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Tubular colonic duplication in a patient with classical neurofibromatosis
CASE REPORTS
655
Clinical Radiology (1994) 49, 655 657
Case Report: Tubular Colonic Duplication in a Patient With Classical Neurofibromatosis T. H. PELS RIJCKEN, T. A. VAN DORP and G. AP A. G. DAVIES
Department of Radiology, Sint Lucas Hospital, Amsterdam, The Netherlands We report a tubular colonic duplication associated with classical neurofibromatosis, diagnosed radiologically, and discuss the anatomical and clinical features of colonic duplication. Pels Rijcken, T.H., Van Dorp, T.A. & Davies, G. ap A.G. (1994). Clinical Radiology 49, 655657. Case Report: Tubular Colonic Duplication in a Patient With Classical Neurofibromatosis
Colonic duplication is a rare congenital anomaly. It is usually diagnosed in the first 2 years of life at operation or autopsy. Duplication of the colon is often associated with other malformations, particularly in the genitourinary tract, lumbar spine and pelvis. An adult with classical neurofibromatosis is described, who was shown to have complete tubular colonic duplication. To our knowledge no association between these two conditions has previously been reported. CASE REPORT A 39-year-old Caucasian woman presented with a recurrent perianal abscess. Sacral spina bifida was corrected at the age of 1 and 3. A laparoscopic sterilization was performed in her 30th year and no abnormalities were seen in the internal genital organs or bladder. The diagnosis of classic neurofibromatosis had been made when she was 29 years of age, based on the presence of multiple caf+-au-lait spots, axillary freckling and numerous cutaneous and subcutaneous neurofibromas. A standard double contrast barium enema (DCBE) was performed for the investigation of her recurrent perianal abscess. Complete tubular duplication o f the colon was shown. In the transverse colon the two lumina were separated by a thin septum. The ascending colon and sigmoid colon appeared to be completely separated. There was only one appendix. Proximal and distal communication were respectively at the ileocaecal valve and directly above the anal sphincter (Figs 1 and 2). Sigmoidoscopy to 35 cm showed two lumina of normal appearance, both containing faecal material (Fig. 3). No evidence o f fistula or intestinal neurofibromatosis was found. A previous intravenous urogram had shown a large left kidney with ureteric duplication, and a smaller mono-ureteric right kidney. Plain films of the spine showed thoracolumbar kyphoscoliosis and a hemivertebra at S1. Computed tomography of the abdomen revealed no additional abnormalities.
DISCUSSION Duplication of the gastrointestinal tract is a rare congenital anomaly which was first described by Blasius [1] in 1677. Colonic duplication, in a variety of forms, has been described in some 65 patients and colonic triplication in two patients [2,3]. Kottra's classification system of colonic duplication is shown in Table 1 and Fig. 4 [4,5]. Our patient had type Icl colonic duplication. The most frequent symptoms and signs of colonic Correspondence to: Dr G. ap A. G. Davies, Department of Radiology, Sint Lucas Ziekenhuis, Jan Tooropstraat 164, 1061 A E Amsterdam, The Netherlands.
