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A child with night blindness: preventing serious symptoms of Refsum disease

Alfried Kohlschütter1, René Santer, Zoltan Lukacs

  • 1Clinic for Degenerative Brain Diseases, Children's Hospital, University Medical Center Eppendorf, Hamburg, Germany. kohlschuetter@uke.uni-hamburg.de

Journal of Child Neurology
|December 14, 2011
PubMed

Insights

Early diagnosis and dietary management of Refsum disease (a genetic neurological disorder) can prevent severe symptoms. Treatment involving a phytanic acid-poor diet and apheresis effectively lowered blood levels.

Area of Science:

  • Genetics
  • Neurology
  • Metabolic Disorders

Background:

  • Refsum disease is a rare genetic neurological disorder characterized by the inability to metabolize phytanic acid.
  • Accumulation of phytanic acid leads to progressive symptoms including retinopathy, polyneuropathy, ataxia, and deafness, often diagnosed in adulthood.

Observation:

  • A 14-year-old girl with Refsum disease was diagnosed due to night blindness.
  • She underwent treatment with a phytanic acid-poor diet and various extracorporeal lipid apheresis methods over 30 months.
  • Following apheresis, she continued with dietary management alone.

Findings:

  • Both membrane filtration and heparin-induced extracorporeal low-density lipoprotein precipitation apheresis were well-tolerated.
  • Phytanic acid withdrawal was monitored, and blood levels decreased to a noncritical range within 5 years.
  • The patient showed no ophthalmological or neurological progression over a 12-year observation period.

Implications:

  • Early diagnosis and consistent management of phytanic acid levels are crucial for preventing severe sequelae of Refsum disease.
  • Effective treatment strategies, including diet and apheresis, can halt disease progression.
  • Developing newborn screening methods for Refsum disease is highly desirable for timely intervention.

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