ON A CONGENITAL ANOMALY OF THE URINARY

APPARATUS ASSOCIATED WITH ABSENCE OF PART

OF THE ABDOMINAL WALL MUSCULATURE. REPORT

OF A CASE

{With Lantern Demonstration)

By LEWIS Thatcher, M.D., M.R.C.P., University Tutor in Clinical Medicine

The following case seems worthy of record on account of its rarity and the extremely interesting nature of its pathology.

A boy aged three weeks was sent to the Sick Children's Hospital by Dr Thomas Finlay for advice about the abdomen, which had been noticed flat and flaccid since birth. He was well otherwise, and had thriven satisfactorily on the breast. Both parents were

healthy, the mother being 36 and the father 37 years old. This

was the seventh pregnancy; there was nothing to note about

the other children, and there had been no miscarriages. The

labour was normal, there being no hydramnios. The front of

the chest was noticed to be quite flat at birth, but had within a few days assumed its present prominence. Nothing abnormal had been noticed by the mother as regards the functions of the bladder and rectum : there had been no constipation, and the

urine had been voided freely without any apparent pain. The following notes were taken at the time of admission. The baby is fairly well developed, the weight with clothes

being 61 lbs. 12 oz. The nose is broad and flat, and there is slight asymmetry of the pinse of the ears.

The thorax looks short, and is wide below. The anterior wall

Fig. i.

Fig. 3. Fig. 2.

Plate I.?To Illustrate Article by Dr Thatcher.

BY DR LEWIS THATCHER I 35

is markedly prow-shaped, and the range of respiratory movements

imperceptible. The nipples are normal in position and appearance. The appearance of the abdomen is very striking, the wall being

slack and baggy, plastered down on the organs, and bulging over the flanks. When the baby is set up this redundancy of the abdominal wall shows as transverse creasing (Fig. i), and there are also permanent longitudinal furrows of varying depth which cannot be completely smoothed out (Fig. 2). This is because

each has a line of white scar tissue along the bottom, resembling very closely a marked degree of stria; gravidarum. The umbilicus

is represented by one of the longest and deepest of these furrows in the middle line midway between pubes and xiphisternum. There is no resistance whatever even when the baby cries, although the movements of the diaphragm can be made out.

The outline of the solid abdominal organs can be easily seen and felt, the lower border of the liver and spleen respectively reaching three fingerbreadths below the costal margin (Fig. 2). The bladder when full shows as an abdominal organ reaching almost to the umbilicus, and a little inclined to the right. It is

about the size of a hen's egg, tapering above and below. When

empty, it is felt as a spindle-shaped body lying deeply in the middle

line, and in both states is very firm. In front of the lower part of the bladder in the middle line, but more superficial, a small, round, fluctuating body can be made out: it is about half an inch

across, freely movable within moderate limits, and it does not

vary in size with evacuation of urine. The ureters cannot be

seen or felt, the coil in the left flank being later shown to be small intestine. Both kidneys are easily made out, and do not seem

enlarged. Both testicles are undescended. Mr Stiles examined

the hip-joints and found a slight degree of congenital dislocation on to the dorsum present on both sides.

The child throve well, and gained weight steadily at the rate of an ounce a day. On several occasions he passed water while

being examined, without any apparent pain or difficulty: the

stream looked of about the usual size, and the amount of urine

did not seem excessive.

When two months old he died somewhat suddenly with

symptoms of bronchopneumonia. The post-mortem examination, which was limited to the abdomen,

was made on the following day, in a cottage in the country. On reflecting the skin of the abdominal wall, one was at once

I36 CONGENITAL ANOMALY OF URINARY APPARATUS

struck by the almost complete absence of muscular tissue in the usual situations. Only for an inch or so below the costal margin was there any trace of the recti, each being represented by a thin indefinite band of fibres. Transverse sections through the normal

position of the recti above and below the umbilicus, and also

through the anterior part of the lumbar region, were stained by Van Gieson's method, and no muscular tissue could be recognised in them. The psoas and other posterior abdominal muscles, the thoracic and perineal muscles, and the diaphragm, seemed normal.

