CT and MR Imaging of Neuroaxonal Leukodystrophy Presenting as Early-Onset Frontal Dementia

SUMMARY: CT and MR imaging showed diffuse changes of the frontal white matter and genu of the corpus callosum with minimal atrophy and no contrast enhancement in a 41-year-old woman with progressive dementia. Brain biopsy disclosed axonal spheroids and gliosis in the white matter without macrophage or inflammatory infiltration or vessel abnormalities consistent with neuroaxonal leukodys-trophy. This disease can be suspected on CT and MR imaging findings but requires neuropathologic examination to be diagnosed. CT and MR imaging evidence in an adult of white matterdamage confined to the frontal lobes and anterior corpus callosum with mild atrophy and without abnormal contrast enhancement is distinctly uncommon and represents a diag-nostic challenge. In fact, the whitematter damage in leukodys-trophies with adult onset as late-onset metachromatic leuko-dystrophy and globoid cell leukodystrophy usually is not confined to the frontal lobes.1,2 An exclusive frontal distribu-tion can be observed in adrenoleukodystrophy3 and adult-onset Alexander disease,4,5 but in the former condition con