lafora Disease / Q000473:pathology; D016464:Lysosomal Storage Diseases / Q000139:chemically induced / Q000473:pathology*; D008247:Lysosomes / Q000187:drug effects / Q000473:pathology* / Q000648:ultrastructure; D008854:Microscopy, Electron; D011237:Predictive Value of Tests; D014617:Vacuoles / Q000473:pathology