Fabry disease complicating pregnancy

Emily ParentDivision of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Maine Medical Center, Portland, ME, USA

, B.A.,

Joseph R. WaxDivision of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Maine Medical Center, Portland, ME, USACorrespondence[email protected]

Wendy SmithDivision of Genetics, Department of Pediatrics, Maine Medical Center, Portland, ME, USA

Hagen BlaszykDepartment of Pathology, Maine Medical Center, Portland, ME, USA

Michael G. PinetteDivision of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Maine Medical Center, Portland, ME, USA

Angelina CartinDivision of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Maine Medical Center, Portland, ME, USA

Jacquelyn BlackstoneDivision of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Maine Medical Center, Portland, ME, USA

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Abstract

Background. Few cases of Fabry disease, an X-linked lysosomal storage disorder, complicating pregnancy are reported.

Case. A 36-year-old primigravida with known Fabry disease manifest with acroparesthesias, tinnitus, and hearing loss delivered a healthy unaffected infant at term.

Conclusion. A symptomatic Fabry carrier may experience an otherwise uncomplicated pregnancy in the absence of vital organ involvement.

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Fabry disease complicating pregnancy

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Fabry disease complicating pregnancy

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