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AJNR - American Journal of Neuroradiology

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American Journal of Neuroradiology 24:2082-2084, November-December 2003
© 2003 American Society of Neuroradiology

Case Report
PEDIATRICS

Infantile Refsum Disease: Case Report

Vaishali Choksi^a, Ellen Hoeffner^a, Ercan Karaarslan^b, Cengiz Yalcinkaya and Sinan Cakirer^c

^a Department of Neuroradiology, University of Michigan Health System
^b Department of Radiology, Istanbul University, Cerrahpasa Medical School
^c Department of Radiology, Istanbul Sisli Etfal Hospital

Address reprint request to Vaishali Choksi, M.D., University of Michigan, Department of Radiology, B2 A 209, 1500 East Medical Center Drive, Ann Arbor, MI 48109, vrchoksi@med.unmich.edu

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.