Life-threatening anomalies of the thoracic duct: anatomic delineation dictates management.

Congenital anomalies of the thoracic duct are rare, poorly characterized, and difficult to manage. The spectrum of pathophysiologic perturbations, presenting symptoms, radiographic findings, and interventions performed in 4 patients are shown. Accurate anatomic delineation of the malformation was only possible by direct injection contrast lymphangiography. Therapies tailored to address the anatomic aberrations included intralesional sclerotherapy, surgical excision and ligation, lymphovenous anastomosis, and omental interposition to interrupt dysfunctional collateral lymphatics to the lung. Accurate anatomic diagnosis of central lymphatic channel anomalies by contrast lymphangiography facilitates an individualized multidisciplinary approach to repair.

Construction of female urethra using buccal mucosa graft.

PURPOSE: We reviewed our experience with buccal mucosa grafts for reconstructing difficult female urethral problems. METHODS AND METHODS: Since 1994, we have used a buccal mucosa graft to reconstruct the urethra in 7 girls 3 to 13 years old. The underlying pathological condition was a fibrotic urethra after previous operations for cloacal exstrophy, cloacal malformation, iatrogenic urethral stricture, and multiple false passages in a previously reconstructed urethra of vaginal mucosa that made clean intermittent catheterization difficult. A full-thickness buccal mucosa graft was tubularized in situ as the neourethra to the base of the clitoris. In patients with cloacal exstrophy and cloacal malformation the bladder neck and urethra were widely exposed transabdominally by splitting the pubic symphysis. The fibrotic mucosa was excised and the tubularized buccal mucosa graft was wrapped with periurethral tissues. Other patients underwent transvaginal surgery in the prone position and the graft was covered with a buttock flap. RESULTS: Patients were followed for 12 to 58 months (mean 34.7). Those with cloacal exstrophy and cloacal malformation had been completely incontinent before urethral reconstruction but all attained complete continence postoperatively. They and the girl who underwent urethral reconstruction for difficult catheterization performed clean intermittent catheterization easily. The patient with urethral stricture voided via the urethra without difficulty. CONCLUSIONS: In select female patients with difficult urethral reconstructive problems a tubularized free graft obtained from the buccal mucosa may be effectively used when local tissue is fibrotic and unsuitable for creating a supple new urethra.

Cloacal exstrophy: a 25-year experience with 50 cases.

PURPOSE: The aim of this study was to evaluate the outcomes of reconstruction of all cloacal exstrophy cases seen by the authors from 1974 to 1999. METHODS: A retrospective chart review and personal follow-up was conducted on all 50 patients, who ranged in age from newborn to 35 years. Thirty-eight were secondary cases, 12 were primary (no previous surgery). Twenty-eight (56%) were genetic boys; 6 were raised as boys and 22 as girls. Forty patients underwent extensive reconstructive surgery; 6 await reconstruction, and 4 were seen only in consultation. For urinary continence, 21 had bladder neck narrowing, 7 received a bowel nipple, and 12 had a Mitrofanoff catheterizable conduit on the abdominal wall, using tapered intestine in 8, ureter in 3 and the appendix in 1. Four patients had a urostomy. Bladder augmentation was performed in 35 patients (18 with stomach, 11 small bowel, and 6 with both). Twenty-five patients had pull-through of their colon to the perineum. Thirty-two have had a vagina constructed. Forty-seven of the 50 patients had spinal cord tethering, and most underwent neurosurgical release. RESULTS: Overall survival rate was 98%; 1 patient died preoperatively at another institution. Acceptable bowel continence was achieved with enema washouts in 19 of 25 pullthroughs; 4 failed and were reversed. One case is too recent to judge. Of 40 reconstructed cases, 31 were dry, 3 had slight leakage, and 1 is too early to evaluate. Five had enough leakage to require further surgery. CONCLUSIONS: The once hopeless anomaly of cloacal exstrophy is treatable with extensive reconstructive surgery. Continence of urine (mainly by catheterization) and stool (mainly by enema washouts) is achievable in most. The hindgut, including the cecum and the usually rudimentary distal colon, should be saved and used as colon, not for urinary or vaginal reconstruction. In genetic boys, the authors continue to believe that gender assignment should depend on the likelihood for reconstructing an adequate phallus.

