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A child with Refsum's disease: successful treatment with diet and plasma exchange
N Dickson1, J G Mortimer, J M Faed
1Dunedin Hospital, New Zealand.
Insights
Refsum disease in a child caused cardiac failure and muscle weakness. Treatment with plasma exchange and a low-phytanic acid diet reversed symptoms, showing dietary intervention
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Refsum disease is a rare genetic disorder.
- Phytanic acid accumulation causes severe symptoms.
Observation:
- A child presented with cardiac failure, muscle wasting, weakness, and incoordination.
- These symptoms are characteristic of advanced Refsum disease.
Findings:
- Treatment involved multiple plasma exchanges and dietary restriction of phytanic acid.
- This intervention reversed the disabling symptoms of Refsum disease.
- Phytanic acid levels decreased but remained above target values.
Implications:
- Early diagnosis and intervention are crucial for managing Refsum disease.
- Dietary modification, specifically reducing phytanic acid, is a key therapeutic strategy.
- Further research may optimize phytanic acid level targets and treatment protocols.
Abstract:
A child with Refsum's disease presented with cardiac failure, marked muscle wasting, weakness and inco-ordination. Management with multiple plasma exchanges and dietary restriction of phytanic acid intake has reversed the disabling features of the disease, although levels still remain higher than target values. Low phytanic acid intake is being achieved by restriction of total fat to 10 to 12 g/day, while allowing free amounts of fruit and green vegetables.