0022-534 7/79/1214-0543$02.00/0 Vol. 121, April Printed in U.S.A.
THE JOURNAL OF UROLOGY
Copyright © 1979 by The Williams & Wilkins Co.
SACRAL AGENESIS: DIAGNOSIS, TREATMENT AND FOLLOWUP OF UROLOGICAL COMPLICATIONS VICTOR BRAREN*
WILLIAM B. JONES
AND
From the Section of Surgical Sciences and Department of Urology, Vanderbilt University Medical Center and Vanderbilt Children's Hospital, Nashville, Tennessee
ABSTRACT
Sacral agenesis is an uncommon congenital anomaly that usually is accompanied by other orthopedic anomalies but often occurs singularly. We report our experience in the treatment and long-term followup of 4 cases of pure sacral agenesis. We strongly stress the need for early diagnosis and long-term careful followup. In our group the diagnosis was often overlooked and followup was poor. Studies must be undertaken to determine the type and degree of neurogenic vesicopathy in each child since this may vary from one patient to the next. We urge the early and long-term use of intermittent catheterization. The incidence of sacral agenesis has been reported variously to be between 0.09 and 0.43 per cent. 1• 2 This congenital anomaly is associated frequently with other orthopedic deformities as well as urological and neurological malformations. 3 Defective development of the second to fourth sacral nerve roots leads to a neuropathic bladder. Since the degree of this defective root development is variable the resulting bladder function can be subtle. This subtlety may lead to delay in diagnosis and the development of compromised renal parenchyma. Herein we present 4 cases of pure sacral agenesis to emphasize the need for early diagnosis and long-term followup. The therapeutic modalities are examined. CASE REPORTS
Case 1. T. W., a 3½-year-old child, was seen in 1972 for evaluation of recurrent urinary tract infections. The child was the product of a 7-month gestation and the mother had diabetes. No congenital anomalies were found on the physical examination. A film of the kidneys, ureters and bladder showed sacral agenesis with a normal first segment, hypoplastic second and third segments and absent fourth and fifth segments. Radiographic studies revealed left ureterohydronephrosis and left cortical thinning, as well as left ureterovesical reflux. Cystoscopy showed marked bladder trabeculation, Lyons 2-A right ureteral orifice and 3-A left ureteral orifice. A bilateral ureteroileostomy was done because of persistently infected urine. At 4-year followup the patient had stable renal function and she has had no urinary tract infections for the last 3 years. Case 2. M. C., a 23-year-old woman, was seen in 1976 with end stage renal disease. Sacral agenesis was discovered during childhood and urinary diversion was done elsewhere when she was 9 years old for correction of renal deterioration secondary to neurogenic bladder. Renal function continued to deteriorate and hemodialysis was started when she was 21 years old. Renal transplantation was done at our center and 1 year later the patient was doing well. Case 3. C. C., a 2-year-old girl, was noted to have complete sacral agenesis while in the hospital for correction of orthopedic deformities. She was the product of a full-term gestation and the mother had diabetes. Cystoscopy revealed urethral stenosis and excretory urography (IVP) showed normal upper tracts. The patient was followed closely by the Accepted for publication July 28, 1978. * Requests for reprints: Department of Urology Vanderbilt University, Nashville, Tennessee 37232. '
urology service and was treated with repeated urethral dilatations. Bilateral vesicoureteral reflux was noted when she was 3 years old. Because of sterile urine and normal upper tracts the patient initially was treated conservatively. Because of lack of bladder control, with its attendant social problems, urinary diversion was done when she was 5 years old. The patient is now 17 years old and has normal renal function but occasional asymptomatic bacteriuria. Case 4. S. F., a 3 pound 10 ounce female newborn, was delivered after 7½ months of gestation. The mother did not have diabetes. Bilateral hip dislocations, hypoplastic L3 and absent L4, L5 and sacrum were noted at birth. When the child was 2 years old an IVP revealed normal upper tracts, urine culture was positive and she had fecal and urinary incontinence. The patient was referred to us when she was 4 years old. A repeat IVP revealed normal upper tracts. The radioisotopic glomerular filtration rate was 160 ml. per minute. She was treated with self-intermittent catheterization. At 1½-year followup the renal function was stable and the patient tolerates intermittent catheterization well with no infection. DISCUSSION
