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Symptomatic Bilateral Renal Angiomyolipomas in a Child
0022-534 7/87 /1372-0256$02.00/0 Vol. 137, February
THE JOURNAL OF UROLOGY
Copyright© 1987 by The Williams & Wilkins Co.
Printed in U.S.A.
Pediatric Articles SYMPTOMATIC BILATERAL RENAL ANGIOMYOLIPOMAS IN A CHILD WILLIAM G. HENDREN AND GERARD J. MONFORT From the Departments of Surgery, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, and University Aix-Marseilles, Marseilles, France
ABSTRACT
We report a case of bilateral renal angiomyolipomas in a child with Bourneville's tuberous sclerosis. The case is unusual because of the early age of the patient at which symptoms occurred. The presentation and treatment are discussed, and the literature is reviewed. Renal disease can occur in young patients with tuberous sclerosis and it is of clinical importance to document renal involvement in these children. Renal angiomyolipomas are unusual benign vascular tumors of smooth muscle and fatty tissue. Two types have been described.1 In patients with tuberous sclerosis the tumors tend to be multiple, bilateral and rarely symptomatic, often being noted only at autopsy. The second type occurs in the general population and usually presents as a large, symptomatic unilateral mass. We report symptomatic bilateral renal angiomyolipomas in a child with tuberous sclerosis. CASE REPORT
B. J., a 10-year-old boy, presented with fever, nausea and abdominal pain on the right side. He had had convulsions when he was 4 months old and diagnosis was tuberous sclerosis. When the patient was 2 years old electroencephalographic changes consistent with tuberous sclerosis were recorded and at age 5 years the papules of adenoma sebaceum often seen with the disease erupted. A baseline excretory urogram (IVP) was performed when the boy was 7 years old to document the presence or absence of renal involvement. A single solid mass occupying the right upper pole was found and no cystic lesions were seen. From a urological standpoint the patient was asyn1ptomatic and he had normal renal function. The patient was normotensive, with a temperature of 104F. On physical examination a mass on the right side of the abdomen was palpated. Serum hemoglobin was normal and the white blood count was 12,700, with 65 per cent polymorphonucleocytes. Renal function was normal. Multiple urine and blood cultures were negative. An IVP showed a heterogeneous mass in the right upper pole with mild caliceal dilatation (fig. 1). There was a duplex collecting system on the left side but, otherwise, it was normal. Computerized tomography (CT) showed a large anterior renal mass with a central area of fat density on the right side and the new findings of small tumor nodules on the left side (fig. 2). The findings on the CT scan were believed to be consistent with renal angiomyolipomas. The patient did not respond to empiric antibiotic therapy. Because of persistent fever and abdominal pain, exploration was done. At operation the right kidney was replaced almost entirely by tumor (fig. 3), while 3 discrete large nodules were found on the left side. Right nephroureterectomy was performed and multiple tumors were removed from the left kidney. Accepted for publication August 28, 1986. 256
The right kidney weighed 530 gm. The superior pole had a multilobulated mass that contained multiple zones of necrosis and hemorrhage. The mass was separate from the surrounding parenchyma but no true capsule was identified. Histologically, the right and left specimens were identical, showing typical adipose cells and spindle-shaped smooth muscle cells around numerous thick-walled vessels. Convalescence was uneventful. The patient was well 3 years postoperatively. A recent IVP showed a normal left kidney that was homogeneous by ultrasonography, without visible tumors. Renal function is normal. DISCUSSION
The association of renal angiomyolipomas with tuberous sclerosis has been known for more than 100 years, since Bourneville first noted the lesions in autopsy specimens. 2Many cases have been reported in the literature and the clinicopathological features have been described. 3 • 4 Between 40 and 80 per cent of the patients with tuberous sclerosis have renal lesions. 5 •6 In contrast to those patients not having this neurological disease, the renal lesions in patients with tuberous sclerosis usually are asymptomatic, multiple and bilateral. Although they typically are innocuous and silent, when they do become symptomatic the most common presentations are abdominal pain and hematuria. 7 •8 Our patient presented with abdominal pain and fever. In the absence of any positive culture data we attribute the presence of fever to the large zones of tumor necrosis that were present. A previous report describes angiomyolipomas presenting as fever of unknown origin. 9 Renal angiomyolipomas usually become symptomatic in patients when they are an average of 31 years old. 8 • 10 This supports the idea that these are slowly growing benign tumors that become symptomatic when bleeding or necrosis occurs. Our case is noteworthy because it documents symptomatic renal involvement in a young patient with tuberous sclerosis. Generally, it is believed that children who die with this disease do so of other causes. Indeed, the morbidity and mortality in these patients from renal pathological conditions are so low in some series that it has been stated that documentation of renal involvement is of more academic than clinical merit. 11 In fact, the actual number of cases of renal hamartomas in children with tuberous sclerosis is low, and most of these are autopsy reports of children who died of other causes. 2·5 • 6• 12-14 Anderson and Tannen described a 19-year-old girl who had
257
FIG. 3. Operative view of right kidney, which has been sectioned, shows normal lower pole of kidney (large arrow) and mass, which is multilobular and contains adipose tissue (small arrows). FIG. 1. IVP demonstrates medial compression of right renal pelvis from tumor (arrows) and duplex collecting system of left kidney with no masses identified.