duplication are abdominal pain, constipation and intestinal obstruction. Other features such as abdominal mass, anal prolapse, haemorrhage, intussusception, perforation and malignancy are rarer [6,7]. Although heterotopic lining is reported in 18-50% of enteric duplication, heterotopia has not been found in tubular colonic duplication [7]. Frequently, colonic duplication has associated anomalies, especially in the genito-urinary tract [4]. In a collective review by Yousefzadeh et al. [8], 80% of the patients had anomalies involving at least one other organ system and in 55% of cases at least three systems were affected. However, to our knowledge, colonic duplication has never before been associated with neurofibromatosis. A clinical diagnosis of colonic duplication is rarely made, possibly due to unfamiliarity with the syndrome. In our patient a previous barium enema had been reported as normal. Careful examination of the perineum may give valuable information about colonic duplication and associated anomalies. For instance, one or more anal orifices, dimpling, fistulae and other urogenital malformations may be seen. Barium enema is the procedure of choice for making the diagnosis and for assessing the morphology of a duplication. Demonstration of the point of communication is often achieved only in post-evacuation radiography. An antegrade small bowel examination should be considered if there is inadequate ileocaecal reflux during the barium enema to permit detection of a Meckel's diverticulum or ileal duplication, both of which have a higher prevalence in association with colonic duplication [4]. Because of the possibility of multiple malformations occurring with colonic duplication, full clinical and radiological evaluation of the colon, small intestine, lumbar spine, pelvis and genito-urinary tract is advised [8]. The differential diagnosis of tubular long segment duplication includes redundant colon and colonic malrotation. In forms of minor duplication, the first differential diagnosis is giant diverticulum of the colon [9]. This entity affects mainly the sigmoid colon and there is almost always evidence of diverticular disease elsewhere in the colon. Conservative management is appropriate for tubular colonic duplications with minimal symptomatology. However, if surgery is envisaged, it should be as limited
656
CLINICAL RADIOLOGY Table 1 - Classification o f colonic duplications
Type I
Duplication limited to alimentary tract, with or without communication. (a) Spherical (b) Tubular (c) Double-barrelled; one or more communications with colon (1) Limited to colon (2) Associated ileal duplication (d) Multiple duplications; combinations of a, b and c
II*
Usually entire double-barrelled colonic duplication with proximal communication associated with duplication of the lower genito-urinary tract. (a) Two separate anuses Associated with double genitals and double urethra or bladder (b) Duplication with fistula The distal portion of one or both duplicates having a fistula to the vagina, urinary bladder or perineum. Most with double genitals, some with lower urinary tract duplications (c) Imperforate anus One or both duplicates end blindly in the pelvis. With duplications of the lower urinary tract, usually single genitalia
Fig. 1 - Barium enema examination showing tubular duplication of the colon.
* Modified from Smith (1969).
as p o s s i b l e [3,10]. I n o u r p a t i e n t t h e r e c u r r e n t p e r i a n a l abscess could not be attributed to the colonic duplication, nor to the neurofibromatosis. Because of the lack of s y m p t o m s , as o n e c o u l d e x p e c t i n t y p e I c l c o l o n d u p l i c a tion, management has been conservative.
Ila
Type la,b, cl and 2
Fig. 2 - Diagrammatic representation of patient's standard double contrast barium enema. DAC, Double ascending colon; DDC, double descending colon; DS, double sigmoid; A1, anus 1; A2, anus 2.
C1 ,
r
,
b
.% Fig. 3 - Sigmoidoscopy showing the distal recommunication and duplicated rectal and sigmoid lumina.
Fig. 4 - Diagrammatic representation of colonic duplications. A, Anus; B, bladder; V, vagina; U, uterus; F, fistula.
CASE REPORTS REFERENCES 1 Blasius G. Morbos in numero continens. In: Observationes medicae
2 3 4 5 6
rariores. Amstelodami: Abr. Wolfgang, 1677:47-61. Gray AW. Triplication of large intestine. Archives of Pathology 1940;30:1215-1222. Ravitch MM. Hind gut duplication: doubling of colon and genital urinary tracts. Annals of Surgery 1953; 137:588-601. Kottra J J, Dodds WJ. Duplication of the large bowel. American Journal of Roentgenology 1971;113:310 315. Smith ED. Duplication of the anus and genitourinary tract. Surgery 1969;66:909-921. Hickey WF, Corson JM. Squamous cell carcinoma arising in a duplication of the colon: case report and literature review of
7 8 9 10
657
squamous cell carcinoma of the colon and malignancy complicating colonic duplication. Cancer 1981;47:602-609. Ryckman FC, Glenn JD, Moazam F. Spontaneous perforation of a colonic duplication. Diseases of the Colon and Rectum 1983;26:287289. Yousefzadeh DK, Bickers GH, Jackson JH Jr et al. Tubular colonic duplication - review of 1876-1981 literature. Pediatric Radiology 1983;13:65 71. Kricun R, Stasik JJ, Reither RD et al. Giant colonic diverticulum. American Journal of Roentgenology 1980;135:507-512. Holcomb GW III, Gheissari A, O'Neill JA Jr et al. Surgical management of alimentary tract duplications. Annals of Surgery 1989;209:167 174.
