In-utero diagnosis of mucopolysaccharidosis type VII in a fetus with an enlarged nuchal translucency
| Autor: | Wim J. Kleijer, Martinus F. Niermeijer, Ernst M. Schoonderwaldt, J. W. Wladimiroff, Frans J. Los, N. S. Den Hollander |
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| Rok vydání: | 2000 |
| Předmět: |
Fetus
medicine.medical_specialty Pediatrics Radiological and Ultrasound Technology business.industry Mucopolysaccharidosis Sly syndrome Obstetrics and Gynecology Prenatal diagnosis General Medicine medicine.disease Endocrinology Reproductive Medicine Internal medicine Hydrops fetalis medicine Lysosomal storage disease Radiology Nuclear Medicine and imaging Family history business Increased nuchal translucency |
| Zdroj: | Ultrasound in Obstetrics and Gynecology. 16:87-90 |
| ISSN: | 0960-7692 |
| DOI: | 10.1046/j.1469-0705.2000.00148.x |
| Popis: | 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 autosomal recessive lysosomal storage disease, caused by the deficiency of the enzyme β-glucuronidase. The most severe form of MPS VII manifests itself by non-immune fetal hydrops. Tests for the diagnosis of metabolic disorders, especially lysosomal diseases, are essential when the major causes of hydrops fetalis have been excluded. The presence of a β-glucosidase deficiency, Gaucher's disease, in the infant of the patient's sister emphasizes the importance of a complete family history in consanguineous couples and the risk for several recessive diseases in some families. |
| Databáze: | OpenAIRE |
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