TYPES OF EXSTROPHY OF URINARY BLADDER AND CONCOMITANT MALFORMATIONS

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TYPES

OF

EXSTROPHY

OF

URINARY

BLADDER

AND

CONCOMITANT

MALFORMATIONS

A

Report

Based

on 82 Cases

By Aurelio C. Uson, M.D., John K. Lattimer, M.D., and Meyer M. Melicow, M.D.

Babies hospital and the Squier Urological Clinic, Columbia-Presbyterian Medical Center

(Accepted October 9, 1958; submitted July 19.)

Supported by a grant from the Irene Heinz Given and John La Porte Foundation. ADDRESS: (J.K.L.) 620 West 168th Street, New York 32, New York.

927

PEDIATRICS, May 1959

E

XSTROPHY of the urinary bladder

(ecto-pia vesicae), one of mankind’s worst anomalies, was probably first described in

Aidrovandus’ Historia Monstrosurn in 1646.

The principal features are: extroversion of

the posterior bladder wall with continuous

leakage of urine, epispadias on cleft clitoris,

hypogastric defect with ventral hernia and

wide separation of the rectus muscles and

particularly of the pubic arch. These are as

readily recognized at birth as at older ages

(Figs. 1 to 4 and 13).

Exstrophy is said to occur once in from

30,000 to 50,000 binths.2,3 The anomaly has been found in identical twins4 but no

evi-dence of familial predisposition, racial

ten-dency on relation to specific illness during

pregnancY has as yet been associated with it. The etiology is unknown and to date the

various theories (mechanical, pathologic and

embryologic) advanced to explain its genesis

are unproven.

Three principal types of bladder

exs-trophy are usually described: 1) Superior

vesical fissure, in which the union of pubic

skin is normal but there is a defect in the

upper part of the bladder; 2) inferior

vesi-cal fissure, in which the pubic skin is intact

but there is a rent or split in the lower part

of the bladder; 3) complete exstrophij, in

which there is a wide separation of the

pubes an(l the bladder lies evented between

the diverging rectus muscles in the

supra-pubic region.” It is frequently stated in the

literature that the bony symphysis of the

1)ubis is united in types 1 and 2, but all of this series of 82 cases with varying degrees

of exstnophy have been found to have an

abnormal separation of the pubes, when

carefully examined. This has also been true

in all of our cases of epispadias. Further-more, we have never seen a patient with wide separation of the pubes without some type of vesical, urethral on penile

malfonma-tion.

The extroversion of the bladder must be

treated surgically, otherwise the patient will remain a social outcast and will probably have a shortened life expectancy.#{176} The type of treatment should be selected after evalua-tion of the following factors: 1) type of exstnophy; 2) status of the upper urinary

tracts; 3) size and pathologic changes of the exstnophied bladder; 4) the child’s general

condition; 5) status of the gastrointestinal tract, particularly the anal canal, rectum and

sigmoid colon; and 6) the presence of con-current anomalies. In order to evaluate and

compare the results of treatment fairly, not

only must the type of operation be

con-sidered, but also the six aforementioned factors must be evaluated, lest the

conclu-sions and comparisons not be valid. In this

respect, it is of interest to note that numer-ous papers dealing with this anomaly have been published, yet few mention the

impor-tant fact that other anomalies frequently oc-cur in these same patients. In addition, little emphasis has been placed upon the impon-tance of these associated anomalies, either in influencing the selection of the proper

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928 EXSTROPHY OF BLADDER

TABLE I

INCIDENCE OF BLADDER EXSTROPHY ACC0ItDING TO SEX

Author(s) Year Cases M&eis Fentales

(‘on paratire

incidence

Male/Female

IIarvardaid1’hompson’#{176} 19.50 198 134 64 ‘2.1 /1

(;ross” 1953 80 6’ IS 3.45/1

Uso,i, Lattinier an(l Melicow (this series) 1958 8 .59 I3 2.6 /1

CASE MATERIAL AND PLAN OF STUDY

The records of 72 children with exstrophv of the bladder, observed on the Pediatric

Uro-logic Service of the Babies Hospital and the

Squier Clinic from 1932 to 1957 inclusive, were

reviewed in detail (10 others had incomplete

records). The findings as to: 1) incidence of

exstrophv of bladder in males and females; 2)

types of exstrophy; 3) types and numbers of

anomalies other than exstrophy; 4) methods of

treatment employ-ed; 5) numbers and types of complications following the various methods

of treatment; and 6) the results of treatment in

relation to 3) and 4) form the basis of hvo

re-ports. The purpose of this first report is to

dis-cuss the incidence, types and associated

anom-alies, and to illustrate the various types of

bladder exstrophv alone or in association with

other anomalies (Figs. 1-14). The pertinent

data are presented in Tables I-IV.

