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Biomedical subjects

M Cantz

Publications and source records attributed to M Cantz.

76 records · Page 5Linked to original sources
PubMedDate not supplied

Prenatal diagnosis and confirmation of infantile sialic acid storage disease.

Amniocentesis was performed in a pregnancy at risk for infantile sialic acid storage disease. Greatly elevated levels of free sialic acid were found in cell-free amniotic fluid as well as in cultured amniotic cells from the fetus at risk. After incubation of the cultured amniocytes with fetuin labelled in its sialic acid moiety, pulse and chase experiments respectively showed accumulation and impaired release of TCA-soluble radioactive material in the amniotic cells at risk. These data thus clearly indicated that the fetus was affected. After pregnancy termination, ultrastructural studies of fetal organs and placenta showed a generalized storage picture characterized by clear membrane-bound inclusions. The diagnosis was further confirmed by the finding of greatly increased amounts of free sialic acid in fetal organs and cultured fibroblasts.

Amniocentesis↗
PubMedDate not supplied

Nonimmune hydrops fetalis with galactosialidosis: consequences for family planning.

At the 28th week of gestation a hydrops fetalis was first detected by ultrasound. At birth a generalized hydrops with Hurler-like craniofacial dysmorphism, hepatosplenomegaly and a moderate dystostosis multiplex was noted. High urinary excretion of oligosaccharides and a severe deficiency of neuraminidase and of beta-galactosidase in cultured skin fibroblasts could be found. Thus, a rare early infantile type of galactosialidosis was diagnosed. The patient died at the age of 3 months because of cardiac failure. The consanguineous but otherwise healthy parents received genetic counselling for further pregnancies and have been informed about the possibility of prenatal diagnosis. In view of this possibility, the parents decided to have more children. In the second pregnancy a severe combined enzyme deficiency had been detected and the pregnancy interrupted. In the third pregnancy prenatal diagnosis revealed normal fetal enzyme activities. It resulted in a healthy female child and in the fourth pregnancy reduced but still in the heterozygote level enzyme activities had been found, a healthy boy was born.

Family Planning Services↗