Congenital H-type anourethral fistula with severe urethral hypoplasia: Case report and review of the literature

Congenital H-Type Anourethral Fistula With Severe Urethral Hypoplasia: Case Report and Review of the Literature By A. Al-Bassam,

M.A.

Sheikh,

S. Al-Smayer, Riyadh,

Congenital H-type anourethral fistula with severe urethral hypoplasia and normal anus is an extremely rare variant of anorectal malformations among boys. The authors report a case of a 5-year-old boy who underwent successful management of severe urethral hypoplasia with progressive augmentation by dilating urethra anterior gently and achieving a functionally normal urethra with minimal morbidity. H-type

ONGENITAL H-TYPE anorectal malformations (ARMS) with normal anus are reported rarely. The majority of these patients are girls who have a fistula between anorectum and vestibule of the vagina’s2 with fewer and milder associated anomalies.3,4 These ARMS in girls are also called a perineal canal or double termination of alimentary tract.lJJ ARMS that occur in boys are few, and they usually have a communication between the anorectum and anterior urethra,5-7 with multiple and major Vecteral association of anomalies.3,4.8 These ARMS in boys are also termed urethroanal, urethrorectal fistala or N-type/Htype jistula of anorectal region.6,7,g,10 Associated urethral abnormalities are mainly urethral hypoplasia, stenosis, or atresia and are seen in less than half of the boys.5-7,9J1-15

C

CASE

REPORT

A 5-year-old boy was seen in the Paediatric Surgical Clinic at King Khalid University Hospital, Riyadh, Kingdom of Saudi Arabia on November 25, 1996 with the complaint of absence of normal urethral voiding. He was passing urine through the anus and had watery diarrhea since the early days of his life. He was a product of a twin pregnancy, delivered by an elective lower-segment cesarian section at 35 weeks’ gestation. His birth weight was 2.6 kg. Postnatally, he was treated in the neonatal intensive care unit (NICU) for respiratory distress syndrome, right-sided pneumothorax, and congenital heart disease. His pulmonary valve stenosis was dilated by a balloon catheter at the age of three years at a nearby pediatric cardiac facility. An investigation of watery diarrhea and malabsorption, which included upper gastrointestinal endoscopy and jejunal biopsy, were reported normal. An external urethral meatal stenosis and anteriorly placed anus was noticed. Ultrasound scan of the

From the Departments of Surgery and Radiology, King Khalid University Hospital, Riyadh, Kingdom of Saudi Arabia. Address reprint requests to Dr Abdulrahman Al-Bassam, Associate Professor of Paediatric Surgery, Paediatric Surgery Division, Department of Surgery, King Khalid University Hospital, PO Box 86572 Riyadh 11632, Kingdom of Saudi Arabia. Copyright 0 1998 by WB. Saunders Company 0022-3468/98/3310-0023$03.00/O

1550

A. Al-Boukai,

and

S. Al-Damegh

SaudiArabia

anourethral fistula was excised rior perianal approach. J Pediatr Surg 33:1550-1553. Saunders Company. INDEX WORDS: thral hypoplasia,

Congenital anorectal

subsequently Copyright

through o

H-type anourethral malformation.

1998

anteby

fistula,

W.B.

ure-

abdomen and intravenous pyelography showed good renal excretion with crossed ectopia of the left kidney and malrotated right kidney. Voiding cystourethrogram (VCUG) could not be done because of the inability to catheterize the small urethra. The patient was taken to the operating room, and an attempt to dilate the urethra for possible cystoscopy failed. A small 4F catheter could only be inserted up to the glandular urethra. A limited ascending urethrogram was performed, which confirmed a severe urethral hypoplasia (Fig 1). Anoscopy results showed an opening of 5 mm diameter in the anterior anal wall expelling clear fluid that was thought to be urine. A feeding tube inserted into the opening reached the urinary bladder confirming H-type anourethral communication. The urethral hypoplasia was managed by progressive augmentation by dilating urethra anterior (PADUA) under general anaesthesia and fluoroscopy control. An angiographic guide wire was passed through the urethra, and a well-lubricated 4F diameter pigtail catheter was gently guided over it. This urethral stent was left indwelling for 1 week, and over the next 6 weeks it was replaced progressively in a similar manner by a larger stent, just filling the urethra until we achieved a urethral caliber of 14F (Fig 2). Later, we excised and repaired the anourethral fismla via anterior perianal approach without a covering colostomy. The postoperative course was uneventful. Foley’s catheter was removed on the 10th postoperative day and VCUG (Fig 3) showed satisfactory size of urethra. Normal urethral voiding was established, and he was discharged home on the 12th postoperative day. At the eight month of follow-up, the patient had no voiding difficulty and was passing urine normally per urethra.

