Talk:Paper - Congenital defects in the diaphragm (1940)
THE AMERICAN JOURNAL OF PATHOLOGY
VoLumE XVI NOVEMBER, 1940 Numsrr 6
CONGENITAL DEFECTS IN THE DIAPHRAGM *
AVERILL À. LiEBow, MD. AND HERBERT C. Mizcer, MD.
(From the Departments of Pathology and Pediatrics of the Yale University School
of Medicine, New Haven, Conn., and the Meriden Hospital, Meriden, Conn.)
Defects in the diaphragm with displacement of the abdominal viscera into the thorax have intrigued observers since the days of Paré. Four cases of the massive congenital type recently came to our attention. Together with 5 other cases from the records of 4000 autopsies at the New Haven Hospital they form the subject of this report. Certain possibly important anatomical features, particularly the relations of the serous membranes and vessels and their variations, have received scant attention heretofore. The material at hand, furthermore, affords us the opportunity of analyzing critically previous theories of pathogenesis, of reviewing significant clinical data, and of examining the anatomy with the possibilities of therapeutic approach in mind.
TYPES AND INCIDENCE
Statistics: Congenital hernias are much less frequent than the acquired or traumatic type but form a clinically significant group. Hedblom classified 116 of 600 diaphragmatic hernias as congenital in origin. The group has recently been subdivided by Gruber into three maïn classes as follows:
1. Those resulting from (a) defect in the Anlagen (agenesis), or (b) failure of union of the Anlagen. Total failure of development of the diaphragm or of half of the diaphragm is exceedingly rare. The phrenic nerves in such cases are absent on the affected
+ Received for publication January 31, 1940.
707 708 LIEBOW AND MILLER
sides and there is no trace of a crus. The commonest type of congenital hernia, however, results from failure of union of the Anlagen. This is also referred to as a “false hernia” because no peritoneal sac precedes the ectopic viscera.
2. Those resulting from defects in the united diaphragm; (a) failure of deposition of muscle, general or local (true hernias). A type of the latter is the hiatus hernia, e.g. parasternal (Fitzmaurice-Kelly); (b) diverticulum, that is, a localized outpouching of the definitive muscular or tendinous structure (Glaser).
3. Those displacements of the viscera resulting from dystopia of the diaphragm because of agenesis of the lung. Cases in this group are so rare as to be curiosities (see Schmit).
It is obvious that Types r and 3 must have their origin earlier in ontogeny than Type 2.
Large defects are situated in the dorsolateral part of the diaphragm. They are the most frequent of the congenital types and will be the chief subject of this report. They are either of Type 1b or 2a of Gruber. Of 256 congenital cases reviewed by Liepmann 208 were in the dorsolateral part of the diaphragm, but only 17 were through the sternocostal foramen, 16 in the centrum tendineum and 5 through the esophageal hiatus.
“False” hernias (Gruber, Type 1b) are more frequent than “true” (Gruber, Type 2a). According to Jahn the latter comprise only 10-12 per cent of all of the massive congenital types, but Caiïlloud states their incidence to be as high as 1 in 4.
Hernias are said to be more frequent on the left side but authorities differ slightly as to their predominance, 75-85.3 per cent (Caïlloud, Hedblom, Jahn, von Gôssnitz). Jahn, quoting the data of Thoma, Grosser and Eppinger, states that 31 per cent of true hernias are on the right but that only r9 per cent of false hernias are on this side. Possible reasons for this disparity will be presented when the mechanism of the hernias is discussed. In a long series tabulated from many sources von Güssnitz found males to be more often affected than females (65.4-34.6 per cent) but not in such excess as in the traumatic type.
To preserve the relations of the large defects a method was employed whereby the membranes and viscera were permanently CONGENITAL DEFECTS IN DIAPHRAGM 709
preserved without disfiguring the body. The parts were first examined ## situ. The spinal column was then transected at the eighth thoracic vertebra and again in the upper lumbar region. The entire costal arch together with the lower part of the sternum was left intact, in articulation with the spinal column posteriorly. All of the thoracic and abdominal viscera were then shelled out in relation with the entire serous body wall. Thus the hoop formed by the costal arch and spinal column served to support the hernial orifice, membranes and viscera. Cases 1, 2, 3 and 4 were studied by this method and were permanently preserved in modified Kaiserling fluid. Data in the other cases were obtained from records at the New Haven Hospital.
Case 1. False Hernia *
Clinical History: This male child was born of a healthy mother aged 32 years after a labor of 2534 hours. The mother had had 1 previous pregnancy, spontaneously terminated in an abortion at 2 months, about 1 year previously. The last pregnancy and labor were uncomplicated.
Valiant attempts to breathe were made by the infant but the lungs could not be expanded even when artificial inflation by means of a tube was attempted.
Clinical Diagnosis: ? tracheal atresia.
Anatomical Diagnoses: Congenital defect in the diaphragm (left); intrathoracic ectopia of the stomach, small intestine, colon and spleen; dextro-displacement of mediastinum; and pulmonary atelectasis involving particularly the left lung.
Externally this large (3500 gm., 53 cm.) infant shows nothing of note. The abdomen is not distended but is firm to palpation and dull to percussion. When the abdominal incision is made only portions of the liver and large intestine are found within the peritoneal cavity. Palpation and inspection reveal a large opening in the diaphragm through which the remaining viscera have entered the left thoracic cavity. They are not preceded by a hernial sac. The right half of the diaphragm is intact. The posterior wall of the thorax is lined by a mesothelial membrane continuous with that of the peritoneum. The ectopic organs have compressed the bilobed left lung to a completely airless mass of dark red tissue and have displaced the mediastinum entirely to the right of the
+ Meriden Hospital, autopsy No. M2. 710 LIEBOW AND MILLER
midline. Only the anterior margins of the three lobes of the right lung are crepitant. There is no evidence of obstruction of the trachea and bronchi and the heart displays no anomalies.
The defect in the diaphragm is 4 cm. anteroposteriorly and 5 cm. transversely. Anteriorly the left half of the diaphragm is represented by a sickle shaped muscular band which disappears at about the anterior axillary line. Posteriorly a few muscle fibers arch over the esophagus as it bends to enter the stomach. This wisp of fibers then curves caudally to become parallel with those of a left crus. The crus on the right side is larger than that on the left.
