Question:hard
Features of Refsum disease are all except:
Features of Refsum disease are all except:
Show Hint
Recall the eyes-nerves-brain-skin tetrad of this phytanic acid disorder.
Updated On: Jun 24, 2026
- Ataxia
- CCF
- Ichthyosis
- Retinitis pigmentosa
Show Solution
The Correct Option is B
Solution and Explanation
Step 1: Refsum disease arises when phytanic acid cannot be broken down because the peroxisomal enzyme phytanoyl-CoA hydroxylase is faulty. The stored phytanic acid damages several organ systems.
Step 2: Remember the picture by the eyes, nerves, brain and skin: night blindness from retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia and ichthyosis. Three of the four listed options (ataxia, ichthyosis, retinitis pigmentosa) sit squarely in this group.
Step 3: Congestive cardiac failure is not part of the core syndrome, so it is the odd option out for this except question.
\[\boxed{\text{CCF}}\]
Step 2: Remember the picture by the eyes, nerves, brain and skin: night blindness from retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia and ichthyosis. Three of the four listed options (ataxia, ichthyosis, retinitis pigmentosa) sit squarely in this group.
Step 3: Congestive cardiac failure is not part of the core syndrome, so it is the odd option out for this except question.
\[\boxed{\text{CCF}}\]
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