renal angiomyolipoma in a child with Bourneville's tuberous sclerosis. It will be interesting to see if similar cases are reported as the early diagnosis and treatment improve for children with tuberous sclerosis. REFERENCES 1. Scott, M. B., Halpern, M. and Cosgrove, M. D.: Renal angiornyo-
lipoma: two varieties. Urology, 6: 768, 1975. 2. Bourneville, D. M.: Contribution a l'etude de l'idiotia. Sclerose 3.
4. 5. FIG. 2. CT scan demonstrates large, anterior right renal mass (arrows). Mass contains large central area of fat density, characteristic of these lesions. Small lateral tumor nodule is identified on left kidney (white arrow).
been followed since she was 14 months old for what was presumed to have been polycystic disease. 15 When she suffered renal failure the stigmas of tuberous sclerosis were noted and the appropriate diagnosis of angiomyolipoma was made. Moolten reported an interesting case of a child with tuberous sclerosis who became symJJtcnnat:tc bleeding into an angiomyolipoma following trauma. 14 Scott and associates reported on a 12-year-old child with the disease who had a large renal tumor on an IVP and, subsequently, underwent an operation to exclude carcinoma. 1 Recently, Yu and Sheth reported cystic renal involvement in tuberous sclerosis in 2 children, 1 of whom was 15 years old and symptomatic with renal failure. 16 This case demonstrates that renal disease with tuberous sclerosis may become apparent in patients at an early age and that it may be of clinical importance to document renal involvement in these children. Treatment must be expectant and conservative. While the idea of conservative surgery and tumorectomy in this disease is not new, this case shows the role that tumorectomy can have, especially when the contralateral kidney has been destroyed completely. In summary, this is an unusual case of early symptomatic
6. 7. 8. 9.
10.
11. 12.
13. 14.
15.
16.
tubereuse des circonvolutions cerebrales; idiotie et epilepsie hemiplegique. Arch. de Neur., l: 81, 1880. Gomez, M. R.: Tuberous Sclerosis. New York: Raven Press, p. 143, 1979. Hajdu, S. I. and Foote, F. W., Jr.: Angiomyolipoma of the kidney. Report of 27 cases and review of the literature. J. Urol., 102: 396, 1969. Fischer, W.: Die Nierentumoren bei der Tuberosen Hirnsklerose. Zeigler Beit. Z. Path. Anat. U. Z. Allg. Path., 50: 235, 1911. Critchley, M. and Earl, C. J. G.: Tuberose sclerosis and allied conditions. Brain, 55: 311, 1932. Rao, P. N., Osborn, D. E., Barnard, R. J. and Best, J. J. K.: Symptomatic renal angiomyolipoma. Brit. J. Urol., 53: 212, 1981. Walker, D. E., Barry, J. M. and Hodges, C. V.: Angiomyolipoma: diagnosis and treatment. J. Urol., 116: 712, 1976. Campbell, E. W., Brantley, R., Harrold, M. and Simson, L. R.: Angiomyolipoma presenting as fever of unknown origin. Amer. J. Med., 57: 843, 1974. Bissada, N. K., White, H. J., Sun, C. N., Smith, P. L., Barbour, G. L. and Redman, J. F.: Tuberous sclerosis complex and renal angiomyolipoma: collective review. Urology, 6: 1975. Golgi, H.: Tuberous sclerosis and renal neoplasms. Urol., 85: 919, 1961. Farrow, G. M., Harrison, E. G., Jr., Utz, D. C. and Jones, D. R.: Renal angiomyolipoma. A clinicopathologic study of 32 cases. Cancer, 22: 564, 1968. Inglis, K.: The relation of the renal lesions to the cerebral lesions in the tuberous sclerosis complex. Amer. J. Path., 30: 739, 1954. Moolten, S. E.: Hamartial nature of the tuberous sclerosis complex and its bearing on the tumor problem; report of a case with tumor anomaly of the kidney and adenoma sebaceum. Arch. Intern. Med., 69: 589, 1942. Anderson, D. and Tannen, R. L.: Tuberous sclerosis and chronic renal failure. Potential confusion with polycystic kidney disease. Amer. J. Med., 4 7: 163, 1969. Yu, D. T. and Sheth, J. J.: Cystic renal involvement in tuberous sclerosis. Clin. Ped., 24: 36, 1985.