The apex of the bladder was attached to the region of the

umbilicus by the remains of the urachus, which was only half an inch long, and took the form of a longitudinal band of fibrous tissue. There was also another cordlike band about one inch

long which connected the anterior wall of the bladder to the anterior abdominal wall, and in this part the cyst palpated during life was

developed. The bladder, turned down in the photographs, was seen to be

enormously dilated and hypertrophied (Fig. 3). It measured

three inches from apex to base, and two inches across at its widest

part. On opening it by an anterior incision the wall was found to be between \ and of an inch in thickness, and was very firm. The urethral and ureteral orifices were not dilated in any way, and a large probe passed easily from the bladder through the urethra and vice-versa. A fine probe could with difficulty be passed into the ureteral openings, and there was no sign of kinking. It

had previously been found impossible to regurgitate urine from the bladder into the ureters by pressure over the viscus, although it could easily be expressed from the urethra. Similarly, on

pressing over the ureters, the resistance was so marked that

it was doubtful whether any urine passed on into the bladder

or not.

Sections cut from the bladder wall in a longitudinal direction were compared with those from a normal child (Figs. 4 and 5).

They showed a great increase in the fibrous tissue elements in all three coats, especially the submucous. The muscular coat was

much broken up by this fibrous tissue, the stroma penetrating it from the subperitoneal and submucous layers. The lining epithelium showed catarrh.

Both ureters were greatly dilated and tortuous, closely resembling both in size and general appearance the small intestine which lay over them (Fig. 3). The walls were thinned, and the dilatation

Fig, 4.?Similar section from normal bladder, x 10.

Fig. 5.?Longitudinal section, anterior wall of bladder, x 10.

Pi.ate II.?To Illustrate Article by Dr Thatcher.

BY DR LEWIS THATCHER 137

ended abruptly at the bladder, for the intramural portion was very narrow. The ureters entered at their usual situation ; they showed no sign of kinking, and were patent throughout.

The right kidney was small, with marked hydronephrosis ;

the left, about the usual size, with the pelvis but little dilated.

In both, the foetal lobulation was well marked. The suprarenals appeared healthy, and the relations between bladder and rectum showed no abnormality. Both testicles were found lying free just below the kidneys, and seemed normal in every way.

The stomach was narrow and contracted: the bowel and

pancreas normal, with no dilatation of any part of the former.

The liver and spleen showed no change. There was no sign of

recent or old peritonitis. In the right lung there were considerable patches of broncho-

pneumonia and collapse in all three lobes, this being the cause of death.

To sum up, then, there was marked hypertrophic dilatation of the urinary bladder, with dilatation of the ureters and hydro- nephrosis, without any organic obstruction to the urinary flow.

The abdominal wall was very lax, the abdominal muscles were

completely absent in their lower and antero-lateral parts, and the thorax markedly prow-shaped anteriorly. The testicles were

undescended. There was some asymmetry of the face and pinnae of the ears, and slight congenital dislocation of the hips. The

urinary functions had been carried on quite satisfactorily, and the child had thriven well until it developed broncho-pneumonia, of which he died at the age of two months.

This case illustrates typically a group of malformations which has been but seldom described, for I have only been able to collect thirteen other examples from the literature. Of these, the first

three?those of Frohlich, Von Ammon, and Henderson?are

incomplete and quite unsatisfactory. The remainder fall into

line with the case now described, and a scrutiny of these eleven cases shows the following characteristics.

The age of death, if this occurred, was within a few days, i case (Parker); about one month, I case (Bolton); within two months, 3 cases (Guthrie, Garrod and Davies, and the present one); about nine months, 2 cases (Bolton and Hall, Batten).

Of the others, there were alive at two years, 1 case (Piatt) ;

at three years, 1 case (Mollison) ; at six years, 1 case (Osier) ; at

seventeen years, 1 case (Stumme).

138 CONGENITAL ANOMALY OF URINARY APPARATUS

These ligures show at once that some degrees of the condition are Compatible with life, and in only one case was anything noted amiss with the functions of the bladder. Here there was frequency of micturition, with the passage of between 60 and 80 ounces of urine per day (child aged 6 years). Catarrh of the vesical mucous

membrane was found in the present case. Specially interesting was Stumme's case, where laparotomy was done at the age of

seventeen years, in order to separate the apex of the bladder from the umbilicus. Cystoscopic examination had shown the bladder wall to be unduly thrown into folds, and the orifices of the ureters to be displaced somewhat from their usual situations. It was

therefore considered possible that the ureters, and also the urethra, might be kinked, causing obstruction. After the operation the

bladder wall presented a more normal appearance, and it was

concluded that the obstruction had been relieved. As, however, the patient had lived until the age of seventeen years, some re-

arrangement must have been arrived at long before the operation was done at all.

