Infantile refsum disease: case report.

Abstract

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.

• Authors: Vaishali Choksi, Ellen Hoeffner, Ercan Karaarslan, Cengiz Yalcinkaya, Sinan Cakirer
• Journal: AJNR. American journal of neuroradiology (AJNR Am J Neuroradiol) 2003 Nov-Dec Vol. 24 Issue 10 Pg. 2082-4 ISSN: 0195-6108 [Print] United States
• PMID: 14625237 (Publication Type: Case Reports, Journal Article)

Topics

• Brain (pathology)
• Child, Preschool
• Disease Progression
• Female
• Humans
• Infant
• Magnetic Resonance Imaging
• Male
• Peroxisomal Disorders (diagnosis)
• Time Factors