THE JOURNAL OF UROLOGY
Copyright© 1987 by The Williams & Wilkins Co.
Printed in U.S.A.
Pediatric Articles SYMPTOMATIC BILATERAL RENAL ANGIOMYOLIPOMAS IN A CHILD WILLIAM G. HENDREN AND GERARD J. MONFORT From the Departments of Surgery, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, and University Aix-Marseilles, Marseilles, France
ABSTRACT
We report a case of bilateral renal angiomyolipomas in a child with Bourneville's tuberous sclerosis. The case is unusual because of the early age of the patient at which symptoms occurred. The presentation and treatment are discussed, and the literature is reviewed. Renal disease can occur in young patients with tuberous sclerosis and it is of clinical importance to document renal involvement in these children. Renal angiomyolipomas are unusual benign vascular tumors of smooth muscle and fatty tissue. Two types have been described.1 In patients with tuberous sclerosis the tumors tend to be multiple, bilateral and rarely symptomatic, often being noted only at autopsy. The second type occurs in the general population and usually presents as a large, symptomatic unilateral mass. We report symptomatic bilateral renal angiomyolipomas in a child with tuberous sclerosis. CASE REPORT
B. J., a 10-year-old boy, presented with fever, nausea and abdominal pain on the right side. He had had convulsions when he was 4 months old and diagnosis was tuberous sclerosis. When the patient was 2 years old electroencephalographic changes consistent with tuberous sclerosis were recorded and at age 5 years the papules of adenoma sebaceum often seen with the disease erupted. A baseline excretory urogram (IVP) was performed when the boy was 7 years old to document the presence or absence of renal involvement. A single solid mass occupying the right upper pole was found and no cystic lesions were seen. From a urological standpoint the patient was asyn1ptomatic and he had normal renal function. The patient was normotensive, with a temperature of 104F. On physical examination a mass on the right side of the abdomen was palpated. Serum hemoglobin was normal and the white blood count was 12,700, with 65 per cent polymorphonucleocytes. Renal function was normal. Multiple urine and blood cultures were negative. An IVP showed a heterogeneous mass in the right upper pole with mild caliceal dilatation (fig. 1). There was a duplex collecting system on the left side but, otherwise, it was normal. Computerized tomography (CT) showed a large anterior renal mass with a central area of fat density on the right side and the new findings of small tumor nodules on the left side (fig. 2). The findings on the CT scan were believed to be consistent with renal angiomyolipomas. The patient did not respond to empiric antibiotic therapy. Because of persistent fever and abdominal pain, exploration was done. At operation the right kidney was replaced almost entirely by tumor (fig. 3), while 3 discrete large nodules were found on the left side. Right nephroureterectomy was performed and multiple tumors were removed from the left kidney. Accepted for publication August 28, 1986. 256
The right kidney weighed 530 gm. The superior pole had a multilobulated mass that contained multiple zones of necrosis and hemorrhage. The mass was separate from the surrounding parenchyma but no true capsule was identified. Histologically, the right and left specimens were identical, showing typical adipose cells and spindle-shaped smooth muscle cells around numerous thick-walled vessels. Convalescence was uneventful. The patient was well 3 years postoperatively. A recent IVP showed a normal left kidney that was homogeneous by ultrasonography, without visible tumors. Renal function is normal. DISCUSSION
The association of renal angiomyolipomas with tuberous sclerosis has been known for more than 100 years, since Bourneville first noted the lesions in autopsy specimens. 2Many cases have been reported in the literature and the clinicopathological features have been described. 3 • 4 Between 40 and 80 per cent of the patients with tuberous sclerosis have renal lesions. 5 •6 In contrast to those patients not having this neurological disease, the renal lesions in patients with tuberous sclerosis usually are asymptomatic, multiple and bilateral. Although they typically are innocuous and silent, when they do become symptomatic the most common presentations are abdominal pain and hematuria. 7 •8 Our patient presented with abdominal pain and fever. In the absence of any positive culture data we attribute the presence of fever to the large zones of tumor necrosis that were present. A previous report describes angiomyolipomas presenting as fever of unknown origin. 9 Renal angiomyolipomas usually become symptomatic in patients when they are an average of 31 years old. 8 • 10 This supports the idea that these are slowly growing benign tumors that become symptomatic when bleeding or necrosis occurs. Our case is noteworthy because it documents symptomatic renal involvement in a young patient with tuberous sclerosis. Generally, it is believed that children who die with this disease do so of other causes. Indeed, the morbidity and mortality in these patients from renal pathological conditions are so low in some series that it has been stated that documentation of renal involvement is of more academic than clinical merit. 11 In fact, the actual number of cases of renal hamartomas in children with tuberous sclerosis is low, and most of these are autopsy reports of children who died of other causes. 2·5 • 6• 12-14 Anderson and Tannen described a 19-year-old girl who had
257
FIG. 3. Operative view of right kidney, which has been sectioned, shows normal lower pole of kidney (large arrow) and mass, which is multilobular and contains adipose tissue (small arrows). FIG. 1. IVP demonstrates medial compression of right renal pelvis from tumor (arrows) and duplex collecting system of left kidney with no masses identified.
