In-utero diagnosis of mucopolysaccharidosis type VII in a fetus with an enlarged nuchal translucency.
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 beta-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 beta-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.
den Hollander
N S
NS
Department of Obstetrics & Gynaecology, University Hospital Rotterdam, The Netherlands.
Kleijer
W J
WJ
Schoonderwaldt
E M
EM
Los
F J
FJ
Wladimiroff
J W
JW
Niermeijer
M F
MF
D000328:Adult; D003241:Consanguinity; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging*; D006801:Humans; D016538:Mucopolysaccharidosis VII / Q000000981:diagnostic imaging*; D009333:Neck / Q000000981:diagnostic imaging*; D011247:Pregnancy; D016216:Ultrasonography, Prenatal