Paper - On a group of associated congenital malformations

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Garrod AE. and Davies LW. On a group of associated congenital malformations: Including almost complete absence of the muscles of the abdominal wall, and abnormalities of the genito-urinary apparatus. (1905) Med Chir Trans. 88: 363-82. PMID 20897039

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This paper by Garrod and Davies describes a series of abnormalities of the trunk. Modern Notes: abnormal development

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On a Group of Associated Congenital Malformations

Including almost complete absence of the Muscles of the Abdominal Wall, and abnormalities of the Genito-urinary Apparatus

By

Archibald E. Garrod, M.D.

And

Liu. Wynne Davies, M.D.

Received January 5th—Read February 14th, 1905

The co-existence of several distinct congenital deformities in the same individual is common enough, but the case which forms the subject of this communication offers an example of a group of malformations which may lay claim to a special interest.

Congenital non-development of the muscles of the abdominal wall is itself a sufficiently rare abnormality, and when met with it is wont to be associated with such structural defects of the genito-urinary organs as were present in this instance. ‘The association is clearly no fortuitous one, and a study of the few recorded examples, some of which have been observed in this country, leaves no doubt in the mind that either the several items of the malformation-complex are dependent upon a common cause, or that, as is far more probable, some are primary and others are secondary to these.

The recorded cases have been collected together, and the whole subject has been discussed in a masterly manner by HK. G. Stumme (1) in a monograph which was published in 19038, but the examples are still so few that further records are called for, and Dr. F. EK. Batten’s report on the condition of the spinal cord of our patient fills in a gap in our knowledge to which Stumme refers with regret.

G. K—, a male infant, aged 8 weeks, was admitted to the Hospital for Sick Children, Great Ormond Street, on May 27th, 1903.

A. bulging forward of the chest wall and a sinking in of the abdomen were noticed immediately after the infant’s birth, and a few days later the abdomen began to enlarge, whilst the protrusion of the sternum persisted.

The patient, the youngest of a family of three, was born at full term. The eldest child died with convulsions at the age of fifteen months, the second was alive and in good health. |

On admission the infant was well nourished, the mouth was conspicuously large, and there was some asymmetry of the lower jaw. The pinne of the ears were abnormally large, and the nose was rather flattened. The palpebral fissures were somewhat oblique. ‘There was some asymmetry of the skull, with prominence of the right frontal and parietal eminences.

The thorax was obviously asymmetrical. The sternum protruded, and was tilted forwards and upwards, a pecuharity which has been observed in other cases of the kind, and which results from the lack of anchorage by the recti and other abdominal muscles.

The circumference at the level of the nipples was thirteen and a half inches, and there was an expansion of Photograph (taken after death) of the infant G. K—, showing the furrows in the abdominal wali and the deformity of the thorax.

only a quarter of an inch on inspiration. The pectoral muscles were well developed, as also were the muscles of the back of the thorax. ‘

Physical examination of the chest revealed nothing abnormal save that a soft systolic murmur was heard in the first and second intercostal spaces to the left of the sternum.

The appearance of the abdomen was very remarkable, and exactly recalled that seen in Guthrie’s case, presently to be referred to. |

The abdomen was large, flabby, and bulged in the flanks. Its surface was deeply scored by a number of longitudinal furrows, nine of which could be counted. A deep central furrow extended from the tip of the ensiform cartilage to the pubes, and in it was included the umbilicus which, as in other cases of the kind, was represented by a mere linear scar. A second deep furrow, running immediately to the right of the central one, formed a V by uniting with it below the umbilical scar. When the sides of the furrows were held apart lines of cicatricial tissue were exposed, and the grooves could not be permanently smoothed out. Besides the longitudinal furrows there were a few short and almost horizontal ones.

The distance from the tip of the ensiform cartilage to the pubes was five and a half inches, and the girth, at the level of the umbilicus, was fifteen and a half inches.