renal angiomyolipoma in a child with Bourneville's tuberous sclerosis. It will be interesting to see if similar cases are reported as the early diagnosis and treatment improve for children with tuberous sclerosis. REFERENCES 1. Scott, M. B., Halpern, M. and Cosgrove, M. D.: Renal angiornyo-
lipoma: two varieties. Urology, 6: 768, 1975. 2. Bourneville, D. M.: Contribution a l'etude de l'idiotia. Sclerose 3.
4. 5. FIG. 2. CT scan demonstrates large, anterior right renal mass (arrows). Mass contains large central area of fat density, characteristic of these lesions. Small lateral tumor nodule is identified on left kidney (white arrow).
been followed since she was 14 months old for what was presumed to have been polycystic disease. 15 When she suffered renal failure the stigmas of tuberous sclerosis were noted and the appropriate diagnosis of angiomyolipoma was made. Moolten reported an interesting case of a child with tuberous sclerosis who became symJJtcnnat:tc bleeding into an angiomyolipoma following trauma. 14 Scott and associates reported on a 12-year-old child with the disease who had a large renal tumor on an IVP and, subsequently, underwent an operation to exclude carcinoma. 1 Recently, Yu and Sheth reported cystic renal involvement in tuberous sclerosis in 2 children, 1 of whom was 15 years old and symptomatic with renal failure. 16 This case demonstrates that renal disease with tuberous sclerosis may become apparent in patients at an early age and that it may be of clinical importance to document renal involvement in these children. Treatment must be expectant and conservative. While the idea of conservative surgery and tumorectomy in this disease is not new, this case shows the role that tumorectomy can have, especially when the contralateral kidney has been destroyed completely. In summary, this is an unusual case of early symptomatic
6. 7. 8. 9.
10.
11. 12.
13. 14.
15.
16.
tubereuse des circonvolutions cerebrales; idiotie et epilepsie hemiplegique. Arch. de Neur., l: 81, 1880. Gomez, M. R.: Tuberous Sclerosis. New York: Raven Press, p. 143, 1979. Hajdu, S. I. and Foote, F. W., Jr.: Angiomyolipoma of the kidney. Report of 27 cases and review of the literature. J. Urol., 102: 396, 1969. Fischer, W.: Die Nierentumoren bei der Tuberosen Hirnsklerose. Zeigler Beit. Z. Path. Anat. U. Z. Allg. Path., 50: 235, 1911. Critchley, M. and Earl, C. J. G.: Tuberose sclerosis and allied conditions. Brain, 55: 311, 1932. Rao, P. N., Osborn, D. E., Barnard, R. J. and Best, J. J. K.: Symptomatic renal angiomyolipoma. Brit. J. Urol., 53: 212, 1981. Walker, D. E., Barry, J. M. and Hodges, C. V.: Angiomyolipoma: diagnosis and treatment. J. Urol., 116: 712, 1976. Campbell, E. W., Brantley, R., Harrold, M. and Simson, L. R.: Angiomyolipoma presenting as fever of unknown origin. Amer. J. Med., 57: 843, 1974. Bissada, N. K., White, H. J., Sun, C. N., Smith, P. L., Barbour, G. L. and Redman, J. F.: Tuberous sclerosis complex and renal angiomyolipoma: collective review. Urology, 6: 1975. Golgi, H.: Tuberous sclerosis and renal neoplasms. Urol., 85: 919, 1961. Farrow, G. M., Harrison, E. G., Jr., Utz, D. C. and Jones, D. R.: Renal angiomyolipoma. A clinicopathologic study of 32 cases. Cancer, 22: 564, 1968. Inglis, K.: The relation of the renal lesions to the cerebral lesions in the tuberous sclerosis complex. Amer. J. Path., 30: 739, 1954. Moolten, S. E.: Hamartial nature of the tuberous sclerosis complex and its bearing on the tumor problem; report of a case with tumor anomaly of the kidney and adenoma sebaceum. Arch. Intern. Med., 69: 589, 1942. Anderson, D. and Tannen, R. L.: Tuberous sclerosis and chronic renal failure. Potential confusion with polycystic kidney disease. Amer. J. Med., 4 7: 163, 1969. Yu, D. T. and Sheth, J. J.: Cystic renal involvement in tuberous sclerosis. Clin. Ped., 24: 36, 1985.