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Prenatal diagnosis and genetic counseling of mucopolysaccharidosis type II (Hunter syndrome)

Publication year
2007
Author(s)
Chen, C. P.; Lin, S. P.; Tzen, C. Y.; Hwu, W. L.; Chern, S. R.; Chuang, C. K.; Chiang, S. S.; Wang, W.
Pages
49-56
Volume
18
Number
1

We present prenatal diagnosis of mucopolysaccharidosis type II (MPS II) (Hunter syndrome) and demonstrate marked mucopolysaccharide deposition in multiple vital organs in a 22-gestational-week affected fetus. Level II ultrasound showed cardiomegaly and hepatomegaly. Histological examinations of the fetal vital organs manifested marked mucopolysaccharide deposition. We suggest that any therapeutic approach and counseling for prenatally diagnosed MPS II should consider the early signs of in utero marked mucopolysaccharide storage.

Research abstracts