At the first inspection the abdominal viscera seem to be arranged in a confused fashion, but if the point of view is taken that the median sagittal plane of reference for these organs in their typical position has undergone rotation through an angle of 90 degrees counterclockwise as the stomach, spleen, most of the intestine and half of the liver enter the thorax, then their arrangement is seen to be quite orderly (Fig. 1). Thus the falciform ligament has an almost horizontal position and the left lobe of the liver lies within the thorax. In its free (left) edge runs the ligamentum teres which enters a deep groove in the right lobe before it attaches to the wall of the abdomen. Long tongues of hepatic tissue surround the ligament in its course toward the porta. The gall bladder has its usual position on the posterior surface of the right lobe and its fossa defines one border of the prominent quadrate lobe. It is continuous with a cystic duct which joins with the common hepatic duct and comes to lie in the free edge of a lesser omentum that has its typical attachments and relations. A foramen of Winslow is present and the caudate lobe forms the roof of the lesser omental bursa. Toward the left the lesser omentum attaches to the esophagus as this structure emerges from the posterior mediastinum. The stomach is so twisted that the greater curvature is directed to the left whence arises the greater omentum. The posterior face of this diaphanous membrane has become adherent to the long transverse mesocolon, receives in its second portion the common bile duct and pancreatic duct, and is so curved that a concavity is directed toward the left, embracing the head of the pancreas. A view of this organ is obtained by incising the greater omentum to expose the floor of the omental bursa and CONGENITAL DEFECTS IN DIAPHRAGM 71I
by dissecting at the root of the mesentery. The head of the pancreas lies at about the level of the first lumbar vertebra, much further to the left than usual. Its neck, body and tail are buried in the fatty tissues at the root of the mesentery. The duodenum becomes the first part of the jejunum by emerging from its buried position beneath the attachment of the transverse mesocolon which must be reflected upward to expose the transition. A Treitzian ligament is attached to the jejunal flexure. The small intestine lies entirely within the thorax and is of about the usual length for the newborn. It has a long fan shaped mesentery at whose root the superior mesenteric artery enters from beneath the inferior edge of the pancreas. The junction with the cecum occurs just above the costal arch. A long thin appendix arises from the cecum. Superior and inferior ileocolic ligaments and a mesoappendix are well defined. The ‘“ascending colon” pursues an oblique course caudally and to the right but bends sharply upon itself at the hepatic flexure where the transverse mesocolon is developed. Here the relations of the large intestine and its membranes to the greater omentum have already been described. The transverse colon courses cephalically and to the left but at the splenic flexure changes suddenly to the opposite direction as it loses its mesentery. The descending colon is the most lateral structure. It is now plain that the small intestine is situated in the frame created by the large, as it were (Fig. 2). Just beyond a short free cecal pouch the ascending colon becomes attached to the sigmoid and then to the posterior wall of the abdomen by means of a membrane, as if it were in the retroperitoneum; in the thorax it is attached similarly for a short distance to the root of the mesentery, but then acquires a mesosigmoid that inserts above the root just below the twelfth rib. Laterally, above the upper pole of the left kidney, is formed the phrenicocolic shelf, and the intestine again becomes retroperitoneal within the abdomen. The sigmoid acquires a mesentery in the abdomen near the pelvis of the left kidney. Both kidneys have their usual relations to the vertebral column and ribs and lie in the retroperitoneum surmounted by the adrenals. No anomalies are noted in the ureters or in the pelvic organs. The central nervous system and cervical organs are not examined.
It is of great interest that none of the ectopic viscera have 712 LIEBOW AND MILLER
become attached to the pleural surfaces. It is thus possible to insert the hand down the posterior wall of the thorax without meeting obstruction until the structures below the twelfth rib are reached. All of the membranes of the gastro-intestinal tract attach below this level. Molding of the liver renders restitution of the abdominal viscera difficult in gross. Were there less gas and meconium in the gastro-intestinal tract it might be possible to restore the viscera to the abdomen, despite the atypical attachments of the pancreas and root of the mesentery.
Case 2. True Hernia *
Clinical History: This white female infant was the sixth child. Four siblings are alive and well: the fifth died following an operation of unknown type performed on the 2nd day of life. The mother was 40 years of age. Her Kahn reaction was negative. The pregnancy was uncomplicated but labor was precipitate and unattended by a physician. The infant, who weighed 3625 gm., was found shortly after birth face down in a pool of bloody amniotic fluid. She was admitted to the hospital from the Outside Obstetrical Service because of cyanosis and difficulty in breathing. Both the cyanosis and dyspnea persisted during the 4 hours of life. Respirations were slow and irregular. There was a large amount of bloody mucus in the mouth and pharynx, which was suctioned out with no relief of symptoms. The chest was everywhere dull to percussion except for resonance at the right base posteriorly. Coarse loud râles were heard over the whole right side. The apex impulse of the heart was in the fourth interspace to the right of the sternum. The abdomen was doughy to palpation and the liver edge was made out to be two fingerbreadths below the costal margin. The clinical impression following the initial examination was massive atelectasis due to the aspiration of amniotic fluid. Roentgen study shortly afterward showed a diaphragmatic hernia on the left with displacement of the mediastinum to the right. Because of increasing tympany in the left axilla a stomach tube was passed which allowed air to escape under pressure, but no improvement in the infant's condition was effected by this procedure. The respirations ceased a few minutes later. The infant's temperature on admission was 94.7 F. and in spite of all efforts to raise it the temperature remained at this level during the 2 hours she was in the hospital.
Clinical Diagnoses: Diaphragmatic hernia and congenital atelectasis.
Aratomical Diagnoses: Congenital diaphragmatic hernia (left); intrathoracic ectopia of the spleen, stomach and intestine; dextrodisplacement of the mediastinum; and pulmonary atelectasis involving particularly the left lung.
