A Boy With Progressive Cognitive Impairment and Darkening of Skin

Abstract

A 15-year-old boy was brought to our hospital for evaluation of progressive cognitive impairment and darkening of skin for 3 years. He could not keep up with his peers in school, and there was hearing difficulty and dimness of vision as well. His parents noticed darkening of the skin along with the pigmentation of the tongue and oral mucosa (Fig. 1 and 2). There was no history of such illness in his family. His blood pressure was 100/60 mm Hg, with no postural drop. The magnetic resonance imaging scan of the brain revealed bilateral symmetrical large areas of change in signal intensity within the deep white matter of both the cerebral hemisphere and brainstem, suggestive of a white matter lesion (Fig. 3).