There appeared to be no muscular substance, capable of contraction, in the abdominal wall. The walls acquired no firmness when the child cried, and passing backwards the first developed muscle which could be felt was the erector spine. Moreover there was no response to Faradic or galvanic stimulation in the regions which were apparently devoid of muscular coating.

In either flank the contours of coils of intestine were plainly visible. During life there was some doubt whether these coils might not have been distended and tortuous ureters, as in Guthrie’s case.

The liver could be plainly felt, lying in the right hypoGROUP OF ASSOCIATED CONGENITAL MALFORMATIONS 367

chondrium, and with its lower border three fingers’ breadths below the costal margin.

The left kidney, also, was readily palpable, but the right kidney could not be felt during life.

The spleen descended to one finger’s breadth below the costal border, and was smooth. Neither testicle was descended, but that on the right could be made out by palpation, lying just below the region of the kidney.

The contour of the transverse colon could be seen crossing the abdomen just above the umbilicus, and the stomach, when full, stood out prominently, and measured three and a half to four inches in its long, and two inches in its transverse axis.

When the bladder was full its outlines could be clearly mapped out. It reached upwards to within a finger’s breadth of the umbilicus, to which it appeared to be anchored by its upper pole. It was distinctly spindleshaped.

The very easy palpability of the several abdominal viscera was due to the absence of any resistance from the abdominal walls.

Per rectwm.—When once the sphincter ani was passed the bowel proved to be fairly capacious. The bladder was easily palpable, as an abdominal viscus, and could be felt to contract when distended with urine. No dilatation of the ureters could be felt by the examining finger. The testes were palpable, lying below the lower poles of the kidneys.

There was double talipes varus.

The urine was of low specific gravity, was turbid, alkaline in reaction, and had an ammoniacal odour. The motions were greenish and contained undigested curd.

The child was discharged from the hospital on June 10th, but was readmitted on August 4th with a temperature of 101° F. In the lungs were small scattered patches of broncho-pneumonia.

On August 5th the temperature rose to 103° F., and a bright red area of inflammation was observed, which extended in front from the root of the neck up to the face, and was bounded by a brighter red line, which ran parallel with the alveolar process of the upper jaw.

The erysipelatous blush persisted, and the child died on August 13th. The photograph was taken after death.

The report of the post-mortem examination, which was carried out by Dr. E. P. Baumann, is as follows :

Length of body 224 inches, weight 74 pounds.

Abdomen.—The anterior abdominal wall was soft and flabby, and through it the viscera could be palpated. On dissecting away the skin, which was in most places unduly adherent to the underlying fascia, there was found to be a general failure of development of the muscles of the anterior abdominal wall. There were seen in the fascia, here and there, pinkish strands, which probably represented the remains of the obliqui, transversales, and recti1 muscles. Posteriorly the erectores spine appeared to be normally developed, whereas the quadrati lumborum were represented by thin imperfect sheets of musclefibres. |

The muscles of the perineum appeared to be normally developed. The diaphragm, intercostals (external and internal), the pectorales, and other thoracic muscles were also macroscopically normal. There was a boss over the right parietal bone, which was found, on removing the calvarium, to be an outward dent of the bone without any thickening.

The bladder was enlarged and thick-walled; it extended up into the abdomen, and from its apex a urachus, of the size of a thin lead pencil, extended to the umbilicus.

Both testicles lay loose in the pelvis. The right kidney was very small, of about the size of a large bean. The corresponding ureter appeared normal. The left kidney was perhaps rather larger than is usual in a child of four months. Its ureter was of normal size above, but in the lower half became dilated to the size of a small GROUP OF ASSOCIATED CONGENITAL MALFORMATIONS 369

pencil. There was otherwise no marked enlargement and no tortuosity of the ureters.

The capsule of the spleen was white and opaque, but on section the organ was natural. The capsule of the hver was also thickened and unduly adherent. The liver was hard, and its appearance suggested interstitial change.

Intestines natural; some congestion of mesenteric glands.