At autopsy the body is that of a well developed female infant, 4165 gm. in weight and 53 cm. in length. With a few exceptions
+ New Haven Hospital, autopsy No. 376. CONGENITAL DEFECTS IN DIAPHRAGM 713
the findings are almost identical with those of the preceding case. The ectopic viscera and the opening in the diaphragm which allows their escape from the abdomen are the same in both cases. The liver projects into the pleural cavity less than in the previous case (compare Figs. r and 4). Reflected over these viscera as a hood, however, and attached on the right to the stomach is a delicate membrane (Fig. 4), which continues posteriorly to invest the right face of the esophagus and a small mass of muscle which arches over this structure to form a left crus. Anteriorly it attaches on a projecting margin of the left lobe of the liver and mesially on the upper aspect of a sickle shaped lamina of diaphragmatic muscle. On the left and posteriorly the membrane inserts at about the region of the costal arch, from which it spreads as a sac toward the right preceding the ectopic viscera. It is not adherent to the pleura or to any of the abdominal organs except the stomach. The orifice of the hernial sac measures roughly 4 cm. transversely and 3 cm. anteroposteriorly. These relations make the origin of the hernial sac clear. It is probably a portion of pleuroperitoneal membrane within which muscle fibers have failed to develop (Type 2a of Gruber). In confirmation of this view is the fact that laterally it has the attachments of the diaphragm and that a few muscle fibers are here circumferentially disposed.
Again the left lung is completely atelectatic, the mediastinum is displaced to the right of the midline, and the right lung is only partially expanded. There are no cardiac anomalies. Also, complete rotation of the intestine has occurred. The positions and relations of the stomach and spleen, and of the large and small intestine, are almost identical with those of the preceding case and the greater and lesser omentum and the mesocolon have their typical attachments.
The relations of the ascending colon are different from those in Case 1. It has no mesentery and is buried beneath the serosa of the posterior wall of the body to the right of the narrow insertion of the mesentery of the small intestine and is not attached to the sigmoid as in Case 1. Again there is a phrenicocolic ligament where the descending colon begins just above the left adrenal. The mesentery of the small intestine fans out from a very narrow line of attachment which is to the pancreas and posterior wall of 714 LIEBOW AND MILLER
the hernial sac in the thorax, far from its usual site obliquely across the midabdomen. There is no foramen of Winslow although a definite lesser omental bursa exists. The cystic duct is thus buried in the retroperitoneum, but, characteristically, joins the common hepatic duct and enters the duodenum upon a prominent papilla immediately after union with the duct of Wirsung. A small duct of Santorini opens at a separate papilla proximal to that of the choledochal duct. The pancreas is large and is situated in the concavity of the duodenum. Its body and tail are buried in the posterior wall of the hood-like hernial sac between the stomach and descending colon rather than in the posterior wall of the body. It lies at about the level of the first lumbar vertebra. A small corner of the left lobe of the liver projects into the left pleural cavity. On one side it attaches to the sickle shaped muscular band previously described; on the other its serous surface is continuous with that of the stomach and the hernial sac, which makes a complete hood except for the foramens through which tags of greater omentum protrude. Except for distortion of the lobes of the liver by the oblique course of the round ligament the lobes and ligaments do not differ from the usual. The organ measures 11 by 7 by 4 cm. The kidneys, adrenals and the female pelvic viscera again are abdominal in position and present no abnormalities. The upper pole of the left adrenal is just below the twelfth rib.
Inspection of the fresh specimen indicates that the only difficulty in the way of reduction of the hernia is in the gaseous distention of the stomach and the meconial distention of the intestines. The small size of the herniated portion of liver makes the possibility of reduction seem more favorable than in Case 1. Despite this, ready means of closing the hernial orifice are lacking.
Case 3. False Hernia, Anomaly of Heart *
Clinical History: This white female child was born of an apparently healthy mother at what was calculated to be the 8th month. Pregnancy and labor were uneventful. the latter lasting about 12 hours. The mothers Kahn reaction was negative. At birth the child was cyanotic and did not breathe spontaneously. Artificial respiration was conducted for 51 minutes. when the heart stopped. The child weighed 1125 gm. and was 35 cm. long. External examination revealed that it was obviously premature. The palate was found to be completely cleft and hammer toes were noted bilaterally. The heart was displaced to the right but was regular in rhythm and forceful in beat. Only a
+ Meriden Hospital, autopsy No. M20. CONGENITAL DEFECTS IN DIAPHRAGM 715
small zone above the heart on the right side transmitted breath sounds. The left side was tympanitic to percussion. On the right side of the abdomen was palpated a large mass, thought to be the liver. The child died about 1 hour after birth.
Clinical Diagnosis: Congenital diaphragmatic hernia.
Anatomical Diagnoses: Multiple congenital defects. (1) Agenesis of diaphragm (left) with intrathoracic ectopia of small and large intestines, stomach and spleen; atelectasis of left lung; and dextrodisplacement of mediastinum. (2) Persistent left and absent right superior vena cava; dextroposition of aorta; patent interventricular septum and ductus arteriosus. (3) Horseshoe kidney; cleft palate; and hammer toes.
At autopsy the body is that of an obviously premature female infant weighing 1125 gm. The auricles are rounded and display an incomplete development of conchal folds. A large central defect in the palate connects the nasal and buccal cavities. Lateral ridges above the gums represent the remnants of the palate. Hammer deformities are present in the toes of both feet.
On palpation of the abdomen a firm mass filling most of the right side is felt. In contrast is the deep fossa that meets the fingers on the left. The hand can invert the skin and be introduced high into the hypochondrium on this side.
When the peritoneal cavity is opened the reason for the findings on external palpation is clear. The liver occupies most of the peritoneal cavity. Most of the abdominal viscera except the descending colon and about one-third of the loops of small intestine lie within the left thoracic cavity. They are not preceded by a hood of peritoneum but come directly into contact with the pleura on all sides. The heart is markedly displaced toward the right and the left lung is a bilobed lappet of solid dark red tissue compressed against the mediastinum. The right lung is larger but likewise is not crepitant. Patent bronchi lead from the trachea into each lobe.
The heart lies within a thin walled pericardial sac that is surmounted by a small mass of gray thymic tissue. The great vessels originate exceedingly close together at the top of the aortic arch. Remarkable changes have occurred in the heart. At the inferior angle of the huge right atrium enters the inferior vena cava. To the left of its point of entrance, guarded by a fold of endocardium, is the orifice of what is thought to be the coronary sinus. Postero716 LIEBOW AND MILLER
superiorly where one would expect to find the opening of the superior vena cava, one sees only a large, thin walled blind pocket. Further inspection, however, reveals coursing obliquely upward and to the left a large tubular projection of the right atrium which becomes continuous with a left superior vena cava. This lies posteriorly of the left atrium, separated from it merely by a thin wall. The aorta is dextroposed and has an origin from the right ventricle as well as from the left. There is no foramen ovale to connect the auricles but the ductus bottali is open and a probe can also be passed from the right to the left ventricle between closely apposed bundles of muscle.
