HYPOMELANOSIS OF ITO ASSOCIATED WITH HEMIMEGALENCEPHALY - A CLINICOPATHOLOGICAL STUDY

A girl with hypomelanosis of Ito was studied both clinically and at po stmortem examination, She manifested severe epilepsy early after birth , Magnetic resonance imaging demonstrated left-sided hemimegalencephal y, The seizures were secondarily generalized or unilateral initially, followed by infantile spasms with asymmetrical hypsarrhythmia at 1.5 m onths of age. Frequent complex partial seizures, refractory to antiepi leptic drug treatments appeared at 4 months of age, She died of pneumo nia at the age of 14 months. Postmortem examination revealed marked as ymmetry of the cerebrum and gyral abnormalities in the left cerebral h emisphere, Histopathologically, severe disorganization of the neuronal cytoarchitecture was evident, Absence of delineation between cortical gray and white matter was evident, as was increase and hypertrophy of the neurons and glial cells. We believe that the association of skin and brain lesions was not one of chance; that is, they may share a com mon pathogenetic mechanism. (C) 1997 by Elsevier Science Inc. All righ ts reserved.