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Infantile Refsum disease: serial evaluation with MRI

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Abstract

Refsum disease is a rare metabolic disorder, which is characterized by the accumulation of phytanic acid in the blood and tissues, including the brain. A variant of this condition that occurs in young children is called infantile Refsum disease. The MRI findings of symmetrical signal change involving the corticospinal tracts, cerebellar dentate nuclei, and corpus callosum are characteristic. We report the serial MRI findings of a child with this rare metabolic disorder.

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Authors and Affiliations

  1. Neuroradiology Section, Department of Radiology, Sisli Etfal Hospital, Istanbul, Turkey

    Sinan Cakirer & Mahmut R. Savas

  2. 67 Ada, Kardelen 4/2, Daire 37, 81120, Atasehir-Istanbul, Turkey

    Sinan Cakirer

Authors
  1. Sinan Cakirer
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  2. Mahmut R. Savas
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Correspondence to Sinan Cakirer.

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Cakirer, S., Savas, M.R. Infantile Refsum disease: serial evaluation with MRI. Pediatr Radiol 35, 212–215 (2005). https://doi.org/10.1007/s00247-004-1332-3

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  • DOI: https://doi.org/10.1007/s00247-004-1332-3

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