DISCUSSION

Congenital H-type ARM is a rare anomaly. The reported incidence is between 3.2% and 7.1% of ARMS, with female predominance from Asian countries.1-4~8 Forty-three percent of these girls had some associated anomalies, whereas the few boys reported on in the literature had major associated anomalies.3.4,sBecause of a high association of H-type tracheoesophageal fistula with this ARM, it was thought by some researchers to be an analogus anomaly at the other end of the gastrointestinal tract7J2 Brem et al4 had summarized 21 cases of H-type anoJournal

offediafric

Surgery,

Vol33,

No 10 (October),

1998: pp 1550-1553

CONGENITAL

H-TYPE

Fig 1. Ascending anterior urethra.

ANOURETHRAL

urethrogram

1551

FISTULA

shows

severe

diffuse

narrowing

of

Fig 3. VCUG done on the 10th postoperative well-obtained calibre of the urethra with no fistula.

Fig 2. delineates

Ascending urethrogram the anourethral fistula.

done

during

stage

4 of PADUA

day

outlines

a

urethral fistula in boys. We updated this total to 31 from the reports of Senocak and Buyukpamukcu,13 Rizalar et al,14 Rintala et a1,8Wakhlu et al,16 and finally this case. Among these 3 1 cases, 12 patients had associated urethral hypoplasia, stenosis, or atresia (Table 1). Rintala et al* reported on three boys with hypospadias or urethral abnormalities, but did not specify, therefore, they are excluded from the total. The complete absence of urethra is incompatible with normal development of the kidney and hence the survival of the fetus. Therefore, surviving newborns usually have an alternative pathway such as patent uracus or penoscrotal, vesicovaginal, urethrorectal, urethro anal fistula. Among these alternative pathways, urethrorectal or anal communication is the rarest.13J4 The embryological basis for H-type anourethral fistula with severe urethral hypoplasia and normal anus remains speculative, and different suggestions have been forwarded by different researchers.3-7JoJ7J*Because severe urethral hypoplasia and major malformations occur more frequently in boys, the embryological defect seems to be different for each sex.3,5,7In boys it is multisystemic and occurs earlier in the process of embryogenesis. Kluth et alIs concluded that cloaca1 membrane and dorsal cloaca are essential for the normal establishment of the anal orifice. A defective cloaca anlage results in a missing and misplaced anal orifice and an abnormal communication between the rectum and the ventral urogenital tract. Stephens and Donnellan6 in their anatomic studies of these ARMS, found an adequate voluntary sphincter

1552

AL-BASSAM Table

1. Clinical

Presentation

and Management

for Cases of Congenital

Presentation

Age 6mo

Urine mixed with weak stream

stool

Anourethral

Fistula

With

Urethral

Hypoplasia

Management

voiding

with

a

ET AL

Study

Left cutaneous ureterostomy, exteriorization of urethra distal to fistula (1st stage Johansen), excision of fistula,

DeVaries

and Friedland,

1974’

2nd stage Johansen repair deferred because of neurogenic bladder 3v

Difficulty

in voiding

10 mo

Dribbling from of rectum

7 yr

Voiding

and watery

urethra

diarrhea

and anterior

wall

Suprapubic colostomy,

cystostomy, end sigmoid division of fistula and tube

perianal urethrostomy Mobilization of rectal end of fistula to form perianal hypospadias late reconstruction

per rectum

and epididymo-

orchitis

Id

Voiding

of penile

and Cendron,

1975”

urethra

Mobilization of rectal end of fistula to form perineal hypospadias, later reconstruction of penile urethra in 2nd stage Marcupilization

per rectum

Desgrez

of penobulbar

urethra

Stephens

and Donnellan,

19776

and fistulectomyvia anus, later repair of hypospadias in 2nd stage 7d

Voiding Voiding

15 h Premature 4Yr

newborn

per rectum per rectum

Died Exteriorization

Voiding

per rectum

fistula and later excised fistula Suprapubic cystostomy, future plan at 2

Voiding

par rectum

of urethra

years of age Mobilization of the rectal tula and anastomosing

distal to the

end of the fisit with

Lang,

1977r2

Belman,

19779

proximal end of scrotal flap urethroplasty, diverting cystostomy and colostomy; later recorrection penile urethra. 3v

Absence of urethral diarrhea

voiding

and watery

Sigmoid colostomy, cystofix cystostomy, mobilization of fistula and anastomosing it to proximal end of penoscrotal tubularised distal end of tubularised mosed

4mo

Absence of urethral diarrhea

voiding

and watery

of

to glandular

Senocakand

Buyukpamukcu,

1990r3

flap while flap anasto-

urethra

Sigmoid colostomy, cystostomy; urethral and anal dilatation for six months, and excision of fistula, closure of sigmoid colostomy cystostomy with follow-up

