血尿を主訴とした Bourneville Pringle 母斑症の1剖檢例

Abstract

We report a femal case, aged 25, of Bourneville-Pringle's Phacomatosis (tuberous sclerosis complex) with chief complains of heavy hematuria, colicky right abdominal pains and tumor in right abdomen.Clinical abstract. She had epileptiform attacks several times in her childhood. She was considered to be a below average or backward student. She has long noticed hemispherical papules about the size of a half rice grain on her face. The patient had occasionally had colic-like pain in the right abdomen after overworks but she was not aware of hematuria.On the morning of 19 December 1956, she developed hematuria with colic seizures in right abdomen, for which she was seen and hospitalized here.We found hematuria from the right kidney with cystoscopy.Retrograde pyelography was performed with pneumo-retroperitoneum and revealed an appearance of bilateral renal tumor (Fig. 1) The hematuria became severe following enema on the morning of 24 December. Then she lapsed into shock and developed epileptic seizures. She was placed on artificial respilation. However, she expired at 0940 hours of 24 December in spite of firstaid treatment.Principal findings at autopsy. a) Brain: Many sections of the brain reveal only a moderate dilatation of the spaces of Virchow-Robin. No nodule of tuberous sclerosis is found. b) Heart: There are a few well circumscribed yellow areas on the left ventricular wall. The yellow areas are islands of normal appearing fatty tissue (Fig. 2, 3). c) Lung: Hyperplasia, smooth muscle, left upper lobe, focal, nodular (Fig. 4). d) Intestine: In the fatty connective tissue adjacent to the large bowel, there is a small artery with eccentric lumen and an asymmetrical, thick intima. This vessel resembles those seen in the hamartomas of the kidneys (Fig. 5). e) Kidneys: The right kidney weighs 770 grams and the left weighs 270 grams. The external surface shows large, friable, yellow, neoplastic tissue and is irregular in shape (Fig. 6). The cut surfaces shows a large mass of neoplastic tissue. In the right kidney the mass of neoplastic tissue contains one cystic cavity containing coagulated blood and is separated by thin fibrous tissue from the renal pelvis. Small areas of renal parenchyma are noted. In these areas the corticomedullary junction is distinct. Other areas of the renal parenchyma are separated by large areas of neopastic tissue. The renal pelvis is compressed by neoplastic tissue (Fig. 7). The mucosa of the renal pelvis shows hemorrhagic areas. Many sections from both kidneys show that the microscopic pattern is essentially the same in both. In areas of the parenchyma not directly affected by the tumors described grossly, the pattern is essentially normal. Adjacent to and surrounding these areds and not separated from them by either a real or pseudocapsule, are the tumor areas. These are made up of whorls and streams of spindle-shaped cells, most of which are more fusiform and pointed and resemble fibrocytes.In the tumor there are many polymorphonuclear leuckocytic infiltration (Fig. 8, 9). Some islands of fat tissue are isolated in the streams of smooth muscle and fibrous cells. In the latter, no mitotic figures are seen although some cells are moderately atipical (Fig. 10). Scattered irregularly in the streams of smooth muscle are numerous blood vessels which generally resemble arteries and in which the intima is usually very thick and the media and adventitia are usually incomplete.The lumina of these vessels are usually eccentric (Fig. 11).Some of the vesselwalls are hyalinized. f) Skin of the face:There is a moderate increase in the number of sebaceous glands and a marked increase in the number of hair follicles (Fig. 12).The cases with chief complain of hematuria were reported only 3 upto now and we couldn't find such a case in the another reports as the present case which had the chief complain of heavy hematuria and the hematuria were supposed to be one cause of death.