title: Mucopolysaccharidosis type VII as a cause of recurrent non-immune hydrops fetalis.
abstract: BACKGROUND
  Mucopolysaccharidosis type VII (MPS VII) is a rare lysosomal storage disease first described by Sly in 1973. There are fewer than thirty reported cases world wide. This extremely rare disorder can present in-utero as hydrops fetalis and has a high recurrence rate. However, prenatal diagnosis in the absence of a previously affected child, has not been reported to date.
  
  
  METHODS
  This is a case of a non-consanguineous couple, with no history of a previously affected child with MPS VII, presenting with recurrent hydrops fetalis. During the work-up, the affected fetus was diagnosed in-utero with beta-glucuronidase deficiency which is pathognomonic for MPS VII. Prenatal diagnosis was then performed in subsequent pregnancies.
  
  
  CONCLUSIONS
  The importance of an extensive and thorough investigation for the etiology of hydrops fetalis is discussed.
authors.affiliation: University of Chicago, Department of Obstetrics and Gynecology, Section of Maternal-Fetal Medicine, Chicago 60637, USA.
authors.forename: Yvonne
authors.initials: Y
authors.lastname: Cheng
authors.forename: Marion S
authors.initials: MS
authors.lastname: Verp
authors.forename: Terri
authors.initials: T
authors.lastname: Knutel
authors.forename: Judith U
authors.initials: JU
authors.lastname: Hibbard
mesh_terms: D000328:Adult; D005260:Female; D005313:Fetal Death / Q000209:etiology; D006580:Genetic Carrier Screening; D005865:Gestational Age; D006801:Humans; D015160:Hydrops Fetalis / Q000209:etiology*; D016538:Mucopolysaccharidosis VII / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D011247:Pregnancy; D011248:Pregnancy Complications; D016216:Ultrasonography, Prenatal