RETINOIC ACID EMBRYOPATHY - CASE-REPORT AND REVIEW OF LITERATURE

Isotretinoin we as a treatment for acne has increased tremendously and , with it, the problems of associated birth defects. We feel that path ologists should be familiar with isotretinoin embryopathy and its path ogenesis in order to assist in differentiating this syndrome from othe r genetic syndromes that involve branchial arch defects, such as DiGeo rge syndrome or velocardiofacial syndrome. Although selected autopsy f indings have been presented in epidemiologic reports, to our knowledge a detailed autopsy report has not been published. We therefore wish t o present a complete case study of isotretinoin embryopathy that illus trates the pathologic diagnostic criteria and correlates these with th e clinical findings. Although the syndrome's major features are explai ned by the drug's effect on neural crest cells, it has been postulated that isotretinoin also affects other cells in the central nervous sys tem. Our current case supports this theory and shows that these change s in the nervous system may present significant functional impairment, while not presenting visible anatomic changes on either imaging studi es or routine histologic examinations.