In the management of a congenital neurogenic bladder secondary to sacral agenesis there are 3 objectives: preservation of renal function, control or elimination of infection and adequate urinary continence. Obviously, the first hurdle to overcome in proper management is that of early diagnosis. Thompson and associates found in their series of sacral agenesis that there was an average lapse of 5 years between the onset of urological symptoms and the diagnosis of neurogenic bladder. 4 Koontz and Prout stressed the catastrophic results of a delayed diagnosis and recommended review or spine films in all children with unexplained vesical dysfunction of recurrent urinary tract infections. 2 After the diagnosis is made a complete evaluation should involve urine culture, IVP, voiding cystourethrography, cystoscopy, cystometrics, anal electromyography and measurement of post-void residual. Findings from these diagnostic studies will determine what type of therapy should be instituted. Since preservation of renal function means avoidance of chronic pyelonephritis and hydronephrosis the finding of dilated upper tracts, cortical thinning, significant bacteriuria, large post-void residuals or vesicoureteral reflux indicates early aggressive therapy. Even if the initial evaluation shows only a mild neurogenic bladder with low post-void residuals, long-term followup is imperative. This is highlighted by 1 study that showed that examination of children 2 years old revealed a 3-fold increase in upper tract changes and a 5-fold increase in the incidence of reflux. 5 Prevention of hydronephrosis and chronic pyelonephritis can be achieved in most patients by maneuvers that enable complete emptying of the bladder with low intravesical pressures. Incontinence, whether of the spastic or overflow type, can be improved greatly by any of the methods used to prevent upper tract changes. The treatment modalities available include the Crede maneuver, bladder training, indwelling catheter drainage, intermittent catheterization, urinary diversion and plastic revision of the bladder neck. The Crede maneuver generally is unsatisfactory because it depends on the development of high intravesical pressure for voiding and there often is incomplete emptying of the bladder. Bladder training is useful in selected cases when the child is old enough and detrusor dysfunction is mild. The complications of long-term indwelling catheter drainage have been well recorded. Various plastic revisions of the bladder outlet have been recommended highly by Johnston and Farkas, 6 while others 5 • 7 maintain that uniformly poor results follow all such procedures. Creation of an ileal conduit has been the most satisfactory type of urinary diversion. While most studies using this procedure stress the need for early diversion and the high acceptance rate in children, 1- 10 long-term followup is showing that this procedure is not always successful in preventing the progression of upper tract changes. One study showed a 25 per cent incidence of hydronephrosis postoperatively in those children who had a normal upper tract preoperatively. 11 Intermittent catheterization, first used on spinal cord injury patients, is being used more frequently in the treatment of congenital neurogenic bladder. Lapides and associates found a high success rate with intermittent catheterization during a 3-year period12 and this method seems to be decreasing the need for urinary diversion. In regard to incidence of infection and upper tract changes, the graph of pooled data from many sources clearly shows the superiority of intermittent catheterization over Crede's maneuver, catheter drainage and urinary diversion (see table).5-7, !>-n, 13 No data are available for results of plastic revision of the bladder outlet in children with neurogenic bladders. Proper management of the urological complications of sacral agenesis requires early diagnosis and long-term followup. We stress that each of our patients reviewed herein was either diagnosed late elsewhere or followed poorly. Likewise, a battery of diagnostic studies must be undertaken to identify clearly the type and degree of neurogenic vesicopathy in each child. Early use of intermittent catheterization is encouraged
Results of therapy (combined series) Treatment
% Infection % Reflux
