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Is there any treatment for Refsum disease?

Q: I have a patient of Refsum's disease. The child is now 9 years old and she is on tab gardinal 60 mg (morning & evening), Tab Frizium-5 mg (morning & evening). She is getting repeated sudden involuntary movements like blinking of the eyes. I have stopped her green leafy vegetables and diary products to reduce ingestion of phytates. The child is getting repeated upper respiratory infection which often progress to pneumonia. Is there any better treatment, can anything else be done, what is the prognosis?

A:As you would be aware, there is no cure or standard course of treatment for infantile Refsum disease. Treatment is symptomatic and supportive and includes restricting foods that contain phytanic acid and plasmapheresis. Dietary restrictions have already been imposed by you. One can think of plasmapheresis now. The prognosis for individuals with infantile Refsum disease is poor with death generally occurring in the second decade of life.


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