[Refsum's syndrome (author's transl)]

Area of Science:

• Biochemistry
• Genetics
• Neurology

Background:

• Refsum's syndrome is an autosomal recessive lipidosis.
• It is characterized by a buildup of phytanic acid due to impaired degradation.
• Clinical manifestations include polyneuropathy, ataxia, retinitis pigmentosa, and ichthyosis.

Observation:

• A patient presented with clinical, chemical, neurophysiological, and histological findings consistent with Refsum's syndrome.
• Elevated phytanic acid levels were detected in blood, CSF, and tissues.
• The patient exhibited peripheral hypertrophic polyneuropathy, cerebellar ataxia, retinitis pigmentosa, anosmia, hearing loss, skeletal anomalies, and ichthyotic skin changes.

Findings:

• Biochemical analysis revealed an atypical increase of phytanic acid.
• The metabolic defect stems from a disturbance in exogenous phytanic acid degradation.
• A low phytol- and phytanic-acid diet led to a significant decrease in serum phytanic acid.

Implications:

• Dietary intervention can effectively manage phytanic acid levels in Refsum's syndrome.
• This case highlights the importance of early diagnosis and metabolic management.
• Further research into phytanic acid metabolism could reveal new therapeutic targets.