Crede's maneuver Catheter drainage Intermittent catheterization Ilea! conduit
72 100
Tract Changes
39 86
57-63 57
100
0-12 2-25
35-55 30-70
% Upper
and urinary diversion should be created if intermittent catheterization is not practical or if upper tract changes progress. REFERENCES
1. Shands, A. R., Jr. and Bundens, W. D.: Congenital deformities of the spine. An analysis of the roentgenograms of 700 children. Bull. Hosp. Joint Dis., 17: 110, 1956. 2. Koontz, W.W., Jr. and Prout, G. R., Jr.: Agenesis of the sacrum and the neurogenic bladder. J.A.M.A., 203: 481, 1968. 3. White, R. I. and Klauber, G. T.: Sacral agenesis. Analysis of 22 cases. Urology, 8: 521, 1976. 4. Thompson, I. M., Kirk, R. M. and Dale, M.: Sacral agenesis. Pediatrics, 54: 236, 1974. 5. Madersbacher, H.: Die urologische Betreuung von Kleinkindern mit myelomeningozele. Z. Kinderchir., 15: 427, 1974. 6. Johnston, J. H. and Farkas, A.: Congenital neuropathic bladder. Practicalities and possibilities of conservational management. Urology, 5: 719, 1975. 7. Remigailo, R. V., Lewis, E. L., Woodard, J. R. and Walton, K. N.: Ileal conduit diversion: a ten year review. Urology, 7: 343, 1976. 8. Waldbaum, R. S. and Muecke, E. C.: Management of the congenital neurogenic bladder in children. J. Urol., 108: 165, 1972. 9. Cass, A. S. and Spence, B. R.: Urinary incontinence in myelomeningocele. J. Urol., 110: 136, 1973. 10. Winemiller, J. H. and Lehman, T. H.: An 8-year urological experience in the multidisciplinary approach to the care of the meningomyelocele patient. J. Urol., 110: 138, 1973. 11. Scott, J. E.: Urinary diversion in children. Arch. Dis. Child., 48: 199, 1973. 12. Lapides, J., Diokno, A. C., Lowe, B. S. and Kalish, M. D.: Followup on unsterile, intermittent self-catheterization. J. Urol., 111: 184, 1974. 13. Herr, H. W.: Intermittent catheterization in neurogenic bladder dysfunction. J. Urol., 113: 477, 1975. EDITORIAL COMMENT As rightly stated by the authors, the resulting bladder dysfunction secondary to sacral agenesis may be subtle and delay diagnosis. Additional abnormalities in bowel function, especially constipation, and the non-infrequent correlation between sacral agenesis and maternal diabetes should be considered in the early diagnosis of this congenital anomaly. A.B.R.
THE JOURNAL OF UROLOGY
Copyright © 1979 by The Williams & Wilkins Co.
SACRAL AGENESIS: DIAGNOSIS, TREATMENT AND FOLLOWUP OF UROLOGICAL COMPLICATIONS VICTOR BRAREN*
WILLIAM B. JONES
AND
From the Section of Surgical Sciences and Department of Urology, Vanderbilt University Medical Center and Vanderbilt Children's Hospital, Nashville, Tennessee
ABSTRACT
Sacral agenesis is an uncommon congenital anomaly that usually is accompanied by other orthopedic anomalies but often occurs singularly. We report our experience in the treatment and long-term followup of 4 cases of pure sacral agenesis. We strongly stress the need for early diagnosis and long-term careful followup. In our group the diagnosis was often overlooked and followup was poor. Studies must be undertaken to determine the type and degree of neurogenic vesicopathy in each child since this may vary from one patient to the next. We urge the early and long-term use of intermittent catheterization. The incidence of sacral agenesis has been reported variously to be between 0.09 and 0.43 per cent. 1• 2 This congenital anomaly is associated frequently with other orthopedic deformities as well as urological and neurological malformations. 3 Defective development of the second to fourth sacral nerve roots leads to a neuropathic bladder. Since the degree of this defective root development is variable the resulting bladder function can be subtle. This subtlety may lead to delay in diagnosis and the development of compromised renal parenchyma. Herein we present 4 cases of pure sacral agenesis to emphasize the need for early diagnosis and long-term followup. The therapeutic modalities are examined. CASE REPORTS
