Question:
Features of Refsum disease are all except:
Features of Refsum disease are all except:
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Recall the eyes-nerves-brain-skin tetrad of this phytanic acid disorder.
Updated On: Jun 24, 2026
- Ataxia
- CCF
- Ichthyosis
- Retinitis pigmentosa
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The Correct Option is B
Solution and Explanation
Step 1: Refsum disease is a peroxisomal disorder caused by a deficiency of phytanoyl-CoA hydroxylase (oxidase). This leads to accumulation of phytanic acid in tissues.
Step 2: The classic clinical tetrad is retinitis pigmentosa with impaired vision, peripheral neuropathy, cerebellar ataxia and ichthyosis (dry scaly skin). These are the recognized features.
Step 3: Congestive cardiac failure (CCF) is not a defining feature of the syndrome, although cardiac conduction problems can occur. Among the given options, CCF is the exception and is the correct answer.
Step 2: The classic clinical tetrad is retinitis pigmentosa with impaired vision, peripheral neuropathy, cerebellar ataxia and ichthyosis (dry scaly skin). These are the recognized features.
Step 3: Congestive cardiac failure (CCF) is not a defining feature of the syndrome, although cardiac conduction problems can occur. Among the given options, CCF is the exception and is the correct answer.
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