The opening in the diaphragm is oval and measures 4 cm. anteroposteriorly and 3 cm. transversely. Beginning as a shelf 2 cm. broad at the mediastinum anteriorly, muscular tissue gradually narrows as the anterior axillary line is approached. Posteriorly a much narrower ribbon of muscle crosses the esophagus and is lost behind the pleura of the posterior wall. It is therefore clear that no trace of diaphragm exists for about a third of the lateral portion. Despite the presence of most of the abdominal viscera in the thorax there are no adhesions to this membrane and none of the abdominal viscera can be considered retropleural. Pivoting about the esophagus, the stomach has turned upside down, so that its anterior (embryonically left face) is now right. À gastrocolic and gastrosplenic ligament is present. These become continuous with the serous lining of the posterior wall of the body just below the twelfth rib. The spleen thus lies cephalically of the fundus of the stomach although it has its usual attachments. There is a lesser omentum, the edge of which is free (anteriorly of a high foramen of Winslow) and contains the usual structures. A lesser omental bursa is thus formed, the floor of which is the transverse mesocolon. The first part of the duodenum runs posteriorly, inferiorly and to the right. In the crook of the duodenum which soon becomes retroperitoneal in the upper portion of the abdomen lies the pancreas. Superiorly to the duodenum through the lower edge of the pancreas runs the superior mesenteric artery. Higher courses the celiac axis whose hepatic branch enters the lesser omentum. The orifices of these vessels are about at their usual levels in the aorta relative to the vertebral column. About the superior mesenteric artery, which is longer than usual, comCONGENITAL DEFECTS IN DIAPHRAGM 717
plete rotation of the intestine has occurred. The mesentery attaches along a very narrow zone to the pancreas and not at all in its usual way along a line that leads down and to the right toward the iliac fossa. The ileocecal valve lies just above the costal margin. À large vermiform appendix curves away from the tapering cecum. Superior and inferior ileocecal folds and a mesenteriolum appendicis are defined. A redundant transverse mesocolon forms the floor of the lesser omental sac as described. The descending colon becomes retroperitoneal over the left adrenal and then pursues its usual course toward the pelvis where it becomes continuous with the sigmoid. All of the pelvic viscera are of the usual size and shape and have typical relations.
The left adrenal reaches to the level of the neck of the tenth rib and lies directly superior to the kidney rather than to the right of the upper pole as usual. A serous membrane invests the anterior surface of the organ, continuous with the mesocolon which reflects upon the body wall here and with the pleura and peritoneum of the posterior wall. On the right side the adrenal extends almost to the same level as the left and bears the same relation to the kidney but the diaphragm separates it from the pleural cavity. A bar of renal tissue 1 cm. wide joins the lower poles of the left and right kidneys, creating a “‘horseshoe” kidney. The connecting bar is in reality an accessory lobe of renal tissue comprising a single malpighian pyramid with its appurtenant cortex drained by a projection from the left lower calyx.
A deep slit-like channel in the hepatic substance affords entrance for the round ligament. To the left of this there is on the anterior surface a deep cleft demarcating an auricle-like portion of the left lobe which, being free of diaphragm, has no “bare area.” On the most medial and superior aspect of this, reflections of peritoneum from the anterior and posterior surfaces combine to form a tiny left triangular ligament which attaches to the narrow semilunar band of muscle representing the left diaphragm. There is a typical coronary ligament on the right. No notable gross changes have occurred in the liver. The major dimensions of the organ are 7, 5 and 3 cm.
The spleen is chiefly remarkable for its position relative to the stomach, but it has the usual attachment in the greater omentum which encloses it. Its diameters are increased to 5, 2.5 and 1 cm. 718 LIEBOW AND MILLER
No difficulty is encountered in completely restoring the ectopic viscera to the abdominal cavity. Again ready means for closing the defect in the diaphragm are lacking.
Case 4. False Hernia, High Position of Left Kidney *
Clinical History: The infant was the second child of a 21 year old mother. The first child was born about 214 years previously and apparently developed normally. There was nothing of note in the history of the last pregnancy. The placenta was intact. Resuscitation of the newborn had to be performed. The child died about 6 hours after birth.
Anatomical Diagnoses: Congenital defect in the diaphragm (left); thoracic ectopia of the left kidney, stomach, spleen and portions of the large and small intestines; dextrodisplacement of the mediastinum; pulmonary atelectasis (bilateral) ; and cryptorchidism (right).
At autopsy the body is that of a well developed male infant 48 cm. long. Externally there is nothing of note except for the absence of the right testis from the scrotum.
An incision reveals the mediastinum to be displaced far to the right by most of the abdominal viscera which have entered the left hemithorax through an opening in the posterior portion of the diaphragm. The left lung is a small bilobed mass of dense, airless, dark blue tissue compressed against the mediastinum, but the right lung, although likewise almost non-crepitant, contains several small bullae. What may be considered a mesoesophagus connects this thin patent tube to the aorta. The esophagus passes into the abdomen through a hiatus in the crus but then recurves over the mesial margin of the defect in the diaphragm to reenter the thorax. No cardiac or vascular anomalies are discovered and there are no unusual communications between the respiratory and digestive systems. Both phrenic nerves are present.
The diaphragm is represented by a complete dome on the right but on the left only the anterior and medial portions remain. Here the concavity of its crescent faces posteriorly. It is everywhere covered by serosa. In the region of the left anterior axillary line its muscle fibers disappear and there is no elevation of the serous lining membrane. Medially the diaphragm acts as a narrow shelf to support the left half of the pericardial sac, and posteriorly it
- Grace Hospital. New Haven Hospital autopsy No. 4747. This case was referred
by Dr. C. J. Bartlett. CONGENITAL DEFECTS IN DIAPHRAGM 719
arches as a tiny crus over the left face of the esophagus to insert anteriorly of the left renal vein. The crus on the right side is well developed. Anteroposteriorly this defect in the diaphragm measures 2.5 cm. and transversely 3 cm.