All the cases reported have been males. Some asymmetry of the skull and of the pinna; of the ears was

also noted by Garrod and Davies, and in their case there was

double talipes equinus in addition. The prow-shaped deformity of the thorax, together with the

widening of its lower margin, can be accounted for by the absence of the usual mooring down of the chest wall by the recti and other abdominal muscles. The thorax is flat at birth, and becomes

deformed with the onset of respiratory movements. The testicles were described as undescended in all the cases

except one, and in it the point was not mentioned. This would

be caused by actual blocking up of their path by the enormous bladder, interfering with the formation of the gubernacula.

The great shortening of the urachus, so that the bladder is fixed almost directly to the anterior abdominal wall, is striking. It is

accounted for by the early dilatation of the bladder. In this way the organ comes to be formed, not only from the central third of the intra-embryonic portion of the allantois, as is usual, but also from the outer third, up to the body wall. This is important, because the pull of the bladder when it empties itself is now direct on the abdominal wall, and not exerted on the lax cordlike connec-

tion of the normal urachus. In one case the urachus remained

patent.

BY DR LEWIS THATCHER 139

The appearance of the abdomen is at once very suggestive of great previous distension, which had always disappeared before birth (Figs, i and 2). In no case has any sign of previous ascites been found. The longitudinal furrows, with the umbilicus repre- sented in the bottom of one of them, can best be explained in the

following manner : Owing to the extreme intra-abdominal tension in earlier life, the deeper layers of the skin are ruptured. When

this pressure is removed, the pull of the contracting bladder, now

direct, would naturally throw the lax abdominal wall into longi- tudinal folds, and these would fall along the lines of weakness.

The microscopical examination, fully described by Batten, may be summarised as follows : The oblique and transverse muscles are comparatively well developed at the periphery posteriorly and below the costal margin. Elsewhere there is nothing to show that the muscular tissue has ever been present. The fibres of the

aponeurosis, which form a striking feature in normal sections, are here almost entirely absent. The few muscle fibres present resemble unstriped muscle, or striped muscle at a very early stage of development. There is nothing to show that atrophy of pre- viously formed muscular tissue had taken place, and the spinal cord was found to show no deviation from the normal. Guthrie, and also Garrod and Davies, described the quadrati lumborum as thin, imperfect sheets of muscle. Apart from these, no other muscular defect has been described. Mollison's case, when re-

examined after one year, was thought to show more resistance in the middle line, apparently due to further development of the

recti.

The condition of the urinary tract is typical of these cases,

and in none of them was there ever found any organic obstruction to the flow of urine.

Congenital hypertrophic dilatation of the bladder associated with dilatation of both ureters and hydronephrosis is often found without coexisting changes in the abdominal musculature.

Firstly, when secondary to an organic obstruction of the urethra. If a congenital malformation, this is usually about the posterior part, presumably because of a more complicated origin from the urogenital sinus. This obstruction may be valve-like, and there- fore not impede the passage of a catheter. Excessive phimosis has also been considered a determining cause.

Secondly, without any organic obstruction of this sort, Arzt ascribed it to hydramnios, with consequent upsetting of normal

I40 CONGENITAL ANOMALY OF URINARY APPARATUS

balances. The amniotic fluid, however, has frequently been

observed to be scanty. As an alternative he agrees with the

theory of previous temporary obstruction, such as kinking of the ureters, the neck of the bladder, or the penis. John Thomson

suggested that this obstruction is caused at the neck of the bladder, and is functional. There is a developmental defect of the nervous mechanism governing the co-ordination of the muscle, and therefore the sphincter fails to open when the distension of the viscus reaches a certain pitch. This results in hypertrophic dilatation which

may become very great. Later on, the bladder is able to empty itself, and the excretion of urine continues, even although the anatomical changes are so marked. In this way the condition

shows analogies to other congenital affections?hypertrophic sten- osis of the pylorus, and idiopathic dilatation of the colon.

