Beckwith-Wiedemann Syndrome with Unusual Sialoadenomegaly

Han, Hye Seung; Lee, Seung Sook; Lee, Suk Keun; Chi, Je G

Abstract

Beckwith-Wiedemann syndrome is a rare clinical entity characterized by exomphalos, macroglossia, macrosomia, and renal hyperplasia/dysplasia. Although its entity is established, its etiology and obligatory features have not been settled. We report an autopsy case with the unusual involvement of the salivary gland. This infant was born to a 37-year-old mother as a normal full-term spontaneous delivery. At 11 days of age she developed with purulent eye discharge and weak sucking, and died suddenly. At autopsy the baby weighed 2,630 gm and the head circumference was 35 cm. She showed thick and prominent skin folds, bilateral aural fissures, macroglossia, hepatomegaly, cardiomegaly, dysmorphic kidneys, and nesidioblastosis. Both kidneys showed dysplastic tubules and hyperplastic cortical tissue enclosing the medulla. In this case there were characteristic findings in major and minor salivary glands with both acinar and ductal hyperplasia, and hypertrophy of mammary glands. Besides, she had generalized depletion of subcutaneous fat, immature buccal fat, patent ductus arteriosus, hyperlobation of the right lung, two accessory spleens, and hyperplasia of basophils and chromophobes in the pituitary gland. The lungs showed diffuse interstitial pneumonia and multiple fibrin thrombi. There were no adrenal cytomegaly, umbilical hernia and exophthalmos.