We describe two cases of unusual presentation of tuberous sclerosis with cystic renal involvement. A 19-month-old white male who was initially misdiagnosed as having polycystic kidney disease of "adult-type" developed petit mal seizures and small "ash-leaf" depigmented areas, raising a suspicion of tuberous sclerosis. Computerized tomography (CT) of the brain revealed periventricular calcifications, confirming the diagnosis of tuberous sclerosis. A 15 3/4-year-old black female with tuberous sclerosis showed acceleration of renal failure. Computerized to mography scan of the abdomen showed cystic lesions of the kidneys. In young children with cystic renal involvement but a negative family history of tuberous sclerosis or polycystic kidney disease, a CT scan of the brain should assist in the diagnosis. A CT scan or ultrasound examination of the abdomen will differentiate cystic renal lesions from angiomyolipoma of the kidneys.
Get full access to this article
View all access options for this article.
References
1.
Chonko AM, Weiss SM, Stein JH, et al. Renal involvement in tuberous sclerosis. Am J Med1974;56:124-132.
2.
Stapleton FB , Johnson D., Kaplan GW, et al. The cystic renal lesion in tuberous sclerosis. J Pediatr1980 ;97:574-9.
3.
Anderson D., Tannen RLTuberous sclerosis and chronic renal failure. Potential confusion with polycystic kidney disease. Am J Med1969 ;47: 163-8.
4.
Wenzl JE, Lagos JE, Albers DDTuberous sclerosis presenting as polycystic kidneys and seizures in an infant . J Pediatr1970;77:673-6.
5.
Taylor JN, Genters K.Renal angiomyolipoma and tuberous sclerosis. J Urol1958;79:685-96.
6.
Zeigler RL, Harde TS, Fred HLRoentogenographic features of tuberous sclerosis. Am Fam Physician1970;1:88-91.
7.
Mitnick JS, Bosniak MA, Hilton S., et al. Cystic renal disease in tuberous sclerosis. Radiology1983;147:85-7.
8.
Okada RD, Platt MA, Fleishman J.Chronic renal failure in patients with tuberous sclerosis. Association with renal cysts. Nephron. 1982;30:85-8.
9.
Elkin M., Bernstein J.Cystic diseases of the kidney— Radiological and pathological considerations . Clin Radiol1969;20:65-82.
Bernstein J. , Brough AJ, McAdams AJThe renal lesion in syndromes of multiple congenital malformations. In: Bergsma D.The clinical delineation of birth defects, Vol 10. Baltimore : Williams and Wilkins , 1974:35-43.
12.
DeBono DP, Evans DBThe management of polycystic kidney disease with special reference to dialysis and transplantation. Q J Med1977 ;XLVI(183):353-63.
13.
Cree JE, Nash FWTuberous sclerosis with polycystic kidneys. Proc Roy Soc Med1969;62:327.
14.
Engstrom NE , Ljungqvist A., Persson B., et al. Tuberous sclerosis with a localized angiomatous malformation in the ileum and excessive albumin loss into the lower intestinal tract. Pediatrics1962;30:681-95.
15.
Campdera Fjg , Ramos AL, Delgado J., et al. Esclerosis tuberosa (ET) en la infancia. Su posible confucion con la poliquistosis renal tipo adulto. Nefrologia1982;2:205-9.
16.
Jones JC, Montoya SF, Johnson JWTuberous sclerosis presenting as chronic renal failure. South Med J1980;73:551-4.
17.
Nickel WR, Reed WB, Lachman R.The kidney in tuberous sclerosis. In: Bergsma D.The clinical delineation of birth defects, Vol 10. Baltimore: Williams and Wilkins, 1974:80-6.
18.
O'Callaghan TJ, Edwards JA, Tobin M., et al. Tuberous sclerosis with striking renal involvement in a family. Arch Intern Med , 1975;135:1082-7.
19.
Ozer FLPolycystic kidneys as the leading feature of tuberous sclerosis. In: Bergsma D. The clinical delineation of birth defects, Vol 10. Baltimore: Williams and Wilkins , 1974:160.
20.
Pratt-Thomas HRTuberous sclerosis with congenital tumors of the heart and kidneys. Am J Pathol1947 ;23:189.
21.
Simopoulos AP, Braslow A.Tuberous sclerosis in the newborn . Am J Dis Child1966;111:313-6.