It is possible that the ureteral dilatation and hydronephrosis may be a later effect, and due to partial occlusion of the intramural

portion of the ureters by the greatly hypertrophical bladder

wall. If caused by direct back pressure, the ureteral openings would be dilated, which is not found to be the case. It has been

shown experimentally that under normal conditions the intra-

ureteral pressure is very slight. A comparatively small increase results in complete stoppage of urinary secretion.

The occasional association of these changes with mal-develop- ment of the abdominal wall musculature has been explained in several ways. Bardeen, from a purely embryological standpoint, suggested two possibilities: First, that the condition of the

muscles is primary, and, owing to this lack of resistance, when the bladder begins to fill with urine it tends to expand rather than to

expel its contents through the urethra into the amniotic cavity. Second, that both conditions are due to a common cause, viz., an abnormal arrangement in the blood-vessels of the embryo, whereby the formation of the membrana reuniens?the early covering of the abdominal cavity?is interfered with. Conse-

quently, the growth of the flat enclosing muscles does not occur. At the same time, circulatory disturbances give rise to abnormal conditions found in the bladder and ureters. A third, and more

practical explanation is that first accepted by Stumme. It is

that the muscular defect is secondary to the greatly increased intra-abdominal tension caused, during some period of intrauterine

life, by the enormous size of the bladder. This suggestion is the most feasible for the following reasons :

DISCUSSION 141

1. The appearance of the abdomen is in every way very suggestive of previous great distension. The presence of the furrows, and the

abnormality of the umbilicus, has already been accounted for.

2. Nothing has been found to account for this except the enormously hypertrophied bladder, which has also expanded to its furthest

limits up to the anterior abdominal wall. 3. It is evident, from the extent of their connections, that the anterior abdominal wall and the anterior wall of the bladder have been, at one time, in very intimate contact. 4. The area over which the muscles are absent

is roughly one which would be subjected to direct pressure by a tumour in the lower part of the abdomen, and anchored to the umbilicus. Elsewhere, they are comparatively well developed.

It is therefore probable that these muscles are prevented from

growing forward in the usual manner; for it has been shown that

there is not an atrophy, but a complete lack of development of the muscular tissue. I can find no record of any other instance

of symmetrical absence of parts of several pairs of muscles. More-

over, there is a possible parallel to this mal-development from pressure in those cases of congenital unilateral pectoral defect.

In conclusion, I wish to express my indebtedness to Dr John Thomson for permitting me to publish the case, and also to Dr

Thomas Finlay, for much valuable information.

Discussion

(Mr Cotterill having to leave the Meeting, Dr Playfair here took the Chair.)

Dr Playfair said the Society had listened with the greatest pleasure to Dr Lewis Thatcher's paper, which was much enhanced

by the beautiful illustrations and very excellent sections shown. It was a special pleasure to be present on this occasion, because he believed that this was Dr Lewis Thatcher's first paper to the

?Society ; he hoped they would have many others, and, judging by this one, they would be of a high standard.

Dr Stewart Voider had really nothing to add to what had been said by Dr Thatcher, but wished to endorse the Chairman's remarks. A deformity becomes interesting when one can find other cases like it : to describe an isolated deformity, no matter how peculiar it is, is in itse-lf of no great clinical interest; it is only when you get other instances that it is of value, Dr Thatcher has collected

142 EXHIBITION OF PATIENTS

and brought together a number of cases which show that this set of malformations occur together as a definite disease. When one

compares the photographs of this case with other recorded cases they are found to be absolutely identical. He had seen a case of

considerable interest indirectly suggesting that there was much

reason for supposing hypertrophy of hollow organs to have a

functional origin. A child was admitted to hospital with a history of vomiting ; it suffered from wasting and died, as these marasmic children do, without any other definite symptoms. Post-mortem

examination showed a curious condition. The stomach was

hypertrophied and dilated, the walls being as thick as those of the

average adult organ ; the descending colon was also enormously hypertrophied, the ureters were hypertrophied and dilated to the size of the small intestine of a child. There was no obstruction

to any of these large hollow viscera as far as one could find. That

case showed that there must be some common cause for this multiple hypertrophy of hollow viscera, and of course the idea of faulty innervation suggests itself as a valid explanation. He thought the Society was very much indebted to Dr Thatcher for bringing the subject forward.

Dr Lewis Thatcher in reply thanked the Society for so kindly listening to his paper. He thought that perhaps he had not in

his paper sufficiently emphasised the absolute laxity of the abdo- minal wall.