RUBINSTEIN-TAYBI SYNDROME WITH THYMIC HYPOPLASIA

We report the autopsy findings in a 20-month-old boy with Rubinstein-T aybi syndrome and DiGeorge sequence. No visible thymus was demonstrate d at the time of autopsy. With careful microscopic examination, a few pieces of thymic tissues found near the thyroid gland showed remarkabl e depletion of both thymocytes and cortical epithelial cells. Immunohi stological staining with T-cell surface antigens resulted in a definit e positive reaction. Repeated respiratory infections present in this p atient may, in part, be attributable to thymic hypoplasia. Other major anomalies included broad thumbs and great toes, microphthalmia, arrhi nencephaly, patent ductus arteriosus, stenosis of the uretero-vesicula r junction, bilateral cryptorchidism, and minor facial anomalies.