Sibling vesicoureteral reflux in multiple gestation births.

BACKGROUND: Vesicoureteral reflux (VUR) is the most commonly inherited disease of the genitourinary tract. Although the majority of evidence supports a genetic cause, the tendency for this condition to spontaneously improve over time has made it difficult to determine the actual mode of transmission. We report the incidence of VUR in siblings of multiple gestation births and for the first time compare the relative incidence of reflux between identical and fraternal twins. METHODS: A database consisting of all radionuclide cystograms and voiding cystourethrograms performed between the years 1986 and 1996 was searched for multiple gestation births. The medical records of each patient were evaluated for age at presentation, zygosity, reflux grade, and time to resolution. Children with secondary causes of VUR (eg, posterior urethral valves) were excluded. Triplets were treated as 2 pairs of twins for statistical analysis. RESULTS: Forty-six pairs met the inclusion criteria (31 dizygotic and 15 monozygotic). Overall, 23 (50%) of 46 siblings of index cases had demonstrable VUR. Comparison of VUR prevalence between identical and nonidentical twins was revealing with 80% (12/15) of identical twins and 35% (11/31) of fraternal twins having VUR. When only the youngest individuals in each group were considered, 100% (7/7) of the monozygotics and 50% (5/10) of the dizygotics demonstrated this trait. CONCLUSIONS: High concordance for VUR in identical twin siblings supports a genetic basis for the transmission of this disease. Results obtained from fraternal twin siblings provides convincing evidence that this trait is transmitted in an autosomal dominant fashion.

Normal urodynamics in patients with bladder exstrophy: are they achievable?

PURPOSE: Urodynamic study was performed in patients with exstrophy to determine the effect of bladder neck reconstruction and the ability to achieve normal urodynamics following surgery. MATERIALS AND METHODS: A total of 30 exstrophy cases at different stages of reconstruction were retrospectively reviewed in terms of bladder capacity, compliance, stability and presence of detrusor contractions following urodynamic study. RESULTS: Bladder capacity increased from a third predicted volume for age to half after reconstruction. Approximately 80% of patients had compliant and stable bladders before bladder neck reconstruction. Following bladder neck reconstruction approximately half of the patients maintained normal compliance with a smaller number maintaining normal stability. A quarter of patients maintained normal filling dynamics following bladder neck reconstruction, and 19% maintained normal filling and voiding dynamics after reconstruction. CONCLUSIONS: The majority of closed exstrophy bladders have normal filling dynamics before bladder neck reconstruction. Compliance and stability are impaired following bladder neck reconstruction. Approximately 25% of patients with exstrophy may maintain normal detrusor function following reconstruction. However, less invasive alternatives to the Young-Dees-Leadbetter bladder neck reconstruction should be sought.

The incidence of intersexuality in children with cryptorchidism and hypospadias: stratification based on gonadal palpability and meatal position.

