A high perinatal mortality rate, with 6 of the 12
documented patients dying in the first 4 days of life. Mental retardation is
present. Features include macrosomia, visceromegaly, and pancreatic islet
hyperplasia. Hypoglycemia from hyperinsulinism is an important feature and
may be a preventable cause of death. Isolated cardiac anomalies (interrupted
aortic arch, anomalous left coronary artery), diaphragmatic hernia, and
cerebral anomalies (cysts, white matter hypoplasia, gray matter heteropsia)
have been reported. Renal involvement includes hydronephrosis, renal
dysplasia, hamartomas, and nephroblastomatosis. Wilms tumor developed in
almost 50% of patients. These tumors usually present in the first year of
life and are often bilateral. Ultrasonography screening for Wilms tumor is
performed every 3 months. Wilms tumor is treated by surgical resection,
radiation, and chemotherapy.