FINDINGS AND DISCUSSION

Incidence

As shown in Tables I and II, exstrophy of the bladder was observed more frequently

TABLE II

TYPES OF EXSTROPHY AND THE SEX IN 7 OF 8 CASES

OF EXSTIIOPIIY OF THE BLADDER SEEN AT TIlE

SQUIER UROLOGICAL CLINIC FROM 19S

THROUGH 957

Type of Exstrophy (‘ases Males Females

Incomplete l 1 1

Complete 66 45 21

“Exstrophy of cioaca” or vesico-intestinal fistula with

I)ladder exstrophy 4 3 1

Total 7 49 3

in males than in females. In our series its

relative incidence was about two males to

each female. This incidence differs from that of five or seven males to one female,

quoted and requoted by many medical

text-books and

‘‘)

Furthermore

a review of some of the largest reported

series (Table I) tends to verify the 2 to 1

ratio.

Types of Exstrophy (Table II)

COMPLETE EXSTROPHY OF THE BLADDER:

This was the type most commonly observed in this series (66 cases). The characteristic

clinical findings were: 1) complete eversion and protrusion of the “unclosed” posterior

bladder wall; 2) uninterrupted leakage of

urine; 3) diastasis of the lower ends of both

rectus muscles with ventral ilemia; 4) wide separation of pubic symphysis; 5) complete epispadias in males; and 6) cleft clitoris and

“unnoofed” or absent urethra in females (Figs. 1-3 and 5). In this series there was

one pair of identical male twins and both had complete exstrophy.

The size of the exstnophied bladder varied markedly from case to case. In tile majority of the children the bladder averaged 2 inches in diameter (Figs. 1, 2), but in several

the bladder was tiny (Fig. 3). The small bladders were difficult to fashion into a sac but in no case was the vesical remnant too

small to be turned in. No instance of cancer of the bladder was observed in this series, but bizarre pathologic changes were present in every one of tile bladders which were re-moved. These pathologic findings were uro-thehial hyperplasia, squamous metaplasia,

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glandu-/

Fics. 1 and 2 (Upper, left and rig/it). Complete exstrophy with large bladder. J.P. (B.H.293852), boy

4 nioiths of age, born with a complete exstrophy of urinary bladder (arrow 1). The exstrophicd bladder

is of good size and the urotheliuni looks normal. The ureteral openings are adequate without prolapsing

through the l)ladder wall as they do in Figures 4 and 5. The scrotum is almost hifid (arrow 2) and the

penis as shown in Fig. 2 is completely epispadic (arrow 1).

lIC. 3 (Lower l(’ft). Complete exstrophy with small bladder. E.P. (13.11.152838), boy 2 years of age,

born with a Colnpkte cxstrophy of urinary bladder (arrow 1). Note that the size of this exstrophy is

Inticli smaller than that in Figures 1, 2, 5 and 6. Note also the dermatitis (arrow 2) of the abdominal skin l)r(lt1c(-(I l)y continuous contact with infected urine.

Fic. 4 (Lower right). Incomplete exstrophy. GB. (B.I-1.304:386), boy 4 weeks of age, horn with an

incoluplete exstrophv of bladder. Note oniphalocele ( arrov 1), flattened penis with urethra running

dorsally (arrow 2), and mucous meIlll)rane covering the bladder wall bets’een on#{236}phalocele and penis

(arrow .3).

hans, IlYperplasia of the Von Brunn cell

nests, etc.

The typical waddling and unstable gait

observed in pttients with exstnophy was

ap-parent in all children who still had this

mal-formation untreated by tile time they could

walk. However, following removal on

re-implantation of the bladder the majority

be-gaii to walk normally and some of them are able to participate in sports (skiing,

skat-ing, foot racing, etc.) without difficulty. It

appears to us that the “waddling gait” which

was presumed to be due to the separation

of tile pubic arch, may instead be (lue to

the efforts of the child to protect the tender

bladder from the pressure of the rough diaper.