One of the most remarkable anatomical features is the high position of the left kidney and adrenal. The adrenal extends in the midline of the back to the upper margin of the eighth rib, and the kidney to the eighth interspace. These structures can be moved only very slightly in their retroperitoneal attachments. They serve as the attachments for many of the serous membranes of the abdominal viscera (Fig. 5).
As the esophagus enters the abdominal cavity it bends cephalically and to the left and expands into the stomach. The greater curvature is now seen to be directed upward. A greater omentum attaching the spleen in a typical manner arises from the middle of the greater curvature and attaches to the anterior surface of the kidney and posterior wall of the body (Fig. 5). The attachment at first courses upward and to the left, but then swings caudally and then downward and to the right to terminate at the second portion of the duodenum. In this manner the lesser peritoneal cavity is isolated and communicates with the greater only at the foramen of Winslow, which in this case is farther to the left than usual. The lesser omentum lies approximately in its usual plane, contains the bile ducts, hepatic artery and portal vein and attaches in a typical manner to the liver. Within the crook of the duodenum lies most of the pancreas, but a small portion extends to the right of the second portion retroperitoneally (Fig. 5). When the small intestine emerges from its retroperitoneal duodenal segment its mesentery also attaches to the anterior surface of the kidney near the lower pole and proceeds cephalically and to the left. The cecum has a mesentery in common with that of the small intestine. It inserts at first along a bare area in common with that of the greater omentum. The ascending colon then proceeds in a cephalic direction and becomes retroperitoneal for a distance no greater than 1.5 cm. Then begins what corresponds to the transverse colon which is joined to the stomach by the portion of greater omentum representing the gastrocolic ligament. It is attached by the transverse mesocolon which inserts by the side of the greater omentum. The linear attachment of the mesentery of the large 720 LIEBOW AND MILLER
intestine then curves cephalically and to the left and then forms a flexure in a caudal direction. As the region of the upper pole of the kidney is approached the large intestine becomes retroperitoneal for a distance of 4 cm., but within the abdomen again a long mesentery is acquired. The intestine does not become retroperitoneal again until deep in the pelvis where the rectum pursues its usual course.
The liver has the greatest dimension of 9 by 6.5 by 4.5 cm. On the right side it attaches to the dome of the diaphragm by a small triangular and large coronary ligament. On the left the triangular ligament is long and binds the liver to the diaphragm along a line approximately 3 mm. anterior to the crescentic posterior margin of that structure. The attachment of the lesser omentum is typical.
The right testis has not descended and is joined by a mesorchis to the posterior wall of the abdomen and is connected by means of a spermatic cord with the structures at the base of the bladder. Another anomaly is that of hypospadias since the orifice of the urethra is on the ventral aspect of the penis, 8 mm. from the distal end.
In this case there is an atypical attachment and only partial rotation of the mesentery since the first loop of jejunum is caudal in position. Since the kidney has a high position and serves as the attachment for most of the mesenteries, it is not possible to restore the abdominal organs completely below the level of the attachment of the diaphragm anteriorly although most of the left hemithorax can be cleared.
Case 5. False Hernia, High Position of Left Kidney and Adrenal *
Clinical History: This white male infant was delivered spontaneously at term but lived for only 2 hours. The family history, course of pregnancy and labor, and past history of the mother are not available. The infant was brought to the New Haven Hospital for autopsy.
Anatomical Diagnoses: Congenital defect in the diaphragm (left); intrathoracic ectopia of the spleen, stomach, pancreas, intestines, and left adrenal and kidney; dextrodisplacement of the mediastinum; pulmonary atelectasis involving particularly the left lung; and cryptorchidism (bilateral).
Externally the body is well developed and 49 cm. long. When the viscera are examined the greater part of the stomach, small
+ New Haven Hospital, autopsy No. 3345. CONGENITAL DEFECTS IN DIAPHRAGM 721
and large intestines are found in the left thorax. The diaphragm, although attached to the lateral wall of the body, has not developed posteriorly on the left side, allowing the ectopia of the viscera. The mediastinum, which contains a large thymus in its superior portion, is markedly shifted toward the right. Two small unexpanded buds represent the left lung, but aeration has partially progressed in the right lung.
The stomach is so situated that its fundus is thrown to the right, as though it had become rotated 180 degrees with the cardia as a pivot; consequently the pyloric end faces toward the left. Above the diaphragm and just to the right of the middle lies the spleen, which has its usual attachments. The liver occupies the greater part of the abdominal cavity. The left adrenal and kidney project high above the expected line of insertion of the diaphragm. The lower pole of the left kidney lies at the level of the upper pole of the right which has its usual position relative to the vertebral column. Neither testis has descended.
Case 6. False Hernia, High Position of Left Kidney and Adrenal *
Clinical History: Baby R., a male negro infant., was delivered at term spontaneously. The mother was a 30 year old negress whose Wassermann reaction was negative. There had been 9 previous pregnancies, 4 of them ending in abortion. One of the remaining 5 infants born alive died following an operation of unknown character.
The infant was 48 cm. long and weighed 2595 gm. The greatest circumference of the head was 32 cm. The infant cried spontaneously and feebly following delivery and the respirations were of a shallow gasping quality. The apex beat of the heart was made out to the right of the midline. The heart rate was slow. With stimulation the respirations and heart action improved. Three and a half hours later the infant’s respirations were noted to be shallow and gasping, but improved with stimulation. Two more periods of respiratory failure followed at the 8th and oth hours of life, from the last of which the infant could not be revived. The heart stopped 5 minutes after respirations ceased. The clinical impression was atelectasis, dextrocardia and a possible congenital cardiac anomaly.
Anatomical Diagnoses: Congenital defect in the diaphragm (left): intrathoracic ectopia of the spleen, stomach, intestines and left kidney and adrenal; dextrodisplacement of the mediastinum; pulmonary atelectasis involving particularly the left lung; and cryptorchidism (right).
