title: A child with night blindness: preventing serious symptoms of Refsum disease.
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.
authors.affiliation: Clinic for Degenerative Brain Diseases, Children's Hospital, University Medical Center Eppendorf, Hamburg, Germany. kohlschuetter@uke.uni-hamburg.de
authors.forename: Alfried
authors.initials: A
authors.lastname: Kohlschütter
authors.forename: René
authors.initials: R
authors.lastname: Santer
authors.forename: Zoltan
authors.initials: Z
authors.lastname: Lukacs
authors.forename: Christiane
authors.initials: C
authors.lastname: Altenburg
authors.forename: Markus J
authors.initials: MJ
authors.lastname: Kemper
authors.forename: Klaus
authors.initials: K
authors.lastname: Rüther
mesh_terms: D000293:Adolescent; D005260:Female; D006801:Humans; D008077:Lipoproteins, LDL / Q000008:administration & dosage*; D008137:Longitudinal Studies; D006899:Mixed Function Oxygenases / Q000235:genetics; D009154:Mutation / Q000235:genetics; D009755:Night Blindness / Q000178:diet therapy* / Q000209:etiology*; D010831:Phytanic Acid / Q000097:blood; D012035:Refsum Disease / Q000150:complications* / Q000517:prevention & control*
chemical_list: D008077:Lipoproteins, LDL; D010831:Phytanic Acid; D006899:Mixed Function Oxygenases; C102623:PHYH protein, human