Thorax.—Nothing abnormal was found in the heart. The lungs showed changes associated with bronchitis. The bronchial glands were not enlarged.

Crantum.—The brain and membranes appeared natural.

Spinal cord.—No macroscopic changes.

We are greatly indebted to Dr. F. E. Batten, who was good enough to examine the spinal cord and the rudiments of muscular substance in the abdominal wall, and who has furnished us with the following report :

“To the naked eye the spinal cord and nerve-roots appeared normal. On section of the cord at various levels the diameter was equal to that of a normal cord from a child of the same age, with which it was compared.

“Qn microscopical examination no group of cells could be seen to be absent or diminished in number or size.

“The number of cells in the anterior horns of five consecutive sections at each level of the thoracic region were counted. |

“The difficulty of counting cells is known to all who have undertaken such work. ‘The personal factor plays an important part in such counts. The two counts were made at the same time and under similar conditions of light and stainmg. Drawings of several sections were made under the Zeiss projection apparatus.

“The following table gives the relative numbers of cells in five consecutive sections, at various levels, compared with those in the spinal cord of another child, of the same age, which showed no morbid changes. 370 GROUP OF ASSOCIATED CONGENITAL MALFORMATIONS

Spinal cord of normal child. Spinal cord of G. K. Large Small Total. Large Small Total.

cells. cells. cells. cells. 1st thoracic segment... 72 ... 31 ... 103 59... 7O ... 129 2nd » ” 338... 19 =... 52 46... 29... 75 3rd » » 35... 380. ... 65 33... 41 =... | «74 4th » » 29- ... 36... 65 47... 84... 81 5th » » 41... 42... 88 49... 41 ... 90 6th % » 33... «8340... 78 55... «29... = 84 7th » » o3... 37... 90 36... 51... = §687 8th ” » 26... 21... AT 32... 51... 83 9th ” » 385... 28 ... 68 40... 41... 81 10th i, ” 44... 84 ... 78 31... 61 ... 92 1lith » » 36... 32... 68 21. ... lll... 132 12th » ” 51... 48 = ... 94 15... 1038... +118

488 393 464 662

“The number of large cells is approximately the same in the two counts. The number of small cells is larger in the case in which the abdominal muscles were absent.”

These observations clearly lend no support to the idea that the condition of the abdominal muscles in such cases may be due to a poliomyelitis occurring during intrauterine life.

On the scantily distributed and rudimentary musclefibres in the abdominal walls Dr. F. E. Batten reports as follows :

“Sections were made of the entire thickness of the abdominal wall, the sections being cut in a horizontal direction. ‘lhey were stained by van Giessen’s method. Specimens were also prepared from a normal child for comparison with them, and these were cut in the same way, and stained by the same method.

“The total thickness of the abdominal wall from skin surface to peritoneum is as great in the abnormal as in the normal specimens.

“In the abnormal child rather more than two-thirds of the entire thickness of the abdominal wall is occupied by the epidermis, cutis, and subcutaneous tissue. The glandular elements in the skin are greatly in excess of the normal, and the true skin is of three times the normal thickness. GROUP OF ASSOCIATED CONGENITAL MALFORMATIONS 371

“The subcutaneous tissue also is greatly in excess, and is composed of a considerable layer of fat and connective tissue, which is not present in the specimens from the normal child.”

“The ‘muscular layer,’ instead of forming about twothirds of the total thickness of the wall as in the normal child, occupies but one-third of the total thickness. Small bundles of what appear to be undeveloped musclefibres are seen in this region in transverse section, and in close proximity to these some fibres cut in a horizontal direction.

“The fibres of this layer are irregularly arranged, for there are two sets of fibres cut in a transverse direction, the superposed being considerably thicker than the deeper layer, and between these a thin layer of fibres cut longitudinally.

“Except for the shape of the bundles and the arrangement of the fibres it is quite impossible to identify them as muscle-fibres, as they have neither the shape nor the striation of the normal muscle-fibres. The nuclei are elongated and rod-shaped, and, as far as can be ascertained, occupy the centres of the fibres.

