Y. Cheng, M. S. Verp, T. Knutel, J. U. Hibbard
Mucopolysaccharidosis type VII as a cause of recurrent non-immune hydrops fetalis
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.
Case: 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
?-glucuronidase deficiency which is pathognomonic for
MPS VII. Prenatal diagnosis was then performed in subsequent
pregnancies.
Conclusion: The importance of an extensive and thorough
investigation for the etiology of hydrops fetalis is
discussed.
Journal of Perinatal Medicine, Walter de Gruyter
Print ISSN: 1619-3997
Volume: 31, 11/2003
Pages: 535 - 537
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