At postmortem the body appears well developed, weighs 2575 gm. and is 49 cm. long. The liver extends far to the left and seems
+ New Haven Hospital, autopsy No. 523. 722 LIEBOW AND MILLER
at first glance to fill the entire abdomen. A defect is present in the left dome of the diaphragm posteriorly, just to the left of the vertebral column. As in Cases 1, 2 and 3, the fundus of the stomach is directed cephalically and the esophageal and pyloric ends are in apposition. The general relations of the ectopic viscera are indicated in Figures 7 and 8. Noteworthy is the upward displacement of the left adrenal and kidney. One-third of the latter lies above the diaphragm behind the posterior wall of the body. The left lung is represented merely as a small spongy mass, but the right is partially expanded. In the left pelvic region is found a small undescended testicle.
Case 7. False Hernia *
Clinical History: Baby C., a male negro infant weïighing 3400 gm., was delivered at term. The mother was a 23 year old negress whose Kahn reaction was negative. There had been 1 previous pregnancy with a living infant.
The delivery of Baby C. was precipitate. Following delivery it was noted that the breath sounds were distant and that some râles were present in both lung fields. The apex beat of the heart was noted to be to the right of the midline. After taking water well during the first 24 hours, it went to the breast at 26 hours. Immediately following this initial breast feeding it cried incessantly. The crying ceased suddenly and the baby stopped breathing. Physical examination at this time showed a cyanotic and apneic infant with a heart rate of 60 beats per minute. Artificial respiration was unsuccessful. The clinical diagnosis was not stated.
Anatomical Diagnoses: Congenital defect in the diaphragm; intrathoracic ectopia of the spleen, stomach and intestines; dextrodisplacement of the mediastinum; pulmonary atelectasis involving particularly the left lung; and cyst of upper jaw (bilateral).
There is nothing remarkable in the external appearance of the child. A small cyst is found on each side of the upper jaw. Both testes are in the scrotum. Most of the peritoneal cavity is occupied by the liver and distal third of the large intestine. The other viscera have escaped into the pleural cavity through an oval opening 1 cm. in diameter in the portion of the diaphragm whose crura are intact. They displace the mediastinum to the right and so rotate the heart that the apex points anteriorly; also the left lung is compressed to a size half of that of the left. Both lungs are crepitant. The omentum is a thin membrane which covers the intestines despite their thoracic location. Just above the defect in
+ New Haven Hospital, autopsy No. 2131. CONGENITAL DEFECTS IN DIAPHRAGM 723
the diaphragm in relation to the duodenum lies the pancreas. The spleen is in the midportion of the thorax, one side resting against the vertebral column. None of the viscera present gross anomalies.
Case 8. Herniation of Stomach Through Esophageal Hiatus *
Clinical History: Baby M., a white female, was delivered in another hospital 2 weeks after the expected date. The mother felt less well and noted that the fetus was less active than in her previous pregnancies, 2 of which had resulted in living and well infants and 2 of which ended in miscarriages. The mother’s age was not stated. The infant breathed well and had a good color a few minutes after delivery. It weighed 3100 gm. It was noted after birth that the arms were externally rotated, flexed at the elbows, wrists and carpal-metacarpal joints. Full extension of the arms could be made only after persistent effort. The feet could be extended in a plantar direction to no further than a right angle with the legs. The fontanelle was almost closed and the largest circumference of the head was 32.5 cm. The length of the infant was 49 cm. The chest was prominent anteriorly.
During the first few days of life the baby occasionally became cyanotic and coughed with its feedings. Breathing at other times was irregular and occasionallv there were spells of apnea. Small amounts of blood and food were vomited. Sucking was feeble. During the 1st month the cyanotic spells lessened but the cough with feedings continued. A left facial weakness, aystagmus and intermittent internal squint appeared during the ist month.
At the age of 11 weeks it was noted that with coughing a curious gurgling sound could be heard in the region of the stomach. The history suggested a diaphragmatic hernia, but the physical signs could not be made out clinically. Just before admission to this hospital the child vomited a few cc. of brown blood and passed a large tarry stool. Roentgen study after admission disclosed a diaphragmatic hernia on the left side. During the next month she grew steadily weaker. Hemorrhages appeared in the subcutaneous tissue of the legs, hands, feet and abdomen. The night before death a large amount of blood was vomited. The clinical impression was diaphragmatic hernia (X-ray) and congenital cerebral defect.
Anatomical Diagnoses: (Primary): Hyperplasia of brain, involving myelin sheaths and cortex; emaciation. (Subsidiary): Diaphragmatic hernia; gastric ulcer; and suppurative dermatitis.
At autopsy the child is 52 cm. long and weighs 2200 gm. It seems less than the stated age of 4 months. The thoracic viscera do not appear altered. The heart weighs 10 gm. and is of the usual structure.
An opening in the diaphragm at the esophageal foramen 2 cm. across permits the protrusion of the upper portion of the stomach into the thorax. The cardia is 4 cm. above the level of the dia + New Haven Hospital, autopsy No. 1838. 724 LIEBOW AND MILLER
phragm. Its mucosa in large part has sloughed and the tissue which remains is dark green and obviously necrotic. Remarkable changes are observed in the central nervous system. There is a relatively sparse amount of gray matter. Lateral and third ventricles appear dilated but the aqueduct is free of obstruction. Histologically, however, the cortex shows a normal mature cytoarchitecture. The internal capsule is surprisingly narrow and the pyramidal tracts are small. No traces of the frontopontine or of the medial portions of the corticospinal tract are discovered. In the pons transverse portions of the corticopontine and corticospinal tracts appear to be reduced in size. The entire ventral half of the spinal cord is smaller than the dorsal half.
Case 9. Eventration of Diaphragm *
Clinical History: Baby G., a white male, was delivered precipitously at term after an uneventful pregnancy. The mother had had 12 previous pregnancies, 11 of which were known to have resulted in living children, 1 of whom had a deformity of the arms and the legs. Her Wassermann reaction was negative.
The infant was admitted to the Pediatric Service when 2 hours old because of multiple congenital anomalies consisting of microphthalmus, polydactylism, syndactylism, talipes equinovalgus and cryptorchidism. On admission respirations were normal but there was some cyanosis of the extremities. Impaired resonance was found over the right side of the chest and many coarse râles were heard throughout both lung fields. The apex impulse of the heart was observed to be on the right side of the sternum. The edge of the liver was palpable one fingerbreadth below the costal margin. Roentgen study the following day showed a fractured left clavicle, atelectasis at the right apex and at the left base, the stomach lying apparently above the diaphragm on the left. and the heart transposed to the right. The infant survived for 36 days and its course was marked by a refusal to eat well, progressive loss of weight. occasional vomiting and elevation of temperature, and occasional cyanotic spells, during one of which it died. A loss of weight from 3100 gm. to 2500 gm. occurred.