PURPOSE: The combined findings of cryptorchidism and hypospadias often indicate the existence of an intersex state. Testicular maldescent and incomplete tubularization of the urethral plate occur in a spectrum with the severity of the 2 processes likely dependent on the degree of pathophysiology in the androgenic hormonal axis. The incidence of intersexuality in children with undescended testes, hypospadias and otherwise nonambiguous male genitalia has been reported to be 27%. Although the likelihood of genotypic or gonadal ambiguity has previously been associated with meatal position in this population, to our knowledge our study is the first to evaluate the incidence of intersexuality relative to whether the undescended testis is palpable or nonpalpable. MATERIALS AND METHODS: The database at our hospital was searched for all cases of undescended testes (2,105) and hypospadias (1,057) between 1982 and 1996. Radiographic, histological and karyotypic data were compiled for all patients presenting with both diagnoses. Gonadal palpability (palpable versus nonpalpable) and meatal position (anterior versus mid versus posterior) were recorded and correlated with the likelihood of identifying an intersex condition. Ten boys with a diagnosis of undescended testes subsequent to inguinal hernial repair were excluded from study. Patients with congenital adrenal hyperplasia or complete testicular feminization were also excluded from study due to the clearly female appearance of the external genitalia. Statistical significance was assessed using Fisher's exact test. RESULTS: We identified 79 patients presenting with undescended testes, hypospadias and a phallus that was believed to be a possible penis. Intersex conditions were identified with nearly equal frequency in the 44 cases of unilateral (30%) and 35 of bilateral (32%) cryptorchidism. In the unilateral undescended testes group patients with a nonpalpable testis were at least 3-fold more likely to have an intersex condition than those with a palpable undescended testis (50 versus 15%, p = 0.02). In the bilateral group patients with 1 or more nonpalpable testes were also nearly 3-fold as likely to have an intersex condition than those with bilateral palpable undescended gonads (47 versus 16%, p = 0.07). Meatal position was graded as anterior in 33% of cases, mid in 25% and posterior in 41% with the more posterior location conferring a significantly greater likelihood of an intersex condition (anterior 2 of 26, mid 1 of 20 and posterior 21 of 33). CONCLUSIONS: Gonadal palpability is an important predictor of an intersex state in unilateral and bilateral cases of cryptorchidism with hypospadias. Patients with an undescended testis that cannot be palpated are significantly more likely to have an intersex condition than those in whom the undescended testis may be palpated on physical examination. The severity of hypospadias likewise has a strong positive correlation with an intersex state.

Urodynamic findings in children with isolated epispadias.

PURPOSE: The exstrophy-epispadias complex represents a spectrum of anomalies with variable implications for upper and lower urinary tract function. Successful treatment of incontinence in this population is challenging and often elusive. To date few studies have focused on urodynamic findings specific to primary epispadias. MATERIALS AND METHODS: We retrospectively reviewed the records of patients presenting with primary epispadias in the absence of bladder exstrophy. We identified 18 boys and 12 girls, of whom 16 underwent formal urodynamic evaluation before (5), after (6) or before and after (5) surgical narrowing of the bladder neck. Bladder capacity was recorded as percent of expected capacity for age. Bladders were considered hypertonic when end filling pressure was greater than 20 cm. water. End filling pressure was defined as the pressure at which urinary leakage was noted or the patient had discomfort. Uninhibited contractions were considered significant when the amplitude was greater than 15 cm water. The ability of the detrusor to generate a voiding contraction at the end of the filling phase was also recorded. Urodynamic studies were performed with a balloon catheter occluding the incompetent bladder neck or with a standard urodynamic catheter after formal bladder neck repair. RESULTS: Before bladder neck repair average bladder capacity was 157 ml (range 55 to 450), corresponding to 52% (range 22 to 100) of expected capacity. Significant uninhibited contractions were noted in 2 patients. In 7 of the 9 evaluable patients (78%) a voiding contraction was generated. In children in whom urodynamic studies were done after surgery mean bladder capacity was 260 ml (range 77 to 660), corresponding to 76% (range 36 to 147) of expected capacity. Hypertonicity and hyperreflexia were noted in 3 and 2 patients, respectively. In 5 of the 11 cases (46%) a voiding bladder contraction was generated. Of the 5 patients who underwent urodynamic evaluation before and after bladder neck repair the percent increase in bladder capacity was significantly greater in the 2 boys (67 and 110%, respectively) than in the 3 girls (-20, 10 and 20, respectively). CONCLUSIONS: The most frequently noted urodynamic pattern before surgical correction of the bladder neck in patients with isolated epispadias is a low capacity, highly compliant bladder with minimal detrusor dysfunction. Postoperatively capacity increases, albeit to a greater extent in boys than in girls, and the incidence of detrusor dysfunction increases as well. In some patients classic bladder neck repair may result in detrimental bladder dynamics due to as yet poorly elucidated mechanisms.

Reservoir calculi: a comparison of reservoirs constructed from stomach and other enteric segments.

