Fetal Storage Disorders

  • Kurt Benirschke
  • Peter Kaufmann


Fetal storage disorders such as Gaucher’s disease, as mentioned in Chapter 18, may cause fetal hydrops. In the case described by Ginsburg and Groll (1973), polyhydramnios complicated the second pregnancy of a patient during the second trimester. At 34 weeks she delivered a macerated, hydropic fetus. The large, edematous placenta had macroscopic features of erythroblastosis fetalis. The mother’s third pregnancy also resulted in neonatal demise due to Gaucher’s disease. The fetal findings were characteristic of type II Gaucher’s disease in the hydropic, 21-week fetus described by Rice et al. (1984). The placenta was not described.


Glycogen Storage Disease Type Mucolipidosis Type Hydropic Fetus Zebra Body Sialic Acid Storage Disease 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. Abe, K., Matsuda, I., Arashima, S., Mitsuyama, T., Oka, Y., and Ishikawa, M.: Ultrastructural studies in fetal I-cell disease. Pediatr. Res. 10:669–676, 1976.PubMedCrossRefGoogle Scholar
  2. Applegarth, D.A., Toone, J.R., Wilson, R.D., Long, S.L., and Baldwin, V.J.: Morquio disease presenting as hydrops fetalis and enzyme analysis of chorionic villus tissue in a subsequent pregnancy. Pediatr. Pathol. 7:593–599, 1987.PubMedCrossRefGoogle Scholar
  3. Aula, P., Rapola, J., Autio, S., Raivio, K., and Karjalai-nen, O.: Prenatal diagnosis and fetal pathology of I-cell disease (mucolipidosis type II). J. Pediatr. 87:221–226, 1975.PubMedCrossRefGoogle Scholar
  4. Aylsworth, A.S., Thomas, G.H., Hood, J.L., Malouf, N., and Libert, J.: A severe infantile sialidosis: clinical, biochemical, and microscopic features. J. Pediatr. 96:662–668, 1980.PubMedCrossRefGoogle Scholar
  5. Baker, H.J., Mole, J. A., Lindsey, J.R., and Creel, R.M.: Animal models of human ganglioside storage diseases. Fed. Proc. 35:1193–1201, 1976.PubMedGoogle Scholar
  6. Bendon, R.W., and Hug, G.: Morphologic characteristics of the placenta in glycogen storage disease type II (ß-l,4-glucosidasedeficiency). Am. J. Obstet. Gynecol. 152:1021–1026, 1985.PubMedGoogle Scholar
  7. Cozzutto, C. : Case report: foamy degeneration of placenta. Virchows Arch. [Pathol. Anat.] 401:363–368, 1983.CrossRefGoogle Scholar
  8. Desai, P.K., Astrin, K.H., Gordon, R.E., Thung, S., Strauss, L., and Desnick, R.J.: Cholesterol ester storage disease: prenatal diagnosis and fetal pathology. Lab. Invest. 52:4P, 1985.Google Scholar
  9. Gehler, J., Cantz, M., Stoeckenius, M., and Spranger, J. : Prenatal diagnosis of mucolipidosis II (I-cell disease). Eur. J. Pediatr. 122:201–206, 1976.PubMedCrossRefGoogle Scholar
  10. Gellis, S.S., and Feingold, M.: Picture of the month. I-cell disease (mucolipidosis II). Am. J. Dis. Child. 131: 1137–1138, 1977.Google Scholar
  11. Ginsburg, S.J., and Groll, M.: Hydrops fetalis due to infantile Gaucher’s disease. J. Pediatr. 82:1046–1048, 1973.PubMedCrossRefGoogle Scholar
  12. Giugliani, R., Dutra, J.C., Pereira, M.L.S., Rotta, N., Drachler, M.d.L., Ohlweiler, L., Neto, J.M.d.P., Pin-heiro, C.E., and Breda, D.J.: GMi gangliosidosis: clinical and laboratory findings in eight families. Hum. Genet. 70:347–354, 1985.PubMedCrossRefGoogle Scholar
  13. Granström, M.-L., Aula, P., and Rapola, J.: Kliinis-patologinen kokousselostus XY: Kudosviljelyn avulla selvitetty aineenvaihduntasairaus. Duodecim 90: 421–430,1974.PubMedGoogle Scholar
  14. Hanai, J., Leroy, J., and O’Brien, J.S.: Ultrastructure of cultured fibroblasts in I-cell disease. Am. J. Dis. Child. 122:34–38, 1971.PubMedGoogle Scholar
  15. Herd, J.K., Dvorak, A.D., Wiltse, H.E., Eisen, J.D., Kress, B.C., and Miller, A.L.: Mucolipidosis type II: multiple elevated serum and urine enzyme activities. Am. J. Dis. Child. 132:1181–1186, 1978.PubMedGoogle Scholar
