Tuberous Sclerosis With a Localized Angiomatous Malformation in the Ileum and Excessive Albumin Loss Into the Lower Intestinal Tract

An infant presented with serious hypoproteinemia, intestinal edema, and polycystic kidneys. Test results on the liver, pancreas, suprarenal glands, and kidneys were normal, as were the fat and carbohydrate resorption. The hypoproteinemia was first considered to be idiopathic, but intravenous injection of I131-labelled albumin disclosed an enormous leakage of albumin in the lower part of the intestinal tract. The general condition was not influenced by steroids or human growth hormones, but large quantities of albumin supplied parenterally had a temporary effect. The child died at 11 months, after the development of obscure neurologic symptoms. At autopsy, changes typical of the tuberous sclerosis complex were found. The extracerebral manifestations were cystic fibroangiomatous renal tumors, with polycystic changes of the "adult type" in the kidneys and a submucosal hemangioma of the distal ileum. The latter in all probability constituted the site of albumin leakage.