Caudal Duplication Syndrome
A
full-term healthy female newborn presented with perineal abnormalities in the delivery room. The mother had undergone a fetal ultrasound scan at 24 weeks’ gestation, and hemivertebrae with a double bladder were identified. Perineal examination (Figure 1) showed two vaginal openings, two urethral meatus, and a normal anus. Meconium was coming out of a fistula located next to the right vagina. Contrast enema through both the rectum and fistula confirmed complete colorectal duplication (Figure 2; available at www.jpeds.com). Retrograde cysto-urethrogram of each urethral opening showed two independent hemi-bladders and a grade III left vesicoureteral reflux (Figure 3; available at www.jpeds.com). Cystoscopy confirmed complete bladder and urethral duplication, with two normal bladder necks, whereas vaginoscopy revealed two vaginas with a normal uterine cervix. When the child was 6 weeks of age, a laparotomy was performed. Intestinal duplication consisted of two rectums, two colons, two appendixes and two terminal ileum up to a single
Meckel diverticulum. The perineal fistula and Meckel diverticulum were resected, and the duplicated colon was terminally anastomosed to the normal rectum. The child had an uneventful recovery. No surgery was performed for the urinary duplication. At 5 years of age, the child’s fecal and urinary continence was normal, with voiding by two independent and nonsynchronized bladders. Early embryological disorder involving midgut, hindgut, and lower genitourinary tract development resulted in this complex and yet symmetrical malformation. Several theories have been put forward to explain the myriad of gastrointestinal tract duplications and the diverse forms of pelvic malformations. This case illustrates a complex mixture of altered differentiation of the cloaca with a disrupted caudal split of notochord. For a proper neonatal management, it is paramount to establish precise anatomical chart using clinical examination, contrast studies, or magnetic resonance imaging. Perineal examination and endoscopy under general anesthesia are often necessary. Surgical management has to be adapted to each case. Surgery aims to achieve the best functional result rather than restore usual anatomy. In our case, priority was given to the closure of the perineal intestinal fistula. Main objective during management is to preserve fecal and urinary continence while protecting the upper urinary tract (either from infection or obstruction). Even though a highly complex anatomical situation may be observed, our case illustrates that satisfactory functional results can be obtained. n
Yann Chaussy, MD Department of Pediatric Surgery
Nicolas Mottet, MD Department of Gynecology and Obstetrics
Figure 1. Perineal examination reveals two vaginal openings (V1 and V2), two urethral meatus (U1 and U2), and a normal anus (A). Meconium is coming out of a fistula (F) located next to the right vagina.
J Pediatr 2015;166:772. 0022-3476/$ - see front matter. Copyright ª 2015 Elsevier Inc. All rights reserved. http://dx.doi.org/10.1016/j.jpeds.2014.11.035
772
Didier Aubert, MD, PhD Frederic Auber, MD, PhD Department of Pediatric Surgery CHU Jean Minjoz Universite de Franche-Comte Besanc¸on, France
Vol. 166, No. 3 March 2015
Figure 2. Contrast enema through both the rectum and fistula confirms complete colorectal duplication.
Figure 3. Retrograde cysto-urethrogram of each urethral opening shows two independent hemi-bladders and a grade III left vesicoureteral reflux.
772.e1
A
full-term healthy female newborn presented with perineal abnormalities in the delivery room. The mother had undergone a fetal ultrasound scan at 24 weeks’ gestation, and hemivertebrae with a double bladder were identified. Perineal examination (Figure 1) showed two vaginal openings, two urethral meatus, and a normal anus. Meconium was coming out of a fistula located next to the right vagina. Contrast enema through both the rectum and fistula confirmed complete colorectal duplication (Figure 2; available at www.jpeds.com). Retrograde cysto-urethrogram of each urethral opening showed two independent hemi-bladders and a grade III left vesicoureteral reflux (Figure 3; available at www.jpeds.com). Cystoscopy confirmed complete bladder and urethral duplication, with two normal bladder necks, whereas vaginoscopy revealed two vaginas with a normal uterine cervix. When the child was 6 weeks of age, a laparotomy was performed. Intestinal duplication consisted of two rectums, two colons, two appendixes and two terminal ileum up to a single
Meckel diverticulum. The perineal fistula and Meckel diverticulum were resected, and the duplicated colon was terminally anastomosed to the normal rectum. The child had an uneventful recovery. No surgery was performed for the urinary duplication. At 5 years of age, the child’s fecal and urinary continence was normal, with voiding by two independent and nonsynchronized bladders. Early embryological disorder involving midgut, hindgut, and lower genitourinary tract development resulted in this complex and yet symmetrical malformation. Several theories have been put forward to explain the myriad of gastrointestinal tract duplications and the diverse forms of pelvic malformations. This case illustrates a complex mixture of altered differentiation of the cloaca with a disrupted caudal split of notochord. For a proper neonatal management, it is paramount to establish precise anatomical chart using clinical examination, contrast studies, or magnetic resonance imaging. Perineal examination and endoscopy under general anesthesia are often necessary. Surgical management has to be adapted to each case. Surgery aims to achieve the best functional result rather than restore usual anatomy. In our case, priority was given to the closure of the perineal intestinal fistula. Main objective during management is to preserve fecal and urinary continence while protecting the upper urinary tract (either from infection or obstruction). Even though a highly complex anatomical situation may be observed, our case illustrates that satisfactory functional results can be obtained. n
Yann Chaussy, MD Department of Pediatric Surgery
Nicolas Mottet, MD Department of Gynecology and Obstetrics
Figure 1. Perineal examination reveals two vaginal openings (V1 and V2), two urethral meatus (U1 and U2), and a normal anus (A). Meconium is coming out of a fistula (F) located next to the right vagina.
J Pediatr 2015;166:772. 0022-3476/$ - see front matter. Copyright ª 2015 Elsevier Inc. All rights reserved. http://dx.doi.org/10.1016/j.jpeds.2014.11.035
772
Didier Aubert, MD, PhD Frederic Auber, MD, PhD Department of Pediatric Surgery CHU Jean Minjoz Universite de Franche-Comte Besanc¸on, France
Vol. 166, No. 3 March 2015
Figure 2. Contrast enema through both the rectum and fistula confirms complete colorectal duplication.
Figure 3. Retrograde cysto-urethrogram of each urethral opening shows two independent hemi-bladders and a grade III left vesicoureteral reflux.
772.e1
