Fetal Storage Disorders

  • Kurt Benirschke
  • Peter Kaufmann


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 villus biopsy (CVS) is now more often employed to make the diagnosis prenatally, as for instance when diagnosing lipofuscinosis (Rapola et al., 1990). Electron microscopy and special enzyme studies are usually helpful for the precise diagnosis of the defect involved. Thus, appropriate fixation is needed when such disease is suspected and it must also be anticipated at the time of CVS, as many of the inclusions are highly waterand lipid-solvent soluble. Because many of these diseases are the cause of fetal hydrops, the cases of nonimmune hydrops fetalis warrant special attention. An excellent ultrastructural study of 11 cases has been published by Jones et al. (1990) that details procedures and findings, and Fox (1997) has shown other material. These publications depict the findings in admirable detail and provide additional literature. Table 18.1 summarizes the current status of placental studies in various storage disorders.


Cell Disease Storage Disease Lysosomal Storage Disease Glycogen Storage Disease Type Neuronal Ceroid Lipofuscinosis 
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Copyright information

© Springer Science+Business Media New York 2000

Authors and Affiliations

  • Kurt Benirschke
    • 1
  • Peter Kaufmann
    • 2
  1. 1.University Medical CenterUniversity of California, San DiegoSan DiegoUSA
  2. 2.Institut für Anatomie der Medizinischen FakultätRheinisch-Westfälische Technische Hochschule AachenAachenGermany

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