  16. Hug, G., Bove, K.E., Soukup, S., Ryan, M., Bendon, R., Babcock, D., Warren, N.S., and Dignan, P.S.J. : Increased serum hexosaminidase in a woman pregnant with a fetus affected by mucolipidosis II (I-cell disease). New Engl. J. Med. 311:988–989, 1984.Google Scholar
  17. Kleijer, W.J., Hoogeveen, A., Verheijen, F.W., Nier-meijer, M.F., Galjaard, H., O’Brien, J.S., and Warner, T.G.: Prenatal diagnosis of sialidosis with combined neuraminidase and ß-galactosidase deficiency. Clin. Genet. 16:60–61, 1979.PubMedCrossRefGoogle Scholar
  18. Kohn, G., Livni, N., Ornoy, A., Sekeles, E., Beyth, Y., Legum, C., Bach, G., and Cohen, M.M.: Prenatal diagnosis of mucolipidosis IV by electron microscopy. J. Pediatr. 90:62–66, 1977.PubMedCrossRefGoogle Scholar
  19. Laver, J., Fried, K., Beer, S.I., Iancu, T.C., Heyman, E., Bach, G., and Zeiger, M.: Infantile lethal neuraminidase deficiency (sialidosis). Clin. Genet. 23: 97–101, 1983.PubMedCrossRefGoogle Scholar
  20. Lowden, J.A., Cutz, E., Conen, P.E., Rudd, N., and Doran, T.A.: Prenatal diagnosis of GMl-gangliosido-sis. New Engl. J. Med. 288:225–228, 1973.Google Scholar
  21. Maroteaux, P., Humbel, R., Strecker, G., Michalski, J.-C., and Mande, R.: Un nouveau type de sialidose avec atteinte renale: La nephrosialidose. Arch. Fr. Pédiatr. 35:819–829, 1978.PubMedGoogle Scholar
  22. Nagashima, K., Sakakibara, K., Endo, H., Konishi, Y., Nakamura, N., Suzuki, Y., and Abe, T.: I-cell disease (mucolipidosis II): pathological and biochemical studies of an autopsy case. Acta Pathol. Jpn. 27: 251–264, 1977.PubMedGoogle Scholar
  23. O’Brien, J.F.: The lysosomal storage diseases. Mayo Clin. Proc. 57:192–197, 1982.PubMedGoogle Scholar
  24. Popli, S., Leehey, D.J., Molnar, Z.V., Nawab, Z.M., and Ing, T.S.: Demonstration of Fabry’s disease deposits in placenta. Am. J. Obstetr. Gynecol. 162: 464–465, 1990.CrossRefGoogle Scholar
  25. Powell, H.C., Benirschke, K., Favara, B.E., and Pflue-ger, O.H.: Foamy changes of placental cells in fetal storage disorders. Virchows Arch. [A] 369:191–196, 1976.Google Scholar
  26. Rapola, J., and Aula, P.: Morphology of the placenta in fetal I-cell disease. Clin. Genet. 11:107–113, 1977.PubMedCrossRefGoogle Scholar
  27. Rapola, J., Autio, S., Aula, P., and Nanto, V.: Lymphocytic inclusions in I-cell disease. J. Pediatr. 85:88–90,1974.PubMedCrossRefGoogle Scholar
  28. Rice, G.E., Mostoufi-Zadeh, M., and Driscoll, S.G.: Hydrops fetalis in Gaucher’s disease. Teratology 29: 53A–54A, 1984.Google Scholar
  29. See, G.L., Stanescu, R., and Lyon, G.: Un nouveau type de sialidose avec atteinte renale: la nephrosialidose. Arch. Fr. Pédiatr. 35:830–844, 1978.Google Scholar
  30. Stevenson, R.E., Lubinsky, M., Taylor, H.A., Wenger, D.A., Schroer, R.J., and Olmstead, P.M.: Sialic acid storage disease with sialuria: clinical and biochemical features in the severe infantile type. Pediatrics 72: 441–449, 1983.PubMedGoogle Scholar
  31. Terashima, Y., Tsuda, K., Isomura, S., Sugiura, Y., and Nogami, H.: I-cell disease: report of three cases. Am. J. Dis. Child. 129:1083–1090, 1975.PubMedGoogle Scholar
  32. Vanier, M.T., Rousson, R.M., Mandon, G., Choiset, A., Lake, B.D., and Pentchev, P.G.: Diagnosis of Niemann-Pick disease type C on chorionic villus biopsy. Lancet 1:1014–1015, 1989.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media New York 1990

Authors and Affiliations

  • Kurt Benirschke
    • 1
    • 2
  • Peter Kaufmann
    • 3
  1. 1.Pathology and Reproductive MedicineUniversity of CaliforniaSan DiegoUSA
  2. 2.University Medical CenterSan DiegoUSA
  3. 3.Institut für Anatomie der Medizinischen Fakultät, Rheinisch-Westfälische TechnischeHochschule AachenAachenGermany

Personalised recommendations