Abstract

Adrenoleukodystrophy is an X-linked hereditary disorder involving cerebral white matter, adrenal cortex and testis. The incidence of this disease is ranging between 1/25 000 and 1/100 000.  This disease is diagnosed by demonstrating accumulation of very long chain fatty acids in plasma and fibroblasts by moleculer studies. In follow up, the neurologic deficits due to adrenal insufficiency and demyelination are noted. Magnetic resonance imaging is the main modality in the evaluation of leukodystrophies. By presenting this case report, we planned to discuss the role of magnetic resonance imaging, magnetic resonance spectroscopy and diffusion weighted imaging in the diagnosis of adrenoleukodystrophy.

Key Words: Adrenoleukodystrophy; Magnetic resonance spectroscopy; Diffusion magnetic resonance imaging