Recurrent Fetal Hydrops due to Mucopolysaccharidoses Type VII

• Published in: Fetal diagnosis and therapy Vol. 21; no. 3; pp. 250 - 254
• Main Authors: Venkat-Raman, Narayanaswamy, Sebire, Neil J., Murphy, Karl W.
• Format: Journal Article
• Language: English
• Published: Basel, Switzerland Karger 01.01.2006; S. Karger AG
• Subjects: Abdomen - diagnostic imaging; Abdomen - embryology; Adult; Ascites; Biological and medical sciences; Consanguinity; Diseases of mother, fetus and pregnancy; Female; Gestational Age; Gynecology. Andrology. Obstetrics; Humans; Hydrops Fetalis - diagnostic imaging; Hydrops Fetalis - etiology; Management. Prenatal diagnosis; Medical sciences; Mucopolysaccharidosis VII - complications; Mucopolysaccharidosis VII - diagnosis; Nuchal Translucency Measurement; Pregnancy; Pregnancy. Fetus. Placenta; Recurrence; Ultrasonography, Prenatal; β-Glucuronidase; Sly syndrome; Mucopolysaccharidoses; Fetal hydrops; Human; Relapse; Pregnancy disorders; Enzyme; Prenatal Diagnosis; Diseases of the osteoarticular system; Metabolic diseases; Enzymopathy; Genetic disease; Case study; Fetal diseases; Hydrops fetalis; Glycosidases; Mucopolysaccharidosis Sly; Hydrolases; O-Glycosidases
• ISSN: 1015-3837; 1421-9964
• DOI: 10.1159/000091350

Hydrops fetalis is associated with a wide range of abnormalities. In about 20% of cases of non-immune fetal hydrops, no cause is found despite investigations including routine post-mortem examination and enzyme studies may be indicated to detect an underlying metabolic storage disease. Fetal hydrops due to mucopolysaccharidosis type VII is very rare and a prenatal diagnosis is not usually made. We report a case of mucopolysaccharidosis type VII presenting as recurrent fetal hydrops and review the clinico-pathological features of this disorder.