RT Journal Article
SR Electronic
T1 Infantile Refsum Disease: Case Report
JF American Journal of Neuroradiology
JO Am. J. Neuroradiol.
FD American Society of Neuroradiology
SP 2082
OP 2084
VO 24
IS 10
A1 Vaishali Choksi
A1 Ellen Hoeffner
A1 Ercan Karaarslan
A1 Cengiz Yalcinkaya
A1 Sinan Cakirer
YR 2003
UL http://www.ajnr.org/content/24/10/2082.abstract
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.