EXSTROPHY OF THE CLOACA: (Also termed

ectopia vesicae with intestinal fistula on

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ex-J\

‘j

FIG 5 (Upper k’ft). Prolapse of ureters. P.B. (B.H.271519), female 6 months of age, born with a

complete exstrophy of bladder (arrow 1). Note some prolapse of the intramural portion of both ureters

through the bladder wall (arrow 2) and cleft clitoris (arrow 3).

Fic. 6 (tlpjer right). Double vagina. E.I). (B.H.934991), female 18 months of age, born with a

corn-plete exstrophy of bladder. Note patches of squamous metaplasia of the urothelium (arrow 1), some

ureterai prolapse (arrow 2) as in the previous case, bifid clitoris and two vaginas (arrow 3). The anal

orifice is anteriorly placed in the perineum, perineal fistula (arrow 4).

Fic. 7 (Lower left). Exstrophy of cloaca. FL. ( B.H.284881), bo’ 2 days of age, born with exstrophv of

cloaca or exstrophy of bladder with intestinal fistula. Note complete extrusion of the small bowel

(arrow 1), umbilical cord (arrow 2), rectal prolapse (arrow 3) and unusual (lefornhitv of the right leg

(arrow 4). The exstrophied bladder is almost entirely hidden by the intestines (arrow 5).

Fic. 8 (Lower right). Exstrophy of cloaca with double penis. B.F. (B.H.27720), boy 2 lavs of age, born

with an exstrophy of cloaca. Note the complete rectal prolapse (arrow 1), cxstrophied bladder (arrow 2),

ureteral openings (arrow 3), comiminication of the intestinovesical fistula (arrow 4), (ioul)le penis and

scrotum with an inguinal hernia and undescended testis in the left side (arrow 5), and the pronounced

(lOtIl)le club feet.

strophy.) This type of exstnophy was

pres-ent in four cases: three boys and one girl.

All four died soon after birth. Vesico-intes-tinal fistula with bladder exstnophy is rare. It represents the worst form of the three

types, and probably represents a further de-gree of severity of the same embryologic

error. This anomaly is incompatible with life and was apparently first described by

\Ieckel in 181212 Schwalbe,13 in 1909, col-lected 25 cases from the literature and pre-sented an accurate clinical description of the condition. Hall et al.l in 1953 reported 1 1 more cases published since 1909, and

added one of their own. In our cases the

salient clinical features were: 1) Complete exstrophy of the bladder, with oval or

heart-shaped vesical “fields”; 2) ileovesical

fistulae with one or two openings; .3)

cx-omphalocele with partial or complete

pro-trusion of the bowels; 4) imperforate anus; and 5) myelomeningocele. In addition,

other congenital malformations, such as

(lOuble phallus, retropenitoneal teratoma,

renal ectopia, ilydrouneteronephrosis, de-formities of the lower extremities, etc., were

also present (Figs. 7, 8).

INCOMPLETE EXSTROPHY : Tilis W5 the

rarest type observed. It was present in two

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;1

S Findings not recorded ii, charts.

Fic. 9 (Left). Exstrophy of bladder with inguinal hernia. MT. (B.H.710605), boy 9 weeks of age, born

with a complete exstrophy of bladder of small size (arrow 1). Note a large right inguinal hernia (arrow 2).

FIG. 10 (Right). Rectal prolapse. SM. (B.H.987275), boy 5 months of age, born with a complete

cxstrophy of bladder (arrow 1). Note the large rectal prolapse (arrow 2).

o)ther a new-born baby girl. Both cases have

1)eell reported recently.14 Their

character-istic clinical findings were: 1) wide

sepana-tion of the pubic arch; 2) umbilicus chose

to pubis, or diminution in the Ileight of tile

hypogastnic space; :3) exposure of the

an-tenon bladder wall without evidence of

muscular or fascial coverings of the

ab-domen at that point; and 4) omphalocele.

In addition, tile upper surface of the penis

appeared somewilat flattened, there was no

suspensory ligament and the urethra ran

jtist under the skin on the donsum of the

penis (Fig. 4). In the girl with this

condi-tion, an omphalocele, a necto-vaginal fistula

with impenfonate anus, congenital

malfor-ination of the heart (persistent ductus

an-teriosus) and incomplete bladder neck

ob-struction were also present.