“The fibres of the aponeuroses of the muscles, which form a very striking feature in the normal sections, are almost entirely absent in the sections of the abnormal muscles. In appearance the muscular fibres resemble unstriped muscle-fibres, or fibres in the early stage of development, and it would appear that arrest of development had occurred in the abdominal muscles at an early stage of their foetal hfe. There is nothing to suggest that atrophy of a normally developed muscle has taken place.

“The fact that no alteration can be found in the spinal cord is only in accordance with our present pathological knowledge of the condition of the nerve centres in cases of primary muscular atrophy.”

Of the malformations which were present in this case 372 GROUP OF ASSOCIATED CONGENITAL MALFORMATIONS

the following constituted the group of deformities which calls for special consideration :

1. The almost complete defect of the muscles of the abdominal wall, the recti, obliqui, and tranversales, and the very imperfect development of the quadrati lumborum.

2. The foetal situation of the urinary bladder, its fusiform shape, hypertrophy and attachment to the umbilical scar by a short urachus. _

3. The linear scar-like umbilicus.

4. The imperfect development of the right kidney.

5. The undescended testicles.

6. The carinated thorax and tilted sternum.

The remaining deformities, viz. :

7. The double talipes varus ;

8. The asymmetry of the skull; and

9. The abnormal size of the pinne of the ears ; may be looked upon as mere concomitant malformations, having no obvious connection with those of the first group.

Before proceeding to speak of similar cases, of which accounts have been published, we have Dr. F. EH. Batten’s permission to refer to a case recently under his care as an out-patient at the Hospital for Sick Children, which one of us had an opportunity of examining.

_ This patient also was a male child, born at full term. At birth the anterior wall of the abdomen appeared ‘‘ plastered down ”’ to the spine, and the thorax was drawn upwards and tilted forwards. When seen, at the age of nine months, the appearance of the abdomen closely resembled that observed in our patient. The skin showed similar grooves and furrows, and no trace of functionally active muscles in the abdominal wall could be made out. The abdominal viscera were easily palpable, including the bladder, which occupied the foetal position and appeared to be attached by a urachus to the umbilical scar.

The child afterwards died at its home of some intercurrent disease, and no post-mortem examination was GROUP OF ASSOCIATED CONGENITAL MALFORMATIONS 373

made. ‘The case obviously belonged to the same group as that which we have described and others presently to be referred to.

Stumme has collected seven cases from the literature in which there was a failure of development of the abdominal muscles, and adds to these an eighth observed by himself. Five of these cases resemble those which we have described more or less closely, whereas in the three remaining cases the resemblance is much less striking, and the published accounts of some of them are very brief. We have not been able to find any cases to add to Stumme’s list, nor do we know of any recorded since his paper appeared.

Three of the cases may be dismissed in a few words.

In 1839 Frohlich (2), in a thesis which has not been accessible to us, described a male child who presented a defect of the lateral abdominal muscles and a condition of pigeon-breast. However, the recti abdominis were developed, and, as the condition of the bladder is not mentioned, even in the account of the post-mortem examination, we may conclude that it was normal. The testicles, moreover, lay in the scrotum.

In a case described by F. A. von Ammon (83) in 1842 there was a defect of the lower segment of the recti and of other muscles of the lower part of the abdominal wall. The patient was a male child. The bladder is not mentioned. The defective muscles are stated to have become developed at about the time of puberty.

In 1890 B. Henderson (4) recorded the case of a man, aged 60, who had a similar defect of the abdominal muscles, including the lower segments of the recti. The testicles were not descended, but there is no mention, in the brief account of the case, of any abnormality of the urinary bladder.

The main features of the remaining five cases we have arranged in tabular form, which is best calculated to bring out the points of resemblance in and differences between them. 374 GROUP OF ASSOCIATED CONGENITAL MALFORMATIONS

Name of observer.

