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

Karolina M. Stepien, Anthony S. Wierzbicki, Bwee T. Poll-The, Hans R. Waterham, Christian J. Hendriksz

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2 Citations (Scopus)


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 were remained well controlled: 177 and 188 μmol/L in the first and second trimester, respectively. Peri-partum management required a coordinated team approach including a high-calorie and restricted diet to reduce the risk of acute metabolic decompensation. During the induced labour she required 10% dextrose infusions.Post-partum it took the mother a long time to recover from childbirth - her appetite was poor due to post-natal depression and her body weight decreased rapidly by 11 kg within 3 weeks after childbirth, resulting in a spike in phytanic acid to 366 μmol/L. Measures were taken to minimise the risk of acute neurological decompensation. The infant was unaffected and has made normal developmental progress in the subsequent 2 years
Original languageEnglish
Pages (from-to)49-53
Early online date2016
Publication statusPublished - 2017

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