Concomitant Anomalies (Table III)

Thirty-two males out of forty-nine (65%) and 17 females out of Z3 (74%) had 43 and 24, respectively, additional anomalies other

tilan exstnophy. The numbers and types of the additional anomalies are listed in Table IV. In the boys, inguinal hernias and

un-descended testes were the two lesions most

commonly seen (Fig. 9). Some of the hernias

became incarcerated and the patients had

to be operated upon as emergencies.

Bilat-eral hernias were present much more

corn-monly than unilateral. None of the females

with exstrophy had inguinal hernias. Rectal

prolapse, at times complete, was seen in both sexes, though the females were

af-fected more frequently than the males

(Figs. 10 and 12). This condition, even

when only moderate, was found to have a

harmful effect on the sphinctenic mecha-nism of the anus. In this series, none of the

TABLE III

INCIDENCE OF CONCOMITANT ANOMALIES IN 72 OF 8

PATIENTS WITH EXSTROPIIY OF THE BLADDER

Sex Cases Exstrophy Alone

Other

Anomalies Unknown5

Males 49 1 1 3 6

Females 23 5 17 1

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9:32 EXSTROPHY OF BLADDER

FIG. 11 (Left). Uterine prolapse. A.B. (B.H.953105), female 14 years of age, born with a complete

exstro-j)hy’ of bladder which was excised during childhood (arrow 1) after the ureters had l)een traus1lanted iIlt()

the sigmoid by the Coffey II technique. Note complete prolapse of uterus following vaginoplasty at 13

years of age (arrow 2).

FIG. 12 (Right). Squamous metaplasia and rectal prolapse. P.S. (B.I-l.58014:3), female 3 ears of age, born

with a complete exstrophy of bladder showing in the mucosa a pronounced patch of squamous metaplasia

(arrow 1). Note that the rectum appears entirely prolapsed (arrow 2).

2

C

;‘

A;:

.

3

#{149}/

i

Fic. 1:3 (Left). Exstrophy of bladder with normal upper urinary tract. Ten-minute intravenous urogram

from M.Q. (B.H.881799), a 10-month-old boy, born with a complete exstrophy of urinary bladder but

with normal upper urinary tracts.

FIG. 14 (Right). Exstrophy with hydroureter. Forty-minute intravenous urogram from K.N. (B.1-I.753547),

a 3-Illonth-old baby girl, born with a complete exstrophy of bladder. Note bilateral

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‘FABLE IV

(‘osco\IITkNT ANOMALIES IN 49 OF 72 CASES

01

Exwritoi’ii-A nomaly

children who had rectal prolapse and ex-stnophy of the bladder developed rectal

continence, particularly for urine, after

‘ uretero-enterostomy. In addition, two other

\;.

F patients with nectopenineal fistulae were Each Males mats also incontinent of urine following

unetero-(totals) sigmoid transplantation (Fig. 6). For this

- reason rectal prolapse and rectoperineal

fis-tula may be contnaindications for

unetero-‘: ‘: sigmoid transplantation. Four other

chil-(2) dren had unilateral or bilateral duplication of the upper urinary tract, and another four

3 1 had hydroureteronephrosis of varying

de-gree (Fig. 14). The hatter condition turned

4 3 1 out to be a serious handicap at the time of

8 3 5 uneteno-intestinal anastomosis, and as a rule,

I 0 1 children with exstrophy and dilated uretens

1 1 did poorly after uretenosigmoid

transplanta-(16) tio)ns. One girl developed, at the age of 14 years, complete uterine prolapse several years after bilateral uneterosigmoid

trans-6 6 0 plantation with cystectomy, and 1 year after

(7) vaginoplasty (Fig. 11).

I (4) 3 1 (4) C) (4) 3 (7) 0 1 I I 2 1 I 1 0 0 1

‘Total 57 43

a l)oes riot iIICIU(le VeF’ snall omphaloceles.

1Other concomitant malformations of

gastrointesti-iitl tract LLII(l lower extrelnities found in these four

chil-(lrell not in(lU(lC(l.

