Fabry disease complicating pregnancy.
Obstetrics and Gynecology
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
Fabry Disease, Female, Humans, Infant, Newborn, Placenta, Pregnancy, Pregnancy Complications, Term Birth
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.
Parent, Emily; Wax, Joseph R; Smith, Wendy; Blaszyk, Hagen; Pinette, Michael G; Cartin, Angelina; and Blackstone, Jacquelyn, "Fabry disease complicating pregnancy." (2010). Maine Medical Center. 2130.