A 14-year-old girl with bilateral renal cell carcinoma (hypernephroma) complicating a previously unrecognized tuberous sclerosis is reported from Cornell Univ Med College, NY, and North Shore Univ Hosp, Manhasset, NY, together with a review of 6 similar cases culled from the literature. The patient presented with a 6-month history of progressive weight loss and anemia. She had an acne-like rash on her face and a nodule on her tongue. Her father and paternal uncle were institutionalized for convulsive and psychiatric disorders. Abdominal sonogram and CAT scan showed a large mass arising from the right kidney and a smaller mass in the left kidney. Areas of sclerosis and periventricular calcifications were found in skull X-rays and CAT scan of the head. Renal cell carcinoma and hamartomatous nodules were diagnosed at surgery. Epithelial-lined cysts of the kidney and adenoma sebaceum of the face were typical of tuberous sclerosis. All abnormal hematological and chemistry values, including hypercalcemia, anemia, thrombocytopenia, and hypoalbuminemia returned to normal and the patient was asymptomatic at 3 years after surgery. [1]

COMMENT. Tumors occur more commonly in the kidney than in any other organ as a manifestation of tuberous sclerosis, their frequency being estimated at 80% [2]. Hamartoma or multiple angiomyolipoma is the most frequent variety but hypernephroma, liposarcoma, adenosarcoma, myosarcoma, and perithelioma are also described [3]. Mostly bilateral and often multiple, they sometimes undergo cystic degeneration. Of 29 cases of tuberous sclerosis reported by Fowler JS and Dickson WEC [4], 17 (58%) had renal tumors.

The present authors recommend that all patients with tuberous sclerosis should have periodic sonography of the kidney and frequent urinalysis, especially in adolescence and adult life when the incidence of renal masses begins to increase. Fortunately, most renal tumors associated with tuberous sclerosis are relatively benign and patients with renal cell carcinoma localized to the kidney have a 75% chance of recovery following surgery alone.