I. W. iB. Platt (5), 1898. (As we have been unable to consult the original paper the details are given from Stumme’s abstract)

II. R. W. Parker (6), 1895. Fatal case.

Post-mortem examination

III.

L. Guthrie (7), 1896. Fatal case. Post-mortem examination.

IV. W. Osler (8), 1901

Vv.

E.G. Stumme (1), 1903. Laparotomy ; vertex of bladder was freed, and the dilated left ureter

was connected with the bladder

patient. Age. Shape of chest. Male| 2 Not stated, but years| shown in the figures to be deformed Male |Newly; Thoracic cavity born | small Male; 9 Pigeon-breast, weeks} and costal arch unusually wide Male| 6 years| well marked; lower part of sternum thrust forward, almost at a right angle with the xiphoid cartilage Male| 17 | Broad and very years| flat; sternum

depressed at level of sixth rib, and coming forward again at xiphoid cartilage

Appearance of abdomen.

Skin doughy and irregular; horizontal furrows

seen in the pictures

Large and very flaccid ; skin over it wrinkled and inelastic; outline of coils of intestine

clearly seen

Flaccid, bulging laterally ; deep vertical furrows of skin, which could not be smoothed out; what appeared to be coils of intestine, but were really coils of ureter, seen in both flanks

Harrison’s sulcus|Flattened out, bulging

in flanks in recumbent position ; coils of intestine seen in peristalsis ; furrows of skin,“ crows’ feet,” below the um_bilicus

Protuberant when standing; bulging in flanks in recumbent position; between xiphoid cartilage and umbilicus a number of horizontal folds of skin; a vertical furrow in middle line from xiphoid cartilage to umbilicus, forking above umbilicus; at bottom of

this groove alinear scar.

Umbilicus.

A vertical slit ; beneath it a hard, flat scar

Not depressed ; normal in

position ; had the appearance of a surface scar

Represented by | a white linear cicatrix; at the bottom of a furrow; normal in position

Linear, forming a furrow about an inch in length

A flat depression the size of a two-mark piece, with a central scar GROUP OF ASSOCIATED CONGENITAL MALFORMATIONS 375

Abdominal muscles.

Bladder.

Kidneys and | Testicles,

ureters. Electrical examination; recti de-|Bladder could not be — Not developed in their entire length,) made out either by scended. but very imperfectly; fibres of} palpation or by percusboth external obliques present ;} sion. Prepuce easily presence of internal obliques un-| retracted certain; no sign of transversales P.M.—Latissimus dorsi slightly de-/Bladder greatly hyper-| Pelves of Undeveloped; a band of fibres repre-| trophied; abdominalin| kidneys and |scended. sented external oblique; erector| position; at the apexjureters greatly|Both lay spine well developed ; quadratus| of trigone bladder wall; dilated and | in iliac lumborum normal; rudiments of| closely adherent to rec-|hypertrophied ;| fosse, internal oblique; transversalis| tum; no signs of ure-| orifices of quite quite absent; a thin layer of fibres} thral obstruction. Pre-| ureters free; | free represented upper segment of] puce easily retracted.| kidneys large |from the rectus; lower segments wholly) No mention of any at-| and yellowish: | internal wanting, or represented by mere] tachmentofthebladder|white in section] rings. traces of muscular fibres to the umbilicus P.M.—Only thetwo upper segments|Bladder much hypertro-} Kidneys not Not of the recti show any muscular| phied, lying wholly in| enlarged, but | menfibres; the costal margins of| abdominal cavity; its|much inflamed; tioned. the obliqui and_ transversales} apex firmly adherent tojureters dilated showed muscle fibres for about two} the back of the umbili-|to size of small inches below the ribs; such fibres] cal scar; no trace of/ intestine of an reappeared in the iliac regions ;) urachus. No obstruc-| adult; very latissimi dorsi well developed, also| tion of urethra; no, tortuous; erectores spine; quadrati lum-| phimosis orifices free borum rudimentary Attachments of upper segments of/Bladder felt as a firm|No information| Not derecti to costal margin and sternum| ovoid body, reaching| could be jscended; clearly seen. Examination showed] almosttothe umbilicus! obtained not felt that the boy had practically no in abdominal muscles groins. Electrical examination:—Recti pre-|Bladder very large, fusi-| Right kidney | Not desent above the umbilicus. Of the} form; attached to the| movable, jscended; lateral muscles, the transversales| umbilical scar by ajenlarged; left} could gave the best response. Theex-| band as thick as a| kidney very | not be ternal obliques responded, but] pencil, and 3—4 cm. in| small. Left {palpated very feebly ; the internal obliques} length . ureter as large| externgave no response; quadrati lum-| ~ asalamp ally; left borum responded well chimney ; right| testicle ureter of the |lay near size of alittle| the finger internal ring. 376 GROUP OF ASSOCIATED CONGENITAL MALFORMATIONS

