PT  - JOURNAL ARTICLE
AU  - Vaishali Choksi
AU  - Ellen Hoeffner
AU  - Ercan Karaarslan
AU  - Cengiz Yalcinkaya
AU  - Sinan Cakirer
TI  - Infantile Refsum Disease: Case Report
DP  - 2003 Nov 01
TA  - American Journal of Neuroradiology
PG  - 2082--2084
VI  - 24
IP  - 10
4099  - http://www.ajnr.org/content/24/10/2082.short
4100  - http://www.ajnr.org/content/24/10/2082.full
SO  - Am. J. Neuroradiol.2003 Nov 01; 24
AB  - 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.