[MRI and SPECT of adrenoleukodystrophy (cerebello-brainstem dominant form)--a case report]

We reported a 28-year-old man with adrenoleukodystrophy showing neurological features of olivopontocerebellar atrophy. He had a 11-year history of Addison's disease. ACTH stimulation produced no rise in the plasma cortisol level. The ratios of C24:0/C22:0, C25:0/C22:0, and C26:0/C22:0 in fatty acids of sphingomyelin from plasma were all increased. MRI showed the atrophy of brainstem and cerebellum and the abnormal hyperintense lesions of the bilateral pyramidal tracts in the brainstem and internal capsule. 99mTc-HM PAO SPECT showed hypoperfusion of the deep white matter, frontal lobes, temporal lobes, and cerebellum. We suggest that SPECT may be useful for detection of subclinical lesions in ALD.