Rizalaret

al, 199414

and later urethral

dilatations 5

vr

Absence diarrhea

of urethral

voiding

and watery

Progressive augmentation by dilatating urethra anterior (PADUA) from 4F to 14F size, excision of fistula via anterior perianal

mechanism around hypoplastic urethra and paucity of striated muscle coat about the origin of the fistula. Therefore, they concluded that urinary continence more likely occurs after the use of a technique that preserves all the available sphincters, rather than one that incorporates a muscular fistula tract in the reconstruction of the new urethra.6 Management of the H-type anourethral fistula without urethral hypoplasia/stenosis or atresia is simple, because the size of urethra is sufficient to tolerate the urinary flow after the excision of the fistula through anterior perineal approach. However, the management of H-type fismla

approach,

Al-Bassam

et al, 1998 (current

study)

meatotomy

associated with severe urethral hypoplasia is complex, and excision of the fistula has to be delayed until a reasonable-sized urethra is ready to take over urinary flow diversion. Different procedures have been used to treat this condition (Table 1) including exteriorization of urethra distal to fistula and excision of anourethral communication with diverting cystostomy and covering colostomy in the first stage followed by urethroplasty and closure of diverting cystostomy and colostomy later.6,7,12The second procedure used was mobilization of the rectal end of the fistula to form a perineal hypospadias and reconstruc-

CONGENITAL

H-TYPE

ANOURETHRAL

FISTULA

1553

tion of the penoscrotal urethra at the same time or later, with a covering cystostomy and colostomy, which were closed at the completion of the repaitgJ1J3 All of these techniques assume that the hypoplastic urethra is not useable. Only in a case of urethral stenosis was conventional urethral dilatation, excision of urethroanal fistula with covering colostomy, and cystostomy successful.14 Passerini-Glaze1 et al use the technique of slow, soft catheter progressive dilatation. They also were the first to report successful results of intrahuninal stenting of urethra in cases of severe urethral hypoplasia associated with prune-belly syndrome and patent uracus. The rationale for his approach is that the urethra had not been

challenged by a urinary stream, and voiding detrusor pressure and these dynamic activities serve to encourage urethral distensibility. This technique of PADUA is gentle catheterization just filling the urethra progressively, which improves the urethral caliber significantly with fewer complications, in comparison with more rapid forceful dilatation or internal urethrotomy. l5 The congenital H-type anourethral fistula with urethral hypoplasia is a rare variant of anorectal malformation. The diagnosis is usually difficult and made late. The urethral hypoplasia is probably treated best with progressive augmentation by dilating the anterior urethra resulting in significantly fewer complications.

REFERENCES 1. Chaterjee SK: Double termination of the alimentary tract-A second look. J Pediatr Surg 15:623-627, 1980 2. Tsuchida Y, Saitos S, Honna T, et al: Double termination of the alimentary tract in females. A report of 2 cases and a literature review. J Pediatr Surg 19:292-296, 1984 3. White JJ, Hallar JA, Scott JR, et al: N-type anorectal malformation. J Pediatr Surg 13:631-636, 1978 4. Brem J, Guttman FM, Laberge JM, et al: Congenital anal fistula with normal anus. J Pediatr Surg 24:183-185, 1989 5. Stephen FD, Smith ED: Anorectal Malformation in Children. Chicago, IL, Chicago Year Book, 1971, p 5 1 6. Stephens FD, Donnellan WL: H-type urethroanal fistula. J Pediatric Surg 12:9.5-102, 1977 7. De Varies PA, Friedland GW: Congenital H-type ano-urethral fistula. Radiology 113:397-407, 1974 8. Rintala RJ, Mildh L, Lindah H: H-type anorectal malformation, incidence and clinical characteristics. J Pediatr Surg 31:559-562, 1996 9. Belman AB: The repair of a congenital H-type urethrorectal fistula using a scrotal flap urethroplasty. J Urol 118:659-661, 1977 10. Spitz L, Jung PM: Congenital H-type fistula of the anorectal region. Am J Proctol Gastroenterol Colon Rectal Surg 31:22-34, 1980 11. Desgrez JP, Cendron J: Bifidite urethrale avec abouchement

intrarectal de l’un des Canaux. Jd’urologic et de Nephrologic 81: 169. 172,1975 12. Lang EK: The association of anouretbral and tracheo-oesophageal fistulae (A report of two cases). Rev-Interam Radiol, 2:177-180, 1977 13. Senocak ME, Buyukpamukcu N: One stage correction of congenital urethral atresia with urethrorectal communication. Pediatr Surg Int 5:221-223, 1990 14. Rizalar R, Demirbileks Bemay F, Gurses N: H-type urethrorectal communication and complete urethral stenosis with unilateral renal agenesis. J Pediatr Surg 449-50, 1994 15. Passerini-Glaze1 G, Araguna F, Chiozza L, et al: The PADUA (Progressive Augmentation by dilating the urethra anterior) procedure for the treatment of severe urethral hypoplasia. J Urol Part 2, 140:12471249,1988 16. Wakhlu A, Pandey A, Parsad A, et al: Perineal canal. Pediatr Surg Int 12:283-285, 1997 17. VD Puttes SCJ: Normal and abnormal development of the anorectnm. J Pediatr Surg 21:434-440,1986 18. Kluth D, Hillen M, Lambrecht W: The principle of normal and abnormal hindgut development. J Pediatr Surg 30:1143-1147. 1995