| A Child With Night Blindness: Preventing Serious Symptoms of Refsum Disease. | |
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MedLine Citation:
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PMID: 22156782 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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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. |
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Authors:
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Alfried Kohlschütter; René Santer; Zoltan Lukacs; Christiane Altenburg; Markus J Kemper; Klaus Rüther |
Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-12-7 |
Journal Detail:
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Title: Journal of child neurology Volume: - ISSN: 1708-8283 ISO Abbreviation: - Publication Date: 2011 Dec |
Date Detail:
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Created Date: 2011-12-13 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8606714 Medline TA: J Child Neurol Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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Clinic for Degenerative Brain Diseases, Children's Hospital, University Medical Center Eppendorf, Hamburg, Germany. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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