Clinico-neuropathological study of incontinentia pigmenti achromians--an autopsy case

A clinico-neuropathological study of a Japanese girl with hypomelanosis of Ito, one of the neurocutaneous syndromes, is reported. At birth, typical skin hypopigmentation on the trunk and a hypopigmented streak on the left lower extremity were noted. From 2 months of age, intractable convulsions occurred and EEG showed various abnormalities. Psychomotor development was severely retarded and she died of pneumonia at the age of 13 months. Neuropathological examination revealed brachycephaly, micropolygyria and asymmetry of lateral ventricles. A histological examination showed a disarray of cortical lamination, and the existence of nerve cells in the white matter. These pathological findings showed a migration anomaly during brain maturation.