An Unusual Case of Refsum Disease

Abstract

Refsum disease is a rare autosomal recessive disorder characterized by the accumulation of phytanic acid in plasma and tissues due to deficiency of the enzyme phytanoyl-CoA hydroxylase that break down phytanic acid. This case report presents a 55-year-old male patient with Refsum disease exhibiting classical symptoms such as retinitis pigmentosa, peripheral neuropathy, hearing loss, and skeletal abnormalities, however he had some atypical features of very small pupil (microcoria). Management primarily involves dietary restrictions, particularly the avoidance of foods rich in phytanic acid. Additionally, symptomatic treatment aimed at managing the neurological and sensory impairments was already employed. This case highlights the importance of early diagnosis and multidisciplinary care in mitigating the progression of Refsum disease and improving the patient's quality of life.