[Acute infantile cerebral form of Gaucher disease].
A foetus causing attention by disharmonic growth retardation and suspected CTG, died within the 34th week of gestation. The infantile cerebral form (type II) of Gaucher's disease was detected by histological examination. In another pregnancy a second afflicted child was discovered by decreased cerebroside-beta-glucosidase activity in amniotic fluid cells. Abortion was therefore induced.
Süss
J
J
Frauenklinik, Marienkrankenhaus Amberg/Opf., Lehrkrankenhaus, Universität Erlangen-Nürnberg.
D000025:Abortion, Eugenic; D000328:Adult; D001928:Brain Diseases, Metabolic / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D005317:Fetal Growth Retardation / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D005776:Gaucher Disease / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D005817:Genetic Counseling; D005962:Glucosylceramidase / Q000172:deficiency / Q000235:genetics; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis
D005962:Glucosylceramidase
Akut infantil-zerebrale Form des Morbus Gaucher.