The classical tetrad of peripheral neuropathy, retinitis pigmentosa, cerebellar ataxia and elevated CSF protein is found in which hereditary neuropathy?
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.
Fabry disease
Refsum’s disease
Tangier’s disease
Adrenoleukodystrophy