TY - JOUR T1 - Infantile Refsum Disease: Case Report JF - American Journal of Neuroradiology JO - Am. J. Neuroradiol. SP - 2082 LP - 2084 VL - 24 IS - 10 AU - Vaishali Choksi AU - Ellen Hoeffner AU - Ercan Karaarslan AU - Cengiz Yalcinkaya AU - Sinan Cakirer Y1 - 2003/11/01 UR - http://www.ajnr.org/content/24/10/2082.abstract N2 - Summary: Infantile Refsum disease is a rare inborn error of phytanic acid metabolism. It is inherited in an autosomal recessive manner and frequently causes signs and symptoms in the neonate period. The only source of phytanic acid in humans is exogenous, from diet. We report the MR imaging findings in two cases of infantile Refsum disease and note the MR imaging changes that occurred over time because of further progression of the disease. The initial diagnosis in both patients was made on basis of history, clinical findings, and biochemical studies. ER -