Pathologic findings in fetal GM1 gangliosidosis. 1986

F R Bieber, and G Mortimer, and E H Kolodny, and S G Driscoll

A 24-week fetus with GM1 gangliosidosis (type 1) was studied using biochemical and histopathologic methods. Foam cells in viscera and placenta demonstrated widespread accumulation of a lipidlike material. By microscopy, central nervous system storage appeared confined to the retina and dorsal root ganglia, but the brain ganglioside content was measurably elevated compared with that of age-matched controls. These data, along with those of others, imply that, if the observed pathologic findings are irreversible, any attempts at intrauterine therapy must commence prior to the middle of the second trimester.

UI MeSH Term Description Entries
D007668 Kidney Body organ that filters blood for the secretion of URINE and that regulates ion concentrations. Kidneys
D011247 Pregnancy The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH. Gestation,Pregnancies
D001921 Brain The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM. Encephalon
D005260 Female Females
D005315 Fetal Diseases Pathophysiological conditions of the FETUS in the UTERUS. Some fetal diseases may be treated with FETAL THERAPIES. Embryopathies,Disease, Fetal,Diseases, Fetal,Embryopathy,Fetal Disease
D005677 G(M1) Ganglioside A specific monosialoganglioside that accumulates abnormally within the nervous system due to a deficiency of GM1-b-galactosidase, resulting in GM1 gangliosidosis. GM1 Ganglioside,Monosialosyl Tetraglycosyl Ceramide,GM1a Monosialoganglioside,Ceramide, Monosialosyl Tetraglycosyl,Ganglioside, GM1,Monosialoganglioside, GM1a,Tetraglycosyl Ceramide, Monosialosyl
D005733 Gangliosidoses A group of autosomal recessive lysosomal storage disorders marked by the accumulation of GANGLIOSIDES. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the LYSOSOMES. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway. Ganglioside Storage Diseases,Ganglioside Storage Disorders,Gangliosidosis,Ganglioside Storage Disease,Ganglioside Storage Disorder,Storage Disease, Ganglioside,Storage Diseases, Ganglioside,Storage Disorder, Ganglioside,Storage Disorders, Ganglioside
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000028 Abortion, Induced Intentional removal of a fetus from the uterus by any of a number of techniques. (POPLINE, 1978) Embryotomy,Abortion (Induced),Abortion Failure,Abortion History,Abortion Rate,Abortion Technics,Abortion Techniques,Abortion, Drug-Induced,Abortion, Rivanol,Abortion, Saline-Solution,Abortion, Soap-Solution,Anti-Abortion Groups,Fertility Control, Postconception,Induced Abortion,Previous Abortion,Abortion Failures,Abortion Histories,Abortion Rates,Abortion Technic,Abortion Technique,Abortion, Drug Induced,Abortion, Previous,Abortion, Saline Solution,Abortion, Soap Solution,Abortions (Induced),Abortions, Drug-Induced,Abortions, Induced,Abortions, Previous,Abortions, Rivanol,Abortions, Saline-Solution,Abortions, Soap-Solution,Anti Abortion Groups,Anti-Abortion Group,Drug-Induced Abortion,Drug-Induced Abortions,Embryotomies,Failure, Abortion,Failures, Abortion,Group, Anti-Abortion,Groups, Anti-Abortion,Histories, Abortion,History, Abortion,Induced Abortions,Postconception Fertility Control,Previous Abortions,Rate, Abortion,Rates, Abortion,Rivanol Abortion,Rivanol Abortions,Saline-Solution Abortion,Saline-Solution Abortions,Soap-Solution Abortion,Soap-Solution Abortions,Technic, Abortion,Technics, Abortion,Technique, Abortion,Techniques, Abortion
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults

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