title: [Ultrastructural findings in 9 fetuses following prenatal diagnosis of neurolipidoses].
abstract: After positive prenatal enzymic diagnosis of different neurolipidoses therapeutic abortion was carried out in the 19th to 25th week of pregnancy. Ten delivered fetuses were studied ultrastructurally and in nine of them positive results were obtained, although in some cases one had to accept relatively poor structural conservation of fetal tissues. The ultrastructure of the quantitatively small lipid storage effects qualitatively resembled that of the postnatal stages with some exceptions of localization. In fetal GM2-gangliosidosis type 2 (variant 0) concentric membranous cytoplasmic bodies were detected in the brain cortex. In Krabbe's disease the myelinated regions of the spinal cord showed scattered storage (globoid) cells, sometimes closely related to blood vessels, which contained isolated or stranded tubular or spicular inclusions. In GM1-gangliosidosis type 1 neurons of the brain stem showed lamellar inclusions structured as zebra bodies, and splenic histiocytes exhibited numerous almost clear cytoplasmic vacuoles. In fetal metachromatic leukodystrophy the CNS including myelinated regions was essentially free of morphologic lipid storage effects. However, many kidney tubules cells contained great numbers of irregular or roughly parallel stacks of membranes. These inclusions may be equivalent to "tuffstone" bodies. In one fetus the bodies were restricted to tubular cells bearing microvilli. Fluorescent microscopy of arcus of the kidney tubule showed excess amounts of metachromatic material. Less of this material was demonstrable in the envelope layer of hepatic Glisson triangles. In the fetus with Niemann-Pick disease type C large neurons of the basal ganglia and the spinal cord were filled with membranous inclusions that were similar to myelin-shaped bodies rather than to solid membraneous bodies. The 19-weeks-old fetus with enzymically proven Gaucher disease was free of ultrastructural lipid storage effects. Most but not all of the morphological findings in the fetuses with neurolipidoses were in accordance with published results.
mesh_terms: D000328:Adult; D001921:Brain / Q000473:pathology; D001928:Brain Diseases, Metabolic / Q000235:genetics / Q000473:pathology*; D005260:Female; D005733:Gangliosidoses / Q000473:pathology; D005736:Gardner Syndrome / Q000473:pathology; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D007965:Leukodystrophy, Globoid Cell / Q000473:pathology; D007966:Leukodystrophy, Metachromatic / Q000473:pathology; D008064:Lipidoses / Q000235:genetics / Q000473:pathology*; D008099:Liver / Q000473:pathology; D009186:Myelin Sheath / Q000648:ultrastructure; D009474:Neurons / Q000648:ultrastructure; D009542:Niemann-Pick Diseases / Q000473:pathology; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013116:Spinal Cord / Q000473:pathology
vernacular_title: Ultrastrukturelle Befunde bei 9 Feten nach pränataler Diagnose von Neurolipidosen.