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 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.
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Acknowledgment
The authors would like to thank gynaecologists and obstetricians who looked after the patient during the perinatal period for their comments on the manuscript.
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Communicated by: Robert Steiner
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Synopsis
The challenges in the management of pregnancy in a patient with Adult Refsum’s disease.
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All authors performed the literature search. KS wrote the first draft of the manuscript and reviewed the literature, with AW, BTPT, HRW and CJH involved in revisions. All authors approved the final article.
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CJH is the guarantor.
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Article does not contain any studies with human or animal subjects performed by any of the authors.
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Stepien, K.M., Wierzbicki, A.S., Poll-The, B.T., Waterham, H.R., Hendriksz, C.J. (2016). The Challenges of a Successful Pregnancy in a Patient with Adult Refsum’s Disease due to Phytanoyl-CoA Hydroxylase Deficiency. In: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (eds) JIMD Reports, Volume 33. JIMD Reports, vol 33. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2016_569
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DOI: https://doi.org/10.1007/8904_2016_569
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