Clinical Diagnoses: Microphthalmus: tongue tie; supernumerary digits (bilateral); undescended testicles; phimosis; talipes calcaneovalgocavus: dextrocardia; and eventration of diaphragm.
Anatomical Diagnoses: Eventration of diaphragm; patent ductus arteriosus and foramen ovale; interventricular septal defect; hypertrophy and dilatation of right ventricle; double ureter (right); cryptorchidism; microphthalmus: and polydactylism.
Gross Examination At autopsy the body is found to weigh only 2500 gm. The anomalies of the extremities described in the first physical exam+ New Haven Hospital, autopsy No. 1359. CONGENITAL DEFECTS IN DIAPHRAGM 725
ination are again observed. When the anterior wall of the thorax is elevated the heart is found displaced entirely to the right of the midline. The posterior half of the left diaphragm protrudes into the thorax for 6 cm. above the usual level of the dome. There is no description of the structure of the diaphragm. The stomach and the spleen which are included in the pocket appear to be normal in structure. The right ventricle of the heart is hypertrophied and composes the bulk of the organ. There is an interventricular septal defect 7 mm. in diameter and the foramen ovale is patent.
Embryology and Pathogenesis
Six of the 9 cases in this series are massive false hernias, 1 is a massive true hernia, 1 is an eventration of the diaphragm and 1 a hernia through the esophageal hiatus. An understanding of the location of the commonly encountered defects and of the necessary conditions in the causation and the time of occurrence of the hernias can best be gained from a review of the embryology. This has been studied chiefly by Uskow, Bochdalek, Mall, Prentiss, Keith, Lewis, Corning and Broman.
The first essential condition is the presence of a hernial orifice. The original single body cavity begins to be subdivided when the embryo is about 2 mm. long. As the heart bends ventrad, the coelom is pushed before it so that a transverse shelf, the septum transversum, is formed from the ventral wall of the body separating the developing heart from the primitive peritoneum. The ventral mesocardium disappears but the liver expands within the ventral mesogastrium as it impinges upon the septum transversum. As the cardinal veins sweep from the heart to the lateral wall of the body they produce projections into the coelom covered by mesothelium. Shelf-like expansions grow out from these in a Y shaped manner. The cephalic of these represents the pleuropericardial fold and the caudal the pleuroperitoneal fold. The former grows out to isolate the heart from the pleura. The latter in its growth narrows a channel, the pleuroperitoneal canal which connects the primitive pleural region of the coelom into which the lung buds are growing with the abdominal region. Finally during the 7th to 8th weeks a membrane is completed, the pleuro726 LIEBOW AND MILLER
peritoneal membrane which separates the peritoneum from the pleura on each side. Derivatives of the dorsal mesentery and from the right lateral walls of the body help to complete the Anlagen of the mature diaphragm. The location of the pleuroperitoneal canal corresponds with that of the hernial opening in 7 of the 9 cases presented here and in many described by others.
The opening is situated dorsally, in the region of the triangle of Bochdalek, but this triangle has merely gross descriptive rather than embryological significance. The identity of location and relations of the pleuroperitoneal opening with that of the hernial orifice suggests (Gruber) that persistence of this canal is responsible for “false hernias.” The variation in size is accounted for by the stage at which herniation occurs. The sizes of the hernial openings are indicated in Table I.
The mobility of the gastro-intestinal tract and therefore the relations of its membranes must be understood before the second of the essential conditions surrounding the origin of the diaphragmatic hernias (that of the presence of structures capable of herniation) can be comprehended. According to Jahn the intestines begin rotation before the time when the bowel is physiologically herniated into the umbilical region (7th week). The return to the peritoneal cavity following spacial readjustments is usually from 2 to 3 weeks after the pleuroperitoneal foramen, in the usual course of events, is already closed (Hedblom, Hofer) and retroperitonealization is not complete until the 5sth month.
It is therefore obvious that either the intestines return from the umbilical pocket prematurely or that the patency of the pleuroperitoneal foramen is prolonged in most cases of congenital diaphragmatic hernia.
Only a few exact studies of the relations and attachments of the membranes in these cases (such as Grosser’s or Winkler’s) are available. In all 4 of those personally observed (Table I) rotation of the intestines has occurred (see Fig. 2), and partial and atypical fusion with the posterior body wall of the ascending and descending colons as well as fusion of the greater omentum with the transverse mesocolon are in evidence. This indicates the probability that the intestines were already displaced at 4172 months, when the fusions usually occur. The changes from the C 7271
Anatomical Features of Interest in Four Cases of Diaphragmatic Hernia Personally Observed
Size of hernial orifice
Crura of diaphragm Phrenic nerves
Position of kidneys and adrenals
Attachment of mesenteries
Possibility of reduction
s cm. transversely x 4 cm. anteroposteriorly
Pass anteriorly of root of lung on each side
Upper margin of left adrenal at angle between r2th rib and spinal column
High and to the left of usual position
Much of liver projects into thorax and has a peculiar shape. Reduction would be difficult also because of distention of stomach and large intestine
4X 3 cm.
Present bilaterally As in Case 1
As in Case 1
As in Case 1
Stomach distended with gas and large intestine distended with meconium would render reduction very difficult despite theoretical possibility. No adhesions to pleura
3 X 2.5 cm.
Present bilaterally As in Case 1
Upper margin of left adrenal covered by serosa and projects up to about 1oth interspace
As in Case 1
3 X 2.5 Cm.
Present bilaterally As in Case 1
Upper margin of left adrenal at upper level of 8th rib
As in Case 1
Not possible because of high position of left kidney to which membranes are attached 728 LIEBOW AND MILLER
usual are in each case the failure of the mesentery of the small intestine to become attached along the oblique line low in the abdomen which passes from the left superiorly to the right inferiorly across the vertebral column. Also the partial fusions of the ascending and descending colons with the body wall are more cephalic than usual and are displaced far to the left. It is clear that a complete mesenterium commune is not in evidence as in the cases of Jahn and Liepmann, among others, and that this therefore is not a necessary condition for the occurrence of diaphragmatic hernia. It is remarkable that despite these displaced attachments fusion with the pleura has not occurred at any point. Thus, an analysis of the conditions in Cases 1, 2 and 3 reveals a theoretical possibility of restoring all of the ectopic viscera to the abdominal cavity (Table I). In Case 4 the high position of the kidney to which the membranes were attached renders this impossible.
