Infantile refsum disease: case report.
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.
Choksi
Vaishali
V
Department of Neuroradiology, University of Michigan Health System, Ann Arbor, USA. vrchoksi@med.unmich.edu
Hoeffner
Ellen
E
Karaarslan
Ercan
E
Yalcinkaya
Cengiz
C
Cakirer
Sinan
S
D001921:Brain / Q000473:pathology*; D002675:Child, Preschool; D018450:Disease Progression; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D018901:Peroxisomal Disorders / Q000175:diagnosis*; D013997:Time Factors