655
Clinical Radiology (1994) 49, 655 657
Case Report: Tubular Colonic Duplication in a Patient With Classical Neurofibromatosis T. H. PELS RIJCKEN, T. A. VAN DORP and G. AP A. G. DAVIES
Department of Radiology, Sint Lucas Hospital, Amsterdam, The Netherlands We report a tubular colonic duplication associated with classical neurofibromatosis, diagnosed radiologically, and discuss the anatomical and clinical features of colonic duplication. Pels Rijcken, T.H., Van Dorp, T.A. & Davies, G. ap A.G. (1994). Clinical Radiology 49, 655657. Case Report: Tubular Colonic Duplication in a Patient With Classical Neurofibromatosis
Colonic duplication is a rare congenital anomaly. It is usually diagnosed in the first 2 years of life at operation or autopsy. Duplication of the colon is often associated with other malformations, particularly in the genitourinary tract, lumbar spine and pelvis. An adult with classical neurofibromatosis is described, who was shown to have complete tubular colonic duplication. To our knowledge no association between these two conditions has previously been reported. CASE REPORT A 39-year-old Caucasian woman presented with a recurrent perianal abscess. Sacral spina bifida was corrected at the age of 1 and 3. A laparoscopic sterilization was performed in her 30th year and no abnormalities were seen in the internal genital organs or bladder. The diagnosis of classic neurofibromatosis had been made when she was 29 years of age, based on the presence of multiple caf+-au-lait spots, axillary freckling and numerous cutaneous and subcutaneous neurofibromas. A standard double contrast barium enema (DCBE) was performed for the investigation of her recurrent perianal abscess. Complete tubular duplication o f the colon was shown. In the transverse colon the two lumina were separated by a thin septum. The ascending colon and sigmoid colon appeared to be completely separated. There was only one appendix. Proximal and distal communication were respectively at the ileocaecal valve and directly above the anal sphincter (Figs 1 and 2). Sigmoidoscopy to 35 cm showed two lumina of normal appearance, both containing faecal material (Fig. 3). No evidence o f fistula or intestinal neurofibromatosis was found. A previous intravenous urogram had shown a large left kidney with ureteric duplication, and a smaller mono-ureteric right kidney. Plain films of the spine showed thoracolumbar kyphoscoliosis and a hemivertebra at S1. Computed tomography of the abdomen revealed no additional abnormalities.
DISCUSSION Duplication of the gastrointestinal tract is a rare congenital anomaly which was first described by Blasius [1] in 1677. Colonic duplication, in a variety of forms, has been described in some 65 patients and colonic triplication in two patients [2,3]. Kottra's classification system of colonic duplication is shown in Table 1 and Fig. 4 [4,5]. Our patient had type Icl colonic duplication. The most frequent symptoms and signs of colonic Correspondence to: Dr G. ap A. G. Davies, Department of Radiology, Sint Lucas Ziekenhuis, Jan Tooropstraat 164, 1061 A E Amsterdam, The Netherlands.