Case 1. T. W., a 3½-year-old child, was seen in 1972 for evaluation of recurrent urinary tract infections. The child was the product of a 7-month gestation and the mother had diabetes. No congenital anomalies were found on the physical examination. A film of the kidneys, ureters and bladder showed sacral agenesis with a normal first segment, hypoplastic second and third segments and absent fourth and fifth segments. Radiographic studies revealed left ureterohydronephrosis and left cortical thinning, as well as left ureterovesical reflux. Cystoscopy showed marked bladder trabeculation, Lyons 2-A right ureteral orifice and 3-A left ureteral orifice. A bilateral ureteroileostomy was done because of persistently infected urine. At 4-year followup the patient had stable renal function and she has had no urinary tract infections for the last 3 years. Case 2. M. C., a 23-year-old woman, was seen in 1976 with end stage renal disease. Sacral agenesis was discovered during childhood and urinary diversion was done elsewhere when she was 9 years old for correction of renal deterioration secondary to neurogenic bladder. Renal function continued to deteriorate and hemodialysis was started when she was 21 years old. Renal transplantation was done at our center and 1 year later the patient was doing well. Case 3. C. C., a 2-year-old girl, was noted to have complete sacral agenesis while in the hospital for correction of orthopedic deformities. She was the product of a full-term gestation and the mother had diabetes. Cystoscopy revealed urethral stenosis and excretory urography (IVP) showed normal upper tracts. The patient was followed closely by the Accepted for publication July 28, 1978. * Requests for reprints: Department of Urology Vanderbilt University, Nashville, Tennessee 37232. '
urology service and was treated with repeated urethral dilatations. Bilateral vesicoureteral reflux was noted when she was 3 years old. Because of sterile urine and normal upper tracts the patient initially was treated conservatively. Because of lack of bladder control, with its attendant social problems, urinary diversion was done when she was 5 years old. The patient is now 17 years old and has normal renal function but occasional asymptomatic bacteriuria. Case 4. S. F., a 3 pound 10 ounce female newborn, was delivered after 7½ months of gestation. The mother did not have diabetes. Bilateral hip dislocations, hypoplastic L3 and absent L4, L5 and sacrum were noted at birth. When the child was 2 years old an IVP revealed normal upper tracts, urine culture was positive and she had fecal and urinary incontinence. The patient was referred to us when she was 4 years old. A repeat IVP revealed normal upper tracts. The radioisotopic glomerular filtration rate was 160 ml. per minute. She was treated with self-intermittent catheterization. At 1½-year followup the renal function was stable and the patient tolerates intermittent catheterization well with no infection. DISCUSSION
In the management of a congenital neurogenic bladder secondary to sacral agenesis there are 3 objectives: preservation of renal function, control or elimination of infection and adequate urinary continence. Obviously, the first hurdle to overcome in proper management is that of early diagnosis. Thompson and associates found in their series of sacral agenesis that there was an average lapse of 5 years between the onset of urological symptoms and the diagnosis of neurogenic bladder. 4 Koontz and Prout stressed the catastrophic results of a delayed diagnosis and recommended review or spine films in all children with unexplained vesical dysfunction of recurrent urinary tract infections. 2 After the diagnosis is made a complete evaluation should involve urine culture, IVP, voiding cystourethrography, cystoscopy, cystometrics, anal electromyography and measurement of post-void residual. Findings from these diagnostic studies will determine what type of therapy should be instituted. Since preservation of renal function means avoidance of chronic pyelonephritis and hydronephrosis the finding of dilated upper tracts, cortical thinning, significant bacteriuria, large post-void residuals or vesicoureteral reflux indicates early aggressive therapy. Even if the initial evaluation shows only a mild neurogenic bladder with low post-void residuals, long-term followup is imperative. This is highlighted by 1 study that showed that examination of children 2 years old revealed a 3-fold increase in upper tract changes and a 5-fold increase in the incidence of reflux. 5 Prevention of hydronephrosis and chronic pyelonephritis can be achieved in most patients by maneuvers that enable complete emptying of the bladder with low intravesical pressures. Incontinence, whether of the spastic or overflow type, can be improved greatly by any of the methods used to prevent upper tract changes. The treatment modalities available include the Crede maneuver, bladder training, indwelling catheter drainage, intermittent catheterization, urinary diversion and plastic revision of the bladder neck. The Crede maneuver generally is unsatisfactory because it depends on the development of high intravesical pressure for voiding and there often is incomplete emptying of the bladder. Bladder training is useful in selected cases when the child is old enough and detrusor dysfunction is mild. The complications of long-term indwelling catheter drainage have been well recorded. Various plastic revisions of the bladder outlet have been recommended highly by Johnston and Farkas, 6 while others 5 • 7 maintain that uniformly poor results follow all such procedures. Creation of an ileal conduit has been the most satisfactory type of urinary diversion. While most studies using this procedure stress the need for early diversion and the high acceptance rate in children, 1- 10 long-term followup is showing that this procedure is not always successful in preventing the progression of upper tract changes. One study showed a 25 per cent incidence of hydronephrosis postoperatively in those children who had a normal upper tract preoperatively. 11 Intermittent catheterization, first used on spinal cord injury patients, is being used more frequently in the treatment of congenital neurogenic bladder. Lapides and associates found a high success rate with intermittent catheterization during a 3-year period12 and this method seems to be decreasing the need for urinary diversion. In regard to incidence of infection and upper tract changes, the graph of pooled data from many sources clearly shows the superiority of intermittent catheterization over Crede's maneuver, catheter drainage and urinary diversion (see table).5-7, !>-n, 13 No data are available for results of plastic revision of the bladder outlet in children with neurogenic bladders. Proper management of the urological complications of sacral agenesis requires early diagnosis and long-term followup. We stress that each of our patients reviewed herein was either diagnosed late elsewhere or followed poorly. Likewise, a battery of diagnostic studies must be undertaken to identify clearly the type and degree of neurogenic vesicopathy in each child. Early use of intermittent catheterization is encouraged
Results of therapy (combined series) Treatment
% Infection % Reflux
Crede's maneuver Catheter drainage Intermittent catheterization Ilea! conduit
72 100
Tract Changes
39 86
57-63 57
100
0-12 2-25
35-55 30-70
% Upper
and urinary diversion should be created if intermittent catheterization is not practical or if upper tract changes progress. REFERENCES
1. Shands, A. R., Jr. and Bundens, W. D.: Congenital deformities of the spine. An analysis of the roentgenograms of 700 children. Bull. Hosp. Joint Dis., 17: 110, 1956. 2. Koontz, W.W., Jr. and Prout, G. R., Jr.: Agenesis of the sacrum and the neurogenic bladder. J.A.M.A., 203: 481, 1968. 3. White, R. I. and Klauber, G. T.: Sacral agenesis. Analysis of 22 cases. Urology, 8: 521, 1976. 4. Thompson, I. M., Kirk, R. M. and Dale, M.: Sacral agenesis. Pediatrics, 54: 236, 1974. 5. Madersbacher, H.: Die urologische Betreuung von Kleinkindern mit myelomeningozele. Z. Kinderchir., 15: 427, 1974. 6. Johnston, J. H. and Farkas, A.: Congenital neuropathic bladder. Practicalities and possibilities of conservational management. Urology, 5: 719, 1975. 7. Remigailo, R. V., Lewis, E. L., Woodard, J. R. and Walton, K. N.: Ileal conduit diversion: a ten year review. Urology, 7: 343, 1976. 8. Waldbaum, R. S. and Muecke, E. C.: Management of the congenital neurogenic bladder in children. J. Urol., 108: 165, 1972. 9. Cass, A. S. and Spence, B. R.: Urinary incontinence in myelomeningocele. J. Urol., 110: 136, 1973. 10. Winemiller, J. H. and Lehman, T. H.: An 8-year urological experience in the multidisciplinary approach to the care of the meningomyelocele patient. J. Urol., 110: 138, 1973. 11. Scott, J. E.: Urinary diversion in children. Arch. Dis. Child., 48: 199, 1973. 12. Lapides, J., Diokno, A. C., Lowe, B. S. and Kalish, M. D.: Followup on unsterile, intermittent self-catheterization. J. Urol., 111: 184, 1974. 13. Herr, H. W.: Intermittent catheterization in neurogenic bladder dysfunction. J. Urol., 113: 477, 1975. EDITORIAL COMMENT As rightly stated by the authors, the resulting bladder dysfunction secondary to sacral agenesis may be subtle and delay diagnosis. Additional abnormalities in bowel function, especially constipation, and the non-infrequent correlation between sacral agenesis and maternal diabetes should be considered in the early diagnosis of this congenital anomaly. A.B.R.
