In-utero diagnosis of mucopolysaccharidosis type VII in a fetus with an enlarged nuchal translucency
Ultrasound in Obstetrics and Gynecology , Volume 16 - Issue 1 p. 87- 90
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.