Infantile Refsum disease: serial evaluation with MRI.

Autor:	Cakirer, Sinan, Savas, Mahmut R.
Předmět:	REFSUM disease INFANT diseases METABOLIC disorders MAGNETIC resonance imaging BLOOD TISSUES CORPUS callosum PEROXISOMAL disorders BRAIN DIAGNOSIS
Zdroj:	Pediatric Radiology; Feb2005, Vol. 35 Issue 2, p212-215, 4p
Abstrakt:	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. [ABSTRACT FROM AUTHOR]
Databáze:	Complementary Index
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