A comparison of these cases, numbered I to V, and of our own case, and Dr. Batten’s, which will be referred to as VI and VII respectively, brings out the following points :

a. All the patients were of the male sex.

g. In none was there any evidence of existing obstruction to the outflow of urine, either from phimosis or any blocking of the ureters or urethra.

. In several cases conspicuous deformity of the thorax was noted, but the form varied considerably. In several cases there was a tilting of the sternum forwards and upwards, III, IV, VI, VII.

§. Furrowing of the skin of the abdomen was noted in several cases. In some it was very conspicuous, III, VI, VII, in others comparatively trifling, IV, V.

z. In all the umbilicus resembled a scar, and was in most cases linear, I, III, 1V, VI.

c. In all there was a conspicuous lack of development of the abdominal muscles, but in none were all traces absent. The upper segments of the recti were more or less fully represented in almost every instance.

n. In all cases except I the bladder lay wholly in the abdomen in the fcetal position. In Case I there was no evidence of its presence there, but the umbilicus was linear and scar-like.

@. In all cases in which the poimt could be verified, except Cases I and II, the bladder was attached to the umbilicus either directly or by a urachus.

1. In Cases II, III, and V there was conspicuous dilatation of the ureters. In VI there was only very slight dilatation of the lower part of one ureter. In the other cases no information on this point could be obtained.

x. In Cases V and VI there was conspicuous inequality of the sizes of the two kidneys.

\. In all cases (except III, in connection with which the testicles are not mentioned) the testicles had not de scended. The chief points in which our case differed from the GROUP OF ASSOCIATED CONGENITAL MALFORMATIONS 377

rest is in the absence of any noteworthy dilatation of the ureters, and in the presence of other malformations, such as talipes varus. .

Let us now pass on to consider briefly the relationship to each other of the several abnormalities which these cases present.

Dr. Bardeen, to whom Professor Osler referred the problem, and who is entitled to speak with special authority on the development of muscular structures, suggested two possible explanations, which may be quoted in his own words:

“1. It is possible that the lack of resistance normally met with in the abdominal wall by the bladder, at the time when the kidneys begin to secrete urine, may cause the bladder to expand rather than to empty secretions into the amniotic cavity through the urethra.

“©2. Under normal conditions the growth of the abdominal musculature into the membrana rewniens, the early covering of the abdominal cavity, is preceded by the formation of a vascular plexus, supplied from above from the internal mammary, from below by the epigastric artery. It is possible that an abnormal arrangement of the bloodvessels in the embryo prevented the formation of this plexus, and impeded the growth of the abdominal musculature, and that, at the same time, circulatory disturbances gave rise to the abnormal conditions found in the bladder and ureters.”

Besides the possibilities here suggested, viz. that the bladder condition is secondary to the muscular, or that both result from a common cause, there is a third possible explanation which is favoured by Stumme.

