The Challenges of a Successful Pregnancy in a Patient with Adult Refsum's Disease due to Phytanoyl-CoA Hydroxylase Deficiency.

ABSTRACT: We describe the management and outcomes of pregnancy in a 27-year-old woman with infantile-onset Adult Refsum's disease (ARD). She presented in infancy but was diagnosed with ARD at the age of 10 on basis of phytanic acidaemia and later confirmed to have the phytanoyl-CoA hydroxylase ((PHYH) c.164delT, p.L55fsX12) mutation. Despite repeated plasmapheresis sessions and strict dietary surveillance for 20 years, her phytanic acid levels persistently stayed above the ideal target level of 100 μmol/L but remained below 400 μmol/L. Initially the pregnancy was uncomplicated but in the third trimester of pregnancy the patient was admitted to the hospital with fluctuating hypertension, sinus tachycardia and breathlessness. The patient was compliant with diet during pregnancy and her phytanic levels

SUBMITTER: Stepien KM 

PROVIDER: S-EPMC5413453 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature