Int J Colorectal Dis (2014) 29:889–890 DOI 10.1007/s00384-014-1874-2
LETTER TO THE EDITOR
Sacral neuromodulation for anorectal dysfunction secondary to congenital imperforate anus: report of two cases Ugo Grossi & Emma V. Carrington & S Mark Scott & Charles H. Knowles
Accepted: 14 April 2014 / Published online: 29 April 2014 # Springer-Verlag Berlin Heidelberg 2014
Dear Editor Sacral neuromodulation (SNM) is an effective treatment for faecal incontinence (FI) [1]. So far, there has been only one published report investigating its use in patients with FI secondary to a low anorectal congenital malformation [2]. We report the results of SNM to treat bowel dysfunction in two patients with a history of surgically repaired congenital imperforate anus. Patient 1 was a 34-year-old nulliparous female, born with an imperforate anus. This was treated with a posterior sagittal anorectoplasty during childhood. She reported lifelong symptoms of infrequent defaecation (one bowel movement per week) with overflowing FI due to coexistent evacuation dysfunction secondary to a hyposensate megarectum (maximum tolerable volume [MTV] to balloon distension >360 ml). At the age of 32, she underwent vertical reduction rectoplasty (VRR) which was unsuccessful. Anorectal physiological testing post-operatively demonstrated normal anal resting tone (59 cm H2O) but markedly attenuated incremental squeeze pressure (16 cm H2O), which were unchanged from preoperative values. However, rectal sensory thresholds and rectal compliance were improved compared to pre-VRR values (MTV 300 ml). Nevertheless, proctography still demonstrated protracted rectal evacuation secondary to poor defaecation dynamics. Her St. Mark’s FI score was 9 and Cleveland Clinic constipation score was 24. Patient 2 was a 33-year-old male, born with vertebral anomalies, anal atresia, cardiac malformations, tracheoesophageal fistula, renal anomalies, and limb abnormalities (VACTERL) association; an imperforate anus; tetralogy of U. Grossi (*) : E. V. Carrington : S. M. Scott : C. H. Knowles National Centre for Bowel Research and Surgical Innovation (NCRBSI) and GI Physiology Unit, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, 1st Floor Abernethy Building, 2 Newark Street, London E1 2AT, UK e-mail: [email protected]
Fallot; and renal dysplasia. He had undergone a coloanal pull-through procedure as an infant and renal transplantation at the age of 16. Since infancy, he suffered from faecal urgency and associated urge incontinence, with the ability to defer defaecation significantly reduced (few seconds). He also complained of passive faecal leakage. His St. Mark’s FI score was 20. Anorectal physiological testing showed attenuated anal resting tone and squeeze pressures consistent with structurally compromised anal sphincters and bilateral pudendal neuropathy. Proctography demonstrated ineffective rectal emptying due to poor defaecatory dynamics. Nevertheless, on radiology, the neo-rectum showed a narrow maximum diameter suggesting deficient ‘reservoir’ function, with instilled contrast progressing up to 16 cm from the anorectal junction. Pre-operative conventional sacral X-ray showed no anatomical abnormalities in either patient. Test stimulation was performed using a unipolar lead for patient 1 (Interstim 30576SC; Medtronic Inc., Minneapolis, MN, USA) and a quadripolar lead for patient 2 (Interstim 3889–28 cm; Medtronic Inc.). In both patients, the correct position of the lead tip was assessed under fluoroscopic guidance, confirmed by the presence of good objective motor responses (bellows and/or great toe flexion) and the subjective sensory report from the patients (tapping or vibrating sensation in the vagina, rectum, and/or scrotum). The leads were then connected to an external pulse generator. After the temporary stimulation period (2 weeks for patient 1 and 6 weeks for patient 2), patient 1 showed an improvement in constipation reporting more than two bowel movements per week. Moreover, both patients showed a decrease of at least 50 % in the number of FI episodes. Both progressed to permanent SNM (implantation of a sacral nerve pulse generator [Medtronic Interstim model 3023] in patient 1; removal of the percutaneous extension [Medtronic Interstim model 3095] before placement of the pulse generator in patient 2).
890
One month after the permanent device was implanted, patient 1 showed a significantly and objectively improved evacuatory function, along with a reduction in MTV to balloon distension. Furthermore, her St. Mark’s FI and Cleveland Clinic constipation scores decreased by 4 and 12 points, respectively. Patient 2 reported that ability to defer defaecation had increased from less than 1 to 15 min. His St. Mark’s FI score reduced from 20 to 7. At 79 months’ follow-up, patient 1 showed clinical response equal to that achieved during temporary stimulation. Unfortunately, 12 months after implantation, patient 2 underwent removal of the tined lead due to chronic pain and infection at the site of the pulse generator. Anorectal congenital malformations occur in 1/4,000– 5,000 live births with a greater incidence in males and impaired long-term bowel function in one-third of children [3]. Patients with imperforate anus may develop constipation secondary to megarectum following coloanal pull-through procedures. To the best of our knowledge, the use of SNM in such a case has never been reported. As a rationale for treatment, SNM has been shown to be effective in adult patients with chronic constipation secondary to evacuatory dysfunction with rectal hyposensitivity [4]. This was substantial in patient 1, where both evacuatory function and rectal sensation were seen to be improved. So far, only one report has described the efficacy of SNM to treat FI in two patients born with an imperforate anus [2]. Test stimulation was deemed successful only in one patient warranting implantation of a permanent lead, but technical difficulties were encountered in both cases owing to the partial sacral agenesis. Conversely, both patients in our study showed a normal sacral anatomy and substantial clinical improvement after SNM. Although high frequencies of other anomalies (such as VACTERL association and Currarino triad) may accompany anorectal malformations (e.g. up to 14 % of subjects with low anorectal malformations have been showed to
Int J Colorectal Dis (2014) 29:889–890
have associated skeletal abnormalities), both our patients showed no obvious bony anomalies, which would likely have jeopardized the success of SNM. Finally, in patients with idiopathic FI, several clinical factors (i.e. male gender, advanced age, concomitant medical comorbidities, and longer duration of symptoms) have been suggested to decrease the success rate of SNM. In these situations, the accuracy of placement and the efficacy of nerve stimulation during the temporary trial could be increased using quadripolar rather than unipolar leads. Recent studies on SNM quote an infection rate ranging from 3 to 17 %. Apart from the well-known risk factors for infections (obesity, tobacco use, diabetes, immunosuppression, malnutrition, and coagulopathy), the only other risk factor identified was a longer operative time for permanent implantation. Conflict of interest The authors have no conflict of interest to declare.
References 1. George AT, Kalmar K, Panarese A, Dudding TC, Nicholls RJ, Vaizey CJ (2012) Long-term outcomes of sacral nerve stimulation for fecal incontinence. Dis Colon Rectum 55:302–306 2. Thomas GP, Nicholls RJ, Vaizey CJ (2013) Sacral nerve stimulation for faecal incontinence secondary to congenital imperforate anus. Tech Coloproctol 17(2):227–9. doi:10.1007/s10151-012-0914-6 3. Athanasakos EP, Kemal KI, Malliwal RS, Scott SM, Williams NS, Aziz Q, Ward HC, Knowles CH (2013) Clinical and psychosocial functioning in adolescents and young adults with anorectal malformations and chronic idiopathic constipation. Br J Surg 100(6): 832–9. doi:10.1002/bjs.9111 4. Knowles CH, Thin N, Gill K, Bhan C, Grimmer K, Lunniss PJ, Williams NS, Scott SM (2012) Prospective randomized double-blind study of temporary sacral nerve stimulation in patients with rectal evacuatory dysfunction and rectal hyposensitivity. Ann Surg 255(4): 643–9. doi:10.1097/SLA.0b013e318247d49f
LETTER TO THE EDITOR
Sacral neuromodulation for anorectal dysfunction secondary to congenital imperforate anus: report of two cases Ugo Grossi & Emma V. Carrington & S Mark Scott & Charles H. Knowles
Accepted: 14 April 2014 / Published online: 29 April 2014 # Springer-Verlag Berlin Heidelberg 2014
Dear Editor Sacral neuromodulation (SNM) is an effective treatment for faecal incontinence (FI) [1]. So far, there has been only one published report investigating its use in patients with FI secondary to a low anorectal congenital malformation [2]. We report the results of SNM to treat bowel dysfunction in two patients with a history of surgically repaired congenital imperforate anus. Patient 1 was a 34-year-old nulliparous female, born with an imperforate anus. This was treated with a posterior sagittal anorectoplasty during childhood. She reported lifelong symptoms of infrequent defaecation (one bowel movement per week) with overflowing FI due to coexistent evacuation dysfunction secondary to a hyposensate megarectum (maximum tolerable volume [MTV] to balloon distension >360 ml). At the age of 32, she underwent vertical reduction rectoplasty (VRR) which was unsuccessful. Anorectal physiological testing post-operatively demonstrated normal anal resting tone (59 cm H2O) but markedly attenuated incremental squeeze pressure (16 cm H2O), which were unchanged from preoperative values. However, rectal sensory thresholds and rectal compliance were improved compared to pre-VRR values (MTV 300 ml). Nevertheless, proctography still demonstrated protracted rectal evacuation secondary to poor defaecation dynamics. Her St. Mark’s FI score was 9 and Cleveland Clinic constipation score was 24. Patient 2 was a 33-year-old male, born with vertebral anomalies, anal atresia, cardiac malformations, tracheoesophageal fistula, renal anomalies, and limb abnormalities (VACTERL) association; an imperforate anus; tetralogy of U. Grossi (*) : E. V. Carrington : S. M. Scott : C. H. Knowles National Centre for Bowel Research and Surgical Innovation (NCRBSI) and GI Physiology Unit, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, 1st Floor Abernethy Building, 2 Newark Street, London E1 2AT, UK e-mail: [email protected]
Fallot; and renal dysplasia. He had undergone a coloanal pull-through procedure as an infant and renal transplantation at the age of 16. Since infancy, he suffered from faecal urgency and associated urge incontinence, with the ability to defer defaecation significantly reduced (few seconds). He also complained of passive faecal leakage. His St. Mark’s FI score was 20. Anorectal physiological testing showed attenuated anal resting tone and squeeze pressures consistent with structurally compromised anal sphincters and bilateral pudendal neuropathy. Proctography demonstrated ineffective rectal emptying due to poor defaecatory dynamics. Nevertheless, on radiology, the neo-rectum showed a narrow maximum diameter suggesting deficient ‘reservoir’ function, with instilled contrast progressing up to 16 cm from the anorectal junction. Pre-operative conventional sacral X-ray showed no anatomical abnormalities in either patient. Test stimulation was performed using a unipolar lead for patient 1 (Interstim 30576SC; Medtronic Inc., Minneapolis, MN, USA) and a quadripolar lead for patient 2 (Interstim 3889–28 cm; Medtronic Inc.). In both patients, the correct position of the lead tip was assessed under fluoroscopic guidance, confirmed by the presence of good objective motor responses (bellows and/or great toe flexion) and the subjective sensory report from the patients (tapping or vibrating sensation in the vagina, rectum, and/or scrotum). The leads were then connected to an external pulse generator. After the temporary stimulation period (2 weeks for patient 1 and 6 weeks for patient 2), patient 1 showed an improvement in constipation reporting more than two bowel movements per week. Moreover, both patients showed a decrease of at least 50 % in the number of FI episodes. Both progressed to permanent SNM (implantation of a sacral nerve pulse generator [Medtronic Interstim model 3023] in patient 1; removal of the percutaneous extension [Medtronic Interstim model 3095] before placement of the pulse generator in patient 2).
890
One month after the permanent device was implanted, patient 1 showed a significantly and objectively improved evacuatory function, along with a reduction in MTV to balloon distension. Furthermore, her St. Mark’s FI and Cleveland Clinic constipation scores decreased by 4 and 12 points, respectively. Patient 2 reported that ability to defer defaecation had increased from less than 1 to 15 min. His St. Mark’s FI score reduced from 20 to 7. At 79 months’ follow-up, patient 1 showed clinical response equal to that achieved during temporary stimulation. Unfortunately, 12 months after implantation, patient 2 underwent removal of the tined lead due to chronic pain and infection at the site of the pulse generator. Anorectal congenital malformations occur in 1/4,000– 5,000 live births with a greater incidence in males and impaired long-term bowel function in one-third of children [3]. Patients with imperforate anus may develop constipation secondary to megarectum following coloanal pull-through procedures. To the best of our knowledge, the use of SNM in such a case has never been reported. As a rationale for treatment, SNM has been shown to be effective in adult patients with chronic constipation secondary to evacuatory dysfunction with rectal hyposensitivity [4]. This was substantial in patient 1, where both evacuatory function and rectal sensation were seen to be improved. So far, only one report has described the efficacy of SNM to treat FI in two patients born with an imperforate anus [2]. Test stimulation was deemed successful only in one patient warranting implantation of a permanent lead, but technical difficulties were encountered in both cases owing to the partial sacral agenesis. Conversely, both patients in our study showed a normal sacral anatomy and substantial clinical improvement after SNM. Although high frequencies of other anomalies (such as VACTERL association and Currarino triad) may accompany anorectal malformations (e.g. up to 14 % of subjects with low anorectal malformations have been showed to
Int J Colorectal Dis (2014) 29:889–890
have associated skeletal abnormalities), both our patients showed no obvious bony anomalies, which would likely have jeopardized the success of SNM. Finally, in patients with idiopathic FI, several clinical factors (i.e. male gender, advanced age, concomitant medical comorbidities, and longer duration of symptoms) have been suggested to decrease the success rate of SNM. In these situations, the accuracy of placement and the efficacy of nerve stimulation during the temporary trial could be increased using quadripolar rather than unipolar leads. Recent studies on SNM quote an infection rate ranging from 3 to 17 %. Apart from the well-known risk factors for infections (obesity, tobacco use, diabetes, immunosuppression, malnutrition, and coagulopathy), the only other risk factor identified was a longer operative time for permanent implantation. Conflict of interest The authors have no conflict of interest to declare.
References 1. George AT, Kalmar K, Panarese A, Dudding TC, Nicholls RJ, Vaizey CJ (2012) Long-term outcomes of sacral nerve stimulation for fecal incontinence. Dis Colon Rectum 55:302–306 2. Thomas GP, Nicholls RJ, Vaizey CJ (2013) Sacral nerve stimulation for faecal incontinence secondary to congenital imperforate anus. Tech Coloproctol 17(2):227–9. doi:10.1007/s10151-012-0914-6 3. Athanasakos EP, Kemal KI, Malliwal RS, Scott SM, Williams NS, Aziz Q, Ward HC, Knowles CH (2013) Clinical and psychosocial functioning in adolescents and young adults with anorectal malformations and chronic idiopathic constipation. Br J Surg 100(6): 832–9. doi:10.1002/bjs.9111 4. Knowles CH, Thin N, Gill K, Bhan C, Grimmer K, Lunniss PJ, Williams NS, Scott SM (2012) Prospective randomized double-blind study of temporary sacral nerve stimulation in patients with rectal evacuatory dysfunction and rectal hyposensitivity. Ann Surg 255(4): 643–9. doi:10.1097/SLA.0b013e318247d49f
