Abstract

INTRODUCTION:

Type 1 Gaucher's disease (GD1) is a lysosomal storage disorder associated with disabling bone involvement. The choice treatment for Gaucher's disease is enzyme replacement therapy (ERT). The use of bisphosphonate treatment for osteopenia and osteoporosis has been suggested.

CASE:

A 22-year-old woman diagnosed with GD1 had received ERT intermittently, depending on availability of the enzyme since the enzyme was not always available. Due to severe bone involvement and multiple vertebral fractures, intravenous administration of 60 mg of pamidronate every 3 months and safe contraception were indicated. Fifteen days after receiving the fourth infusion, the patient informed us she was pregnant. A baby girl was born by cesarean delivery at week 37, showing no evidence of skeletal abnormality or clinical signs of hypocalcemia. The baby developed normally, presenting no significant pathology. At present (age 15 months), height, body weight, and bone mineral density by DXA are within normal range. The mother showed stable total skeleton and right femoral neck bone mineral density (BMD) values, no new fractures, and only ~3% decrease in lumbar spine BMD 15 months post-delivery and after a 1 year breastfeeding period (expected average ~7-8%).

CONCLUSION:

It could be posited that pamidronate exerted a positive protective effect on the mother's skeleton with no evidence of adverse effects on pregnancy or on the baby's health to date.