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mucopolysaccharidosis vii/edema
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Pagina 1 a partire dal 41 risultati
Postmortem observations on beta-glucuronidase deficiency presenting as hydrops fetalis.
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This study reports a case of type VII mucopolysaccharidosis (beta-glucuronidase deficiency) presenting as lethal hydrops fetalis. Skin fibroblast cultures established postmortem revealed deficient beta-glucuronidase activity. Mucopolysaccharides were stored in various cells of the brain, heart,
Beta-glucuronidase deficiency as a cause of prenatally diagnosed non-immune hydrops fetalis.
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We describe a case of beta-glucuronidase deficiency presenting as a non-immune hydrops fetalis diagnosed at 26 weeks of gestation. The deficiency was disclosed on cultured amniotic fluid cells and in fetal plasma and was confirmed post-abortion. In a second pregnancy, a normal beta-glucuronidase
beta-Glucuronidase deficiency as a cause of fetal hydrops.
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Mucopolysaccharidosis type VII (MPS VII) was diagnosed in a case of severe fetal hydrops. beta-glucuronidase deficiency was demonstrated in the amniotic fluid, which was obtained at 25 weeks of gestation, and in the fibroblasts of the child, which were cultured after fetal death in the 26th week of
Beta-glucuronidase deficiency as cause of recurrent hydrops fetalis: the first early prenatal diagnosis by chorionic villus sampling.
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We describe a patient with recurrent non-immune hydrops fetalis diagnosed as mucopolysaccharidosis type VII. This rare autosomal recessive disorder is caused by a beta-glucuronidase deficiency. Chorionic villus sampling was performed in the 11th week of the subsequent pregnancy and
Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII.
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Although not all mucopolysaccharidosis type VII (MPS VII) neonates present with hydrops fetalis or with related symptoms, hydrops fetalis is a common form of presentation of this mucopolysaccharidosis. We used reverse-transcription-PCR-SSCP and direct sequencing to screen for mutations in the human
Molecular analysis of a patient with hydrops fetalis caused by beta-glucuronidase deficiency, and evidence for additional pseudogenes.
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A patient with hydrops fetalis caused by beta-glucuronidase deficiency was found to be homozygous for a C to T transition at nucleotide position 672 in his cDNA. Genomic analysis showed the presence of pseudogenes for the beta-glucuronidase gene. After separation of PCR products of the gene and the
Non-immune hydrops fetalis caused by beta-glucuronidase deficiency (mucopolysaccharidosis VII). Study of a family with 3 affected siblings.
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Non-immune hydrops fetalis caused by beta-glucuronidase deficiency (mucopolysaccharidosis VII). Study of a family with 3 affected siblings. We describe a family case of beta-glucuronidase deficiency with 3 consecutively affected siblings. The three fetuses showed hydrops at a very early stage. In
Mucopolysaccharidosis type VII as a cause of recurrent non-immune hydrops fetalis.
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BACKGROUND
Mucopolysaccharidosis type VII (MPS VII) is a rare lysosomal storage disease first described by Sly in 1973. There are fewer than thirty reported cases world wide. This extremely rare disorder can present in-utero as hydrops fetalis and has a high recurrence rate. However, prenatal
Mucopolysaccharidosis type VII associated with hydrops fetalis: histopathological and ultrastructural features with genetic implications.
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A case of mucopolysaccharidosis type VII (MPS VII, beta glucuronidase deficiency) causing fatal hydrops fetalis in the third trimester is presented. The diagnosis was suspected on histopathological examination by the presence of foam cells in many of the viscera and foamy change in the placental
Mucopolysaccharidosis VII as cause of fetal hydrops in early pregnancy.
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We report on fetal hydrops presenting at 18 weeks of gestation and diagnosed as beta-glucuronidase deficiency. The parents were first cousins and there were 2 previous similar fetal deaths. beta-Glucuronidase was absent in cultured fetal fibroblasts and lymphoblasts but was normal in the tested
Foamy changes of placental cells in probable beta glucuronidase deficiency associated with hydrops fetalis.
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Mucopolysaccharidosis type VII (MPS VII, beta glucuronidase deficiency) has been described in association with non-immune hydrops fetalis. Three consecutive pregnancies in an itinerant family, which resulted in stillbirths caused by non-immune hydrops are described. The parents were closely related
Association between mucopolysaccharidosis Type VII and hydrops fetalis.
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Hydrops Fetalis (HF) is a serious pregnancy complication defined by edema in two or more fetal compartments, typically in the first or second trimesters. Nearly 90% of cases are attributed to non-immune causes (NIHF) and include a wide number of pathologies: cardiac abnormalities, chromosomal
Mutational studies in a patient with the hydrops fetalis form of mucopolysaccharidosis type VII.
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Four prior mutations have been reported in three patients with beta-glucuronidase deficiency mucopolysaccharidosis (MPS VII), none of whom had the severe, infantile, hydropic form of the disease. We identified two mutations in the first reported case of nonimmune hydropic MPS VII whose cultured
A new case of mucopolysaccharidosis VII presenting as non immune hydrops fetalis.
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Mucopolysaccharidosis VII (Sly disease) as a cause of increased nuchal translucency and non-immune fetal hydrops: study of a family and technical approach to prenatal diagnosis in early and late pregnancy.
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