In:
Journal of Child Neurology, SAGE Publications, Vol. 27, No. 5 ( 2012-05), p. 654-656
Abstract:
Refsum disease is a genetic progressive neurological disorder caused by neurotoxic phytanic acid, a nutritional component patients are unable to metabolize. Symptoms include retinopathy, polyneuropathy, ataxia, and deafness. They are variable and rarely recognized before adulthood. The authors report the case of a 14-year-old girl diagnosed because of night blindness. They treated her with a phytanic acid–poor diet and extracorporeal lipid apheresis. They used different methods over a 30-month period. Thereafter, the patient was treated with diet only. Membrane filtration and heparin-induced extracorporeal low-density lipoprotein precipitation apheresis were well tolerated. Withdrawal of phytanic acid was studied quantitatively. During a 5-year period, blood phytanic acid levels decreased to a noncritical range. The patient remained free of ophthalmological and neurological progression for a total observation of 12 years. Early diagnosis and effective measures to keep the phytanic acid load low can probably prevent the serious sequelae of Refsum disease. Developing a method for newborn screening is desirable.
Type of Medium:
Online Resource
ISSN:
0883-0738
,
1708-8283
DOI:
10.1177/0883073811424799
Language:
English
Publisher:
SAGE Publications
Publication Date:
2012
detail.hit.zdb_id:
2068710-2
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