[Fetal pathology in Fabry's disease and mucopolysaccharidosis type I]. / Fetální patologie Fabryho nemoci a mukopolysacharidózy I.

Fetal Fabry disease (defect of alfa galactosidase) and mucopolysaccharidosis I (defect of alfa iduronidase, family with IH phenotype) were diagnosed by biochemistry in two risk gravidities subsequently interrupted according to mother's demand. Fetus with Fabry disease (gestation age 19 weeks) had rudimentary storage in kidney and myenteric plexuses cells, cardiocytes were normal. Biopsy of chorionic villi showed a bit more conspicuous storage in single trophoblastic elements. Much more striking storage was observed in MPS I (gestational age 14-15 weeks) especially in liver (hepatocytes and sinus cells), spleen (sinus endothelial cells and pulp macrophages) and fibroblasts of skin and placenta. Skin peripheral nerves and cerebral cortical gangliocytes did not show any lysosomal storage. Different manifestation of storage in fetal age may reflex the speed of lysosomal storage development in both lysosomal enzymopathies.

Corneal findings in a foetus with Fabry's disease.

The cornea of a 22-week foetus with Fabry's disease was examined biochemically and histopathologically. The alpha-galactosidase activity in the cornea was very low compared with that of the normal control. Histopathologic examination revealed that intracytoplasmic lamellar bodies surrounded by a single membrane were present in the epithelial cells. The lamellar bodies were thought to result from the abnormal accumulation of ceramide trihexoside. We conclude that ceramide trihexoside already has begun to accumulate progressively in the epithelial cells in the mid-trimester of gestation.