duplication are abdominal pain, constipation and intestinal obstruction. Other features such as abdominal mass, anal prolapse, haemorrhage, intussusception, perforation and malignancy are rarer [6,7]. Although heterotopic lining is reported in 18-50% of enteric duplication, heterotopia has not been found in tubular colonic duplication [7]. Frequently, colonic duplication has associated anomalies, especially in the genito-urinary tract [4]. In a collective review by Yousefzadeh et al. [8], 80% of the patients had anomalies involving at least one other organ system and in 55% of cases at least three systems were affected. However, to our knowledge, colonic duplication has never before been associated with neurofibromatosis. A clinical diagnosis of colonic duplication is rarely made, possibly due to unfamiliarity with the syndrome. In our patient a previous barium enema had been reported as normal. Careful examination of the perineum may give valuable information about colonic duplication and associated anomalies. For instance, one or more anal orifices, dimpling, fistulae and other urogenital malformations may be seen. Barium enema is the procedure of choice for making the diagnosis and for assessing the morphology of a duplication. Demonstration of the point of communication is often achieved only in post-evacuation radiography. An antegrade small bowel examination should be considered if there is inadequate ileocaecal reflux during the barium enema to permit detection of a Meckel's diverticulum or ileal duplication, both of which have a higher prevalence in association with colonic duplication [4]. Because of the possibility of multiple malformations occurring with colonic duplication, full clinical and radiological evaluation of the colon, small intestine, lumbar spine, pelvis and genito-urinary tract is advised [8]. The differential diagnosis of tubular long segment duplication includes redundant colon and colonic malrotation. In forms of minor duplication, the first differential diagnosis is giant diverticulum of the colon [9]. This entity affects mainly the sigmoid colon and there is almost always evidence of diverticular disease elsewhere in the colon. Conservative management is appropriate for tubular colonic duplications with minimal symptomatology. However, if surgery is envisaged, it should be as limited
656
CLINICAL RADIOLOGY Table 1 - Classification o f colonic duplications
Type I
Duplication limited to alimentary tract, with or without communication. (a) Spherical (b) Tubular (c) Double-barrelled; one or more communications with colon (1) Limited to colon (2) Associated ileal duplication (d) Multiple duplications; combinations of a, b and c
II*
Usually entire double-barrelled colonic duplication with proximal communication associated with duplication of the lower genito-urinary tract. (a) Two separate anuses Associated with double genitals and double urethra or bladder (b) Duplication with fistula The distal portion of one or both duplicates having a fistula to the vagina, urinary bladder or perineum. Most with double genitals, some with lower urinary tract duplications (c) Imperforate anus One or both duplicates end blindly in the pelvis. With duplications of the lower urinary tract, usually single genitalia
Fig. 1 - Barium enema examination showing tubular duplication of the colon.
* Modified from Smith (1969).
as p o s s i b l e [3,10]. I n o u r p a t i e n t t h e r e c u r r e n t p e r i a n a l abscess could not be attributed to the colonic duplication, nor to the neurofibromatosis. Because of the lack of s y m p t o m s , as o n e c o u l d e x p e c t i n t y p e I c l c o l o n d u p l i c a tion, management has been conservative.
Ila
Type la,b, cl and 2
Fig. 2 - Diagrammatic representation of patient's standard double contrast barium enema. DAC, Double ascending colon; DDC, double descending colon; DS, double sigmoid; A1, anus 1; A2, anus 2.
C1 ,
r
,
b
.% Fig. 3 - Sigmoidoscopy showing the distal recommunication and duplicated rectal and sigmoid lumina.
Fig. 4 - Diagrammatic representation of colonic duplications. A, Anus; B, bladder; V, vagina; U, uterus; F, fistula.
CASE REPORTS REFERENCES 1 Blasius G. Morbos in numero continens. In: Observationes medicae
2 3 4 5 6
rariores. Amstelodami: Abr. Wolfgang, 1677:47-61. Gray AW. Triplication of large intestine. Archives of Pathology 1940;30:1215-1222. Ravitch MM. Hind gut duplication: doubling of colon and genital urinary tracts. Annals of Surgery 1953; 137:588-601. Kottra J J, Dodds WJ. Duplication of the large bowel. American Journal of Roentgenology 1971;113:310 315. Smith ED. Duplication of the anus and genitourinary tract. Surgery 1969;66:909-921. Hickey WF, Corson JM. Squamous cell carcinoma arising in a duplication of the colon: case report and literature review of
7 8 9 10
657
squamous cell carcinoma of the colon and malignancy complicating colonic duplication. Cancer 1981;47:602-609. Ryckman FC, Glenn JD, Moazam F. Spontaneous perforation of a colonic duplication. Diseases of the Colon and Rectum 1983;26:287289. Yousefzadeh DK, Bickers GH, Jackson JH Jr et al. Tubular colonic duplication - review of 1876-1981 literature. Pediatric Radiology 1983;13:65 71. Kricun R, Stasik JJ, Reither RD et al. Giant colonic diverticulum. American Journal of Roentgenology 1980;135:507-512. Holcomb GW III, Gheissari A, O'Neill JA Jr et al. Surgical management of alimentary tract duplications. Annals of Surgery 1989;209:167 174.