*5 This malformation was not always checked or

re-cor(led 111all cases.

lIlgtliIIal hernias

Bilateral

1’nilateral

()znplialocele5

Intestinal anolnahes

\esico-intestinal fistula f Rectal prolapse Imperforate IIU5 Rectoperineal fistula Rectovaginal fistula tIPleSceIlded testes Bilateral Unilateral agiIIal rnalforlllatiolls55 Al)seIICe I)ouhle Uterine prolapse

I)plication upper urinary tracts

1.IIilateral Bilateral 1ly(lrone)hrosis Unilateral Bilateral Miscellaneous Siinal malformations Cardiac Illalforlnations

l)efect of palate

Mongolislll

SUMMARY

0 The records of 72 cases with exstrophy of

0 1 urinary bladder are reviewed and the

van-0 1 findings tabulated. Ten additional cases

on which complete data were not available are included in the study of sex distribution

only. The types of exstrophy, their

mci-0 1 dence, associated anomalies and

considera-tons on management are discussed.

Acknowledgment

The authors are grateful to Dr. R. McIntosh, Director of Babies Hospital,

Columbia-Pres-bvtenian Medical Center and to Dr. D. H.

Andersen, Pathologist of Babies Hospital, for

suggestions and use of material.

REFERENCES

1. Hall, E. C., McCandless, A. E., and Rick-ham, P. P. : Vesico-intestinal fissure with

diphallus. Brit.

J.

Urol., 25:219, 1953.

2. Lower, W. E. : Transportation of ureters

into rectosigmoid in young children and

infants.

J.

Mt. Sinai Hosp., 4:650, 1938.

3. Higgins, C. C. : Ureterosigmoidostom for

exstroph of the bladder.

J.

Urol., 57: 693, 1947.

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the rectosigmoid in infants. Tr. Am. A.

Genito-Unin. Surgeons, 36:267, 1943.

5. Lowsley, 0. S., and Kirwin, T.

J.

: Clinical

Urology, 2nd Ed. Baltimore, Williams &

Wilkins, 1944, p. 962.

6. Mayo, C. H. : Quoted by Harvard, B. M., and Thompson, C.

J.’#{176}

7. Rolnick, H. C. : The Practice of Urology.

Philadelphia, Lippincott, 1949, p. 437.

8. Campbell, M. F. : Clinical Pediatric

Urol-ogy. Philadelphia, Saunders, 1951.

9. Riches, E. W. : Exstrophy’; ectopia vesicae.

Ann. Roy. Coll. Surgeons England, 9:

71, 1951.

10. Harvard, B. NI., and Thompson, C.

J.:

Congenital exstrophy of the urinary

bladder; hate results of treatment by the Coffey-Mayo method of uretero-intes-tinal anastomosis.

J.

Urol., 65:223, 1951.

11. Gross, R. E. : The Surgery of Infancy and Childhood: Its Principles and Tech-niques. Philadelphia, Saunders, 1953, p. 668.

12. Meckel,

J.

F. : Handbuch der

pathologi-schen Anatomie. Leipzig, 1812.

13. Schwalbe, E. : Die Morphohogie den

Miss-bildungen der Menschen und Tiere. Jena, Fischer, 1909.

14. Uson, A. C., and Roberts, M. S.:

Incom-plete exstrophy of urinary bladder; a report of two cases.

J.

Urol., 79:57,

1958.

PHENYLKETONURIA TREATED FROM EARLIEST INFANCY, F. A. Homer and C. \V.

Streamer. (A.M.A. J. Dis. Child., 97:345, March, 1959.)

This paper reports the development of three patients (ages 3 years, 2M2 years

and 1 year) who received a phenylalanine-deficient diet from early infancy as

treat-ment for phenylketonuria. Each one of the cases had one or more severely retarded

siblings with phenylketonuria. Because of this background, the detection of

phenyl-ketonuria was possible early in infancy, between a few days and 7 weeks of life.

Im-mediately upon diagnosis a phenylalanine-free diet was instituted; after the initial diet

had been administered for 3 weeks, 2 gm of natural protein in the form of cow’s-milk

was added to the diet. At about 6 months of age the natural protein was increased to

3 gm a day. The concentration of phenylalanine in the serum was maintained

be-tween 3 and 7 mg/100 ml. The mental and physical development of these patients

progressed normally throughout the period of observation. As each of the patients had

the diagnosis of phenyiketonuria established by detection of abnormal phenylketonuria

and elevated concentrations of phenylalanine in the plasma, it seems reasonable to

conclude that the development of these patients in a normal fashion is a reflection

of the treatment, although some untreated cases may have normal or near normal

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1959;23;927

Pediatrics

Aurelio C. Uson, John K. Lattimer and Meyer M. Melicow

MALFORMATIONS: A Report Based on 82 Cases