A 15-year-old boy has been diagnosed with retinitis pigmentosa, peripheral polyneuropathy, and cerebellar ataxia. Analysis of his cerebrospinal fluid indicated a high protein content but no elevation of cell number. A telling clinical finding was a high level of serum phytanic acid. These findings are indicative of which of the following disorders?

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Quizplus · Accepted Answer

Refsum disease is characterized by the accumulation of phytanic acid due to a defect in its metabolism, leading to symptoms such as retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and elevated protein in cerebrospinal fluid without pleocytosis.  Refsum disease is the result of defects in the oxidation of phytanic acid, a lipid requiring an α-oxidation pathway. As a consequence phytanic acid accumulates in the blood and tissues. The hallmark symptoms of the disease are retinitis pigmentosa, cerebellar ataxia, chronic polyneuropathy, and an elevation in protein in the cerebrospinal fluid with no increase in cell count

A 15-Year-Old Boy Has Been Diagnosed with Retinitis Pigmentosa, Peripheral