Many of the so-called errors in metabolism, the storage diseases, produce inclusions or vacuoles in the tissues of affected individuals. The placenta is often similarly involved, and chorionic villous biopsy (CVS) is now often employed to make the diagnosis prenatally, as for instance when diagnosing lipofuscinosis (Rapola et al., 1990). Electron microscopy and special enzyme studies may be necessary for the precise diagnosis of the defect involved. Thus appropriate fixation is needed and must be anticipated at the time of CVS, as many of the inclusions are highly water- and lipid-solvent-soluble. An excellent ultrastructural study of 11 cases has been reported by Jones et al. (1990) that details procedures and findings. It also depicts the findings in admirable detail and provides additional literature.
KeywordsStorage Disease Glycogen Storage Disease Type Neuronal Ceroid Lipofuscinosis Mucolipidosis Type Myelin Body
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