beta glucosidase/edema

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An autophagic vacuolar myopathy-like disorder presenting as nonimmune hydrops in a female fetus.

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A 37-year-old woman presented for routine obstetrical care at 15 weeks' gestational age and the fetus was found to have hydrops fetalis. Following elective termination of the pregnancy at 18 weeks' gestational age, pathologic examination of the female conceptus revealed findings suggestive of a

Intrauterine onset of acute neuropathic type 2 Gaucher disease: identification of a novel insertion sequence.

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A subset of patients with type 2 Gaucher disease is characterized by intrauterine onset of rapidly progressive neuropathic disease, arthrogryposis, hydrops fetalis and in some cases restrictive dermopathy. beta-Glucocerebrosidase (beta-glucosidase) activity is usually low or undetectable. In most

Prenatal diagnosis of Gaucher's disease type 2. Ultrasonographic, biochemical and histological aspects.

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We report on the early prenatal diagnosis of fetal Gaucher disease type 2 by ultrasound examination and beta-glucosidase activity assay on amniocytes from a fetus of 15 weeks' gestation whose first sibling fetus had previously been affected with hydrops fetalis. These cases emphasize the importance

In-utero diagnosis of mucopolysaccharidosis type VII in a fetus with an enlarged nuchal translucency.

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Mucopolysaccharidosis type VII was diagnosed prenatally during the first pregnancy of a Turkish consanguineous couple, following diagnostic work-up of an increased nuchal translucency detected by ultrasound at 13 weeks of gestation. Mucopolysaccharidosis type VII (MPS VII) or Sly syndrome is a rare

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