Main description:

Das ist das Schwerste von aHem, was Dir das Leichteste diinket: mit den Augen zu sehen, was vor den Augen Dir liegt. Goethe, Xenien, 1797 That is the most difficult which seems the easiest: to see with your eyes what lies there to be seen. All the diseases in question here are rare. The most common, mucopolysacchari- . dosis (MPSosis III), occurs at a rate of 1 in 160000. Consequently, anyone doctor will only encounter a few cases as a rule, and the literature offers mainly casuistic descriptions. Up till now, there has been no systematic and comprehen- sive review. We thus felt that it would be of interest and benefit to prepare a collective report on a large body of material gathered over a period of many years, the material being extensive enough to provide adequate possibilities for making comparisons. In so doing, we were also able to describe for the first time the specific, and, in some cases, the pathognomonic symptoms for each disease.

Contents:

Clinical Experience.- Preliminary Remarks Concerning Cytology.- Material, Methods and Techniques.- Cytological Changes in the Various Storage Diseases.- Mucopolysaccharidoses.- Mucopolysaccharidosis I-H.- Mucopolysaccharidosis I-H/S.- Mucopolysaccharidosis II.- Mucopolysaccharidosis I-S.- Mucopolysaccharidosis III.- Mucopolysaccharidosis IV.- Mucopolysaccharidosis VI.- Mucopolysaccharidosis VII.- Mucolipidoses.- ?-Galactosidase Deficiency Type I.- ?-Galactosidase Deficiency Types II and ?-Galactosidase Deficiency Type III.- Fucosidosis.- Mannosidosis.- Aspartylglucosaminuria.- Mucosulfatidosis Austin.- Mucolipidosis I.- Mucolipidosis II.- Mucolipidosis III.- Lipidoses.- Niemann-Pick Disease.- Krabbe's Disease.- Metachromatic Leukodystrophy.- Gaucher's Disease.- Fabry's Disease.- GM2-Gangliosidoses.- Tay-Sachs Disease.- Sandhoff' s Disease.- Ceroidlipofuscinosis.- Other Storage Diseases.- Glycogenosis Type II.- Cystinosis.- Acknowledgements.- References.- Appendix: Tables 5-8.