Regional cortical dysplasia associated with suspected hypomelanosis of Ito

Abstract

A 15-year-old girl with epilepsy, whose skin lesions were reminiscent of hypomelanosis of Ito, is reported. She manifested hypopigmented linear streaks on her upper and lower limbs. Brain magnetic resonance imaging examinations demonstrated poor differentiation of cerebral gray and white matter of her left occipital lobe, with accompanying gliosis. This region also revealed narrowing of sulci, considered to be mass effect. In this region, almost continuous spike discharges were evident on electroencephalograms, and low-perfusion status was observed on single photon emission computed tomography at rest. She also manifested right lower homonymous quadrant anopsia, which may have its origin in the lesion detected, which appeared to be a migration disorder of neuroblasts in our patient, suggesting that the spectrum of hypomelanosis of Ito might be involved.