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Case Reports
. 2003 Nov-Dec;24(10):2082-4.

Infantile refsum disease: case report

Vaishali Choksi  1 , Ellen Hoeffner, Ercan Karaarslan, Cengiz Yalcinkaya, Sinan Cakirer
Affiliations
Case Reports

Infantile refsum disease: case report

Vaishali Choksi et al. AJNR Am J Neuroradiol. 2003 Nov-Dec.

Erratum in

  • AJNR Am J Neuroradiol. 2004 Jun-Jul;25(6):1125

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.

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Figures

F<sc>ig</sc> 1.
Fig 1.
FLAIR image in the initial MR imaging series, showing patchy periventricular white matter hyperintensities.
F<sc>ig</sc> 2.
Fig 2.
Follow-up MR image, revealing increase in the periventricular white matter hyperintensities.
F<sc>ig</sc> 3.
Fig 3.
Follow-up FLAIR image, revealing increased signal intensity abnormality along the corticospinal tract in the internal capsules bilaterally along with hyperintense signal intensity in the periventricular white matter.
F<sc>ig</sc> 4.
Fig 4.
T1-weighted image in the recent MR imaging series, revealing mild enhancement along the corticospinal tracts.
See this image and copyright information in PMC

References

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