Stumme, after discussing fully the embryological questions involved, summarises his conclusions in a passage, of which the following is a translation :

“ As the result of an occlusion of the urethra, occurring at a comparatively late period of embryonic life, retention of urine occurred, to which the bladder, and afterwards the ureters, responded by hypertrophy and dilatation. 378 GROUP OF ASSOCIATED CONGENITAL MALFORMATIONS

By pressure of the much dilated bladder atrophy of the greater part of the rectus abdominis, or at least of the entire sub-umbilical portion of that muscle, was brought about; again the stretching, aided by pressure from the dilated ureters, led to a similar symmetrical atrophy of the lateral muscles of the abdominal wall.

“The enlargement of the bladder led to fusion of its vertex with the umbilicus, and later to the formation of a urachus. Moreover, by pressure upon the umbilical vessels, it caused a diminution of the blood-supply on the one hand, resulting in deficient nutrition of the embryo; and, on the other hand, by interfering with the return of blood from the embryo, it rendered possible the development ‘of ascites, and a resulting further increase of the abdominal extension. Lastly by obstructing the entry to the inguinal canal, it hindered the entry of the testicle into the processus vaginalis, and its descent into the scrotum. :

“Later on the cause of the retention of urine disappeared. The abdominal walls, which had been stretched to a greater or less extent, became thrown into folds and contracted, owing to the increase of amniotic fluid which resulted from the outflow of urine into it. The bladder also shrank, but was unable to sink down into the lesser pelvic cavity, on account of its being fixed to the umbilicus, and of the altered conditions in the pelvic flood.”

We are inclined to accept the view, here put forward, that the condition of the abdominal musculature is secondary to dilatation of the bladder, and for the following reasons :

The appearance of the abdomen in such cases suggests that at some period it has been greatly distended by pressure from within, and the linear cicatrices at the bottom of the deep cutaneous furrows, observed in some cases, may have resulted from splitting of the deeper layers of the much stretched skin. On the other hand there can be no doubt that any such distension had already disappeared before the patients were born, for in more GROUP OF ASSOCIATED CONGENITAL MALFORMATIONS 3879

than one case the abdomen was said to have appeared peculiarly flattened at the time of birth.

It is noteworthy that in no instance were the abdominal muscles completely absent, and in the case of the recti the defect of the lower segments was much more pronounced than that of the upper. This strongly suggests that the development of the muscles was not primarily at fault, but that either their development was interfered with by pressure from within the abdomen or that the muscles had originally been formed in the normal manner, but had undergone atrophy from a similar cause. That such atrophy was due to a poliomyelitis can hardly be supposed in the light of Dr. Batten’s report on the spinal cord of our patient, and the very careful dissection carried out in Guthrie’s case showed that the muscles were comparatively well developed near their peripheral attachment, whereas the central and anterior portions were much more defective. This is Just what might be expected if their condition were due to the pressure from within exerted by a central viscus, such as a distended bladder. However, as we have seen, Dr. Batten considers that the microscopical appearance of the rudiments of muscles present in the abdominal wall suggest a failure of development rather than an atrophy.

The temporary obstruction during intra-uterine life, which Stumme’s theory involves, is not very easy to explain, and it must be remembered that in no instance was any condition observed which would account for urethral obstruction, not even a tight prepuce.

The fact that all the patients have been males tempts one to ascribe the obstruction to some kinking or constriction of the penile urethra, but as Stumme points out, there is another possible explanation. In his case a cystoscopic examination, made before the laparotomy at which the apex of the bladder was freed from the umbilicus, showed a deep fold in the anterior wall of the bladder and a displacement of the orifices of the ureters, which lay obliquely and almost in a line with each other ;

VOL. LXXXVIII. 26 380 GROUP OF ASSOCIATED CONGENITAL MALFORMATIONS

after the operation the anterior fold had disappeared, and the orifices of the ureters had assumed their normal relations. He therefore suggests that the tugging of the urachus may have caused some obstruction of the intramural portions of the ureters, and of the vesical orifice of the urethra also. However, as Stumme points out, this necessitates an attachment of the upper pole of the bladder to the umbilicus as the prime factor, whereas such attachment has not been shown to be present in all cases.

