Adrenoleukodystrophy with olivopontocerebellar atrophy-like lesions

In a 46-year-old Japanese man with chronic psychiatric and neurologic symptoms, autopsy revealed enlarged adrenal cortical cells with trilamellar cytoplasmic inclusions and demyelinating lesions, marked in the fronto-parietal lobes and in the cerebellar hemispheres and corresponding to the pathology of adrenoleukodystrophy (ALD). Unusual gray matter lesions were found in the thalamus, cerebellar cortex, inferior olive and pontine nucleus, and the latter three lesions resembled those seen in cases of olivopontocerebellar atrophy (OPCA). These lesions are attributed to secondary changes due to disruption of the thalamo-cortical, cerebro-ponto-cerebellar and olivo-cerebellar connections.