From these embryological data it is apparent that the herniation probably occurs at some time between the 8th to r8th weeks of fetal existence. It is possible that the herniation may be before the 8th week if the duration of the “physiological umbilical herniation” is reduced by some unknown mechanism. As further evidence that the herniation occurs long before birth is the underdeveloped condition of the homolateral lung, the fact that in many instances the liver has been molded, embeds the round ligament within itself in an atypical fashion, and that occasionally the kidney, a fixed retroperitoneal structure, has also suffered upward misplacement.
If it is assumed that closure of the pleuroperitoneal foramen is delayed, what factors may be responsible? There is no hint that trauma to the mother played a role in the 4 cases personally observed, and only rarely as in cases cited by von Gôssnitz and by Bischoff is the suggestion seriously considered or supported by evidence in the anamnesis. Some have regarded persistent patency of the pleuroperitoneal foramen as a consequence of some other congenital abnormality. Many (Gruber, von Gôüssnitz, Bischoff, Liepmann, Jahn, Grosser) have remarked on the apparently large size of the liver. To this has been ascribed the defect in the diaphragm. This idea seems ïillogical, however, since one would expect a large left lobe to tend more quickly to appose by means CONGENITAL DEFECTS IN DIAPHRAGM 729
of the coronary ligament the edges of the pleuroperitoneal opening. It is true that some livers by actual measurement are larger than usual, as in Case 2 of the present series. But Cartellieri, who examined the liver volumes in the large and well preserved collection at Innsbruck, found them in many instances to be diminished. In the presence of the low right diaphragm observed in these cases it is easy to understand how the liver may appear to be larger, even on occasion to fill the abdominal cavity when the other viscera have entered the left thorax, and yet actually be smaller than usual. In examining the livers in Cases 1, 2 and 3, as well as the illustrations from the published material of Cartellieri, Liepmann and others, the peculiarity of the course of the round ligament through the liver is striking. Usually there is a deep notch between the lobes through which the ligament passes and often a process of the right lobe extends far to the left beneath the ligament. This may unite with the left lobe. The possibility is thus suggested of some change in the growth axis of the liver, perhaps of etiological significance in producing the diaphragmatic defect. More likely, however, it may represent an adjustment to altered tensions as a result of the herniations. Kleine maintains that a high situs of the left kidney may be the factor responsible for the defect in the diaphragm. He points out that in his case the kidney was the one fixed structure among the many that were ectopic and refers to the scantiness of accurate published data in these cases. Hook and Kallius published the report of a case in which large cystic kidneys were associated with the defect. In the case of Liepmann the kidney extended to the fifth rib and in Cases 4, 5 and 6 of the present series the kidney was also high on the homolateral side. In all others of those personally observed, however, and in some described by others, both kidneys were found to occupy the usual positions. For this reason no universally pathogenetic significance can be ascribed to the anomaly. The phrenic nerves in the vast majority of cases when examined were found to be normal in origin and course but the possibility of defects in vascularization (Latarjet and Jarricot) has vet to receive detailed study. Aplasia of the lung, as in the almost unique case of Schmit, may result in a high position of the diaphragm. As shown in Table III, the most commonly associated congenital abnormality was cryptorchidism, particularly where the left kidC 730]
Cases of Survival with Massive Congenital Diaphragmatic Hernias
Occasional ‘“‘stitch in side.” Attacks of unconsciousness
Long history of recurrent abdominal pain. Acute attack suggesting appendicitis
Had borne 7 children. Pains in left side for several years
Paticnt suddenly seized with sharp abdominal pain
Patient working. Seized with vertigo and abdominal pain
No gastro-intestinal symptoms
Patient struck by derrick with which he was working
Operation. Reduction of large hernia. Suture of diaphragm. Cure
Immediately after overindulging in food patient seized with severe abdominal pain and vomiting
Patient suffered fracture of humerus. Massive hernia discovered at examination. Patient recovered
Patient died of diverticulitis of large intestine. Peritonitis
Died of pneumonia of right side (left lung compressed by herniated viscera)
Bowditch, H. I. A Treatise on Diaphragmatic Hernia. Thos. Jewett & Co. Buffalo, N. Y. 1853.
Borden, D. L. Ann. Surg., 1922, 75, 337-343.
Abel, K. Berl. klin. Wchnschr., 1894, 31, 84-87.
Unger, A. S., and Speciser, M. D. Am. J. Roentgenol., 1926, 15, 135-143. Unger, A. S., and Speiser, M. D. Am". J. Roentgenol., 1926, 15, 135-143. Unger, A. S. and Speiser, M. D. Am. J, Roentgenol. 1926, 15, 135-143.
Monks, E. H. Brit. M. J., 1914, x, 708-709.
Vogel, K. M. Am. J. M. Sc. 1913, 145, 206-219.
Thoma, R. Virchows Arch. f. path. Anat., 1882, 88, 515-558. CONGENITAL DEFECTS IN DIAPHRAGM 731
ney or adrenal occupied a high position. It is obvious that the association of the malformations just discussed with defects in the diaphragm is vague from the etiological point of view, is certainly inconstant, and furthermore cannot account for all cases.
The best evidence indicates that persistence of patency of the opening or failure of muscularization of the diaphragm precedes the other associated displacements and malformations. It must be admitted that a full understanding of the cause of the malformation will not be possible until the mechanical, chemical and electromagnetic determinants of typical embryogenesis are more clearly comprehended. We can at present merely define within limits the probable temporal sequence of the phenomena and thus avoid errors in establishing theories of causation.
Summary of Significant Anatomical Features
In Table I are summarized certain anatomical features of interest. In all 4 cases the mediastinum had shifted markedly to the right, the left lung had not expanded, and the intact right dome had sagged so that the liver seemed to fill most of the abdomen. Nevertheless, long life is not incompatible with the presence of large congenital diaphragmatic hernias as indicated by the cases collected in Table II. Complete reduction could actually be accomplished in the cadaver in all but the 