• A Child with Whorls and Streaks: Look Beyond the Skin!

    One year ago - By The Journal of Pediatrics

    A 5-year-old-boy, born to nonconsanguineous parents, presented with global developmental delay and seizures. As a neonate, he had right focal tonic seizures and later developed asymmetric infantile spasms, generalized tonic seizures, and atypical absence seizures. He was on multiple antiepileptic drugs with only partial response. Examination showed microcephaly, right hemiparesis, and whorled hypopigmented patches over the trunk and left thigh. Magnetic resonance imaging of the brain showed left hemimegalencephaly .
    Read more ...