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
Answer is B. 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.