Stumme is inclined to agree with Guthrie in attributing the abnormality of the umbilicus to the drag of the distended bladder upon it, but it is noteworthy that in Platt’s case, in which no evidence of abnormal situation or size of the bladder was forthcoming, and in Parker’s case, in which no attachment of the bladder to the umbilicus is mentioned in the report of the autopsy, similar abnormalities of the navel were observed.

The condition of the thorax in our case, and the similar deformities observed in other cases, seems to be sufficiently explained by the want of the anchorage which under ordinary circumstances is supplied by the abdominal muscles.

REFERENCES.

1. E.G. Stummz.—Ueber die Symmetrischen kongenitalen Bauchmuskeldefekte und iiber die Kombination derselben mit anderen Bildungsanomalien des Rumpfes. Mitteilungen aus den Grenzgebieten der Medizin und Chirurgie, x1, 548, 1903. |

2. FrouLtico.—Der Mangel der Muskeln inbesondere der Seitenbauchmuskeln. Dissertation, Wurzburg, 1839.

3. F. A. von Ammon.—Die angeborenen chirurgischen Krankheiten des Menschen, 1842, p. 59.

4. B. Henprerson.—Congenital Absence of Abdominal Muscles. Glasgow Medical Journal, xxxin, p. 63, 1890.

5. W. B. Prarr.—A rare case of Deficiency of the Abdominal Muscles. Philadelphia Medical Journal, 1, 738, 1898.

6. R. W. Parxer.—Case of an Infant in whom some of the Abdominal muscles were absent. Transactions of the Clinical Society of London, xxvin, 201, 1895.

7. L. Gurarie.—Case of Congenital deficiency of the Abdominal Muscles. Transactions of the Pathological Society of London, xlvu, 189, 1896.

8. W. Oster.—Congenital Absence of the Abdominal Muscles with Distended and MHypertrophied Urinary Bladder. Johns Hopkins Hospital Bulletin, xii, 331, 1901.

Discussion

Dr. Lronarp G. GuTHRisz said that in his case he believed the testicles were in the scrotum. He disagreed with the author’s explanation of these cases as being due to some kinking or constriction of the penis which left no traces, but assuming that the faulty development of the abdominal muscles was primary, he thought that emptying of the fcetal bladder when surrounded with the liquor amnii might be difficult, and so lead to hypertrophy of the bladder. The dilatation of the ureters might be secondary to attachment of the summit of the bladder to the anterior abdominal wall leading to mechanical obstruction of the ureters. There was no direct evidence of any temporary obstruction to the urethra during intra-uterine life, and such would have to be in operation a very long time to bring about these effects. The case described in the paper was almost identical with his own. |

Dr. E. Farquyar Buzzarp was inclined to agree with Dr. Guthrie, and supported the view that arrested development of the abdominal muscles might be held to explain the other abnormalities in these cases. Before hypertrophy of the bladder had time to arise, dilatation of the bladder and ureters would take place owing to the accumulation of secretion which was not properly expelled in the absence of abdominal muscular contraction. He cited other instances of congenital symmetrical absence of certain muscles which he had observed.

Dr. G. Newton Pirr asked whether the hypertrophy of the bladder wall was uniformly distributed. Usually in a hypertrophied bladder the anterior wall is much the thicker, because the abdominal wall, holding up the bladder, flattens the anterior surface and reduces the curvature of that part. In the absence of the abdominal muscle the bladder should be spherical and the thickness of the wall uniform.

Dr. GaRRop, in reply, said that he fully recognised the difficulty of explaining the theoretical urinary obstruction during foetal life, but it appeared to him that the evidence for the view that the urinary condition was primary was stronger than that opposed to it. He could not answer the question as to the relative hypertrophy of the bladder on its anterior and posterior walls, as he was himself away when the autopsy was made, and the point was not mentioned in the notes.

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Cite this page: Hill, M.A. (2024, May 19) Embryology Paper - On a group of associated congenital malformations. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Paper_-_On_a_group_of_associated_congenital_malformations

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