PURPOSE: The intestinal augmented bladder has an increased propensity to form urinary calculi. Predisposing risk factors include chronic bacteriuria, urinary stasis and mucus production. Gastric reservoirs have negligible mucus production and the ability to acidify the urine. We determined whether they also have a decreased incidence of stones. MATERIALS AND METHODS: We retrospectively reviewed the records of all patients undergoing augmentation cyptoplasty (215) or creation of a freestanding reservoir (44) between May 1976 and March 1996. Of these cases 83 were augmented with stomach and 179 were constructed from other intestinal segments, (that is ileal, ileocecal, sigmoid and/or a combination of these). Presenting diagnosis, patient age, gender, additional surgical procedures, interval to stone formation and calculous composition were recorded. Patients were excluded from study when there was less than 1 year of followup, as were those with renal or pre-augmentation bladder calculi. RESULTS: Stones formed in 32 of 207 patients (15%) after an average interval of 3.6 years (range 0.5 to 8.6). The majority of stones were composed of struvite (magnesium ammonium phosphate). Reservoirs containing gastric segments were significantly less likely to form calculi than those augmented with other intestinal segments (2 of 70 versus 30 of 137, p <0.0001 Fisher's exact test). Seven additional patients with pre-augmentation bladder stones who subsequently underwent gastrocystoplasty remain stone-free at an average followup of 3.0 years. CONCLUSIONS: Calculous formation is rare in reservoirs that incorporate a gastric segment. In patients with gastric augmentation stones appear only to develop when the patient is on histamine blockade or has a propensity to form stones that only favor an acidic environment, such as uric acid.

Cloaca, the most severe degree of imperforate anus: experience with 195 cases.

OBJECTIVE: To provide a follow-up of 195 patients with cloacal malformations seen by the author from 1959 to 1998. SUMMARY BACKGROUND DATA: Cloaca, which occurs in approximately 1 of 50,000 births, is the most complex type of imperforate anus with confluence of the rectum, vagina, and bladder in a urogenital sinus. Functional results for the bowel, the genital tract, and the urinary tract were formerly poor. Cloacal exstrophy, which is an even more complex spectrum of malformations, was uniformly fatal until 1960. In addition to imperforate anus, these babies have an omphalocele, two exstrophic bladders, between which there is an open cecum, and a blindly ending colon hanging down in the pelvis from the cecum. Although both of these diagnoses contain the word "cloaca," which is Latin for sewer, they are really two separate entities in terms of surgical management. Cloaca and cloacal exstrophy in most cases are very different anatomic problems. However, there are variants that are like a hybrid, which is the rationale for reporting together an experience with both entities. METHODS: Records were reviewed of 154 patients with cloaca and 41 patients with cloacal exstrophy to assess anorectal function, urinary continence, and sexual function where available. RESULTS: Follow-up was available in 141 cloaca patients: 82 have spontaneous bowel movements and satisfactory control, 38 use enemas to evacuate, 9 have a colostomy, 7 have fecal soiling, and 5 are too recently operated to evaluate. Regarding urinary control, 83 void spontaneously, 40 catheterize to empty, 4 have urinary diversion, 1 has a continent diversion, 5 patients are wet, and 8 are too recently operated to judge. Twenty-four patients are now adults, 17 of who have experienced coitus and 7 have not. Seven have had babies, all except one by cesarean section. Results of surgery for cloacal exstrophy are not as good, but are encouraging nonetheless for an anomaly that was uniformly fatal before 1960. Of the 41 cloacal exstrophy patients being followed, 7 have not undergone surgery. Fifteen have a colostomy; 19 had pull-through of the colon, but 3 were subsequently reversed for fecal incontinence. Most depend on enemas to evacuate. Urinary dryness was attained in 30 patients, usually by intermittent catheterization of the bladder, which was augmented with small bowel or stomach or both. Only three void voluntarily. Fifteen of the completed long-term patients wear no bag. Only three of the completed patients wear two bags. The rest have one bag. CONCLUSIONS: Imperforate anus and associated malformations in cloaca and cloacal exstrophy are not hopeless problems. A reasonable lifestyle can be achieved for most of these children with comprehensive surgical planning.

Construction of a female urethra using the vaginal wall and a buttock flap: experience with 40 cases.

METHODS: From 1975 to 1996 a urethra was constructed using tubularized anterior vaginal wall covered with a buttock flap in 40 female patients in whom urinary incontinence was associated with a short or absent urethra. The underlying pathology included bilateral single ectopic ureters, cloacal malformation, urogenital sinus malformation, previous failed surgery of the urethra, severe trauma, myelodysplasia, female hypospadias, ectopic ureterocele with destruction of the urethra, congenital epispadias, bladder exstrophy, and previous hysterectomy and vaginectomy for clear cell carcinoma caused by intrauterine exposure to diethylstilbestrol. Other reconstructive procedures in these patients included bladder neck narrowing from above in 33 patients, ureteral reimplantation in 35, and bladder augmentation in 21. In the prone position, a tube of vaginal wall was used to create a urethra when it was absent or lengthen the urethra if it was too short. The neourethra was extended up to the base of the clitoris, using a multilayered closure of soft tissue over it distally with introital muscle and adjacent mucosa. The proximal neourethra was covered with a buttock flap. RESULTS: All patients were originally wet. Thirty-four are now dry. Four patients have minimal stress incontinence. Two patients have urinary diversions. The majority (n=25) void normally. Fourteen patients self-catheterize to empty their bladders. One patient wears an external appliance on the abdominal wall for collection of urine. Complications included: creating stress incontinence in one patient who had been previously dry by extracting a stone from the bladder, necrosis of a buttock flap from applying a tight perineal dressing, fistula requiring surgical closure in three patients, and slippage of the buttock flap in one patient. CONCLUSION: This operation is a useful method to correct diverse congenital and acquired pathology that causes incontinence in girls.

Pediatric rectal and perineal problems.

Infants and children have surgical disorders of the anus, rectum, and perineum that are largely quite different from the pathology seen in adults. This article presented some of these problems, which physicians encounter, and outlined methods of their management.

Historical perspective of the use of bowel in urology.

The use of bowel has been used in urinary tract reconstruction for more than a century. In the past 20 years, however, indications and methods for bowel utilization have multiplied enormously. This article outlines some of these exciting developments.

Nephrogenic adenoma after urethral reconstruction using bladder mucosa: report of 6 cases and review of the literature.

PURPOSE: To our knowledge nephrogenic adenoma, an unusual benign metaplastic lesion of the urothelium, has not been reported previously following urethral reconstruction using bladder mucosa. Histopathological features, etiological factors and clinical features are discussed. MATERIALS AND METHODS: We reviewed the records of 117 patients who underwent hypospadias repair with free grafts of bladder mucosa from 1982 to 1995. RESULTS: Five children 6 to 11 years old and a 39-year-old man had nephrogenic adenoma of the urethra. Hematuria or dysuria was the usual reason for presentation. The lesions were located at the site of anastomosis between the graft and proximal urethra in 3 cases and the distal graft in 2, and they involved the whole graft in 1. Successful treatment consisted of endoscopic resection of the polyps in 4 patients, while open surgical correction was performed in 2, requiring complete excision of the previous graft in 1 and segmental resection in 1. CONCLUSIONS: The gross appearance of the lesion may be confused with that of transitional cell carcinoma or clear cell adenocarcinoma of the urethra, necessitating biopsy to rule out malignancy. Endoscopic management is possible for small tumors, although severe nephrogenic adenoma involving most of the reconstructed urethra may require complete resection of the graft and creation of a new urethra.

Esophageal replacement in children who have caustic pharyngoesophageal strictures.

Caustic injury to the upper aerodigestive system with scarring of the pharynx, hypopharynx, and esophagus is a challenging reconstructive problem. The authors report on seven patients who required total esophageal replacement from the pharynx to the stomach. Injury occurred from alkali in six and acid in one. Age at injury ranged from 14 months to 14 years (mean, 4.5 years.) in five boys and two girls. Time from injury to esophageal replacement was 6 months to 10 years (mean, 3.5 years). Two required pharyngeal reconstruction before and one after esophageal replacement. Six patients had an isoperistaltic right or transverse colon interposition. One who had gastric necrosis had an ileo-right colonic substernal interposition with creation of a jejunal reservoir. Results of barium swallows showed intact anastomoses in all patients. There were no leaks. Most had some degree of mild to moderate aspiration, and one who had left vocal cord paralysis had initially massive aspiration. Three patients currently eat regular diets; four eat but still require supplemental tube feeds. The authors conclude that children who have hypopharyngeal scarring and obliterated esophageal inlet can undergo a successful colonic esophageal replacement with high proximal pharyngocolic anastomosis.

Continent urinary diversion: the Children's Hospital experience.

PURPOSE: Continent urinary diversion has become increasingly important for treating childhood urinary tract pathology that cannot be managed by direct reconstructive techniques. We review our 9-year experience with continent diversion. MATERIALS AND METHODS: Since 1986 continent diversions were created in 74 patients 3 to 38 years old (mean age 13.7). The underlying pathological condition was the exstrophy/epispadias complex in 34 patients, neurological disorders in 23, malignancy in 13 and other congenital anomalies in 4. Followup averaged 5.2 years after the last procedure. Nonbladder reservoirs in 39 patients (53%) were fashioned from ileocolic (17), colic (7), gastrocolic (6), sigmoid (3), gastrosigmoid (2), ileosigmoid (2), ileal (1) and gastroileac (1) segments. When possible, the native bladder was incorporated into the reconstructive strategy. A total of 26 patients underwent bladder augmentation with intestine or stomach, including ileal (11), gastric (8), sigmoid (3), gastroileac (2) and ileocolic (2) segments. Nine other patients did not require bladder augmentation. Continence mechanisms were a flap valve (Mitrofanoff principle) in 50 patients, nipple valve in 15 and ileal plication (Indiana pouch) in 9. When the Mitrofanoff principle was used with a native bladder reservoir in 30 cases, outlet resistance was altered by bladder neck division (15), fascial sling placement (6) or Young-Dees-Leadbetter bladder neck reconstruction (2). In the remaining 7 patients the bladder neck remained intact. RESULTS: Excellent continence was obtained. The Mitrofanoff principle initially provided continence in 41 patients (82%). Six of the 9 incontinent patients were dry after a single revision. A total of 13 patients (87%) with nipple valves and 7 (78%) with Indiana pouches were dry, and the remaining 5 were cured after a single revision. Ultimately continence was achieved in 71 of the 74 patients (96%) after a maximum of 2 operations. Of the 48 complications in 29 patients the most common were difficulty in catheterizing (11), stones (11), infection (8) and upper tract deterioration (4). CONCLUSIONS: Many options exist for reconstructing complex anomalies. Choices must be individualized based on patient anatomy. The dry state may be achieved in most cases without resorting to a bag on the abdomen.

The genetic male with absent penis and urethrorectal communication: experience with 5 patients.

PURPOSE: Congenital aphallia is a rare anomaly that occurs only once in 30 million births. Five cases are described. MATERIALS AND METHODS: All 5 patients 4 to 20 years old had been reared as female. The bladder neck or short urethra entered the anterior rectum in each patient. At referral 2 patients had a vesicostomy and 1 had a colostomy. Hydronephrosis and vesicoureteral reflux were present in 2 and 3 cases, respectively. After separating the urinary tract from the rectum a urethra was created in each patient and a bowel vagina was constructed in 4 during the same operation. The initial patient did not undergo simultaneous creation of a vagina. RESULTS: One patient later required a bladder neck narrowing operation for stress incontinence. She became incontinent again after transpubic surgery to create a sigmoid vagina was performed elsewhere 8 years later. The other 4 patients are dry, and they have normal urinary and bowel control. CONCLUSIONS: A single extensive operation on the bladder, vagina and rectum simultaneously is the ideal approach in these cases using the prone posterior sagittal and supine abdominal perineal positions.