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Medicine General 5d12e036

The classical tetrad of peripheral neuropathy, retinitis pigmentosa, cerebellar ataxia and elevated CSF protein is found in which hereditary neuropathy?

A
Fabry disease
B
Refsum’s disease
C
Tangier’s disease
D
Adrenoleukodystrophy
High-Yield Explanation
Refsum’s disease is autosomal recessive inborn error of metabolism . It is due to accumulation of phytanic acid in blood and tissues. Classical features include retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, elevated protein in CSF without increases in the number of cells.

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