Journal of perinatal medicine · 2003
Mucopolysaccharidosis type VII as a cause of recurrent non-immune hydrops fetalis.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Cheng Yvonne, Verp Marion S, Knutel Terri, Hibbard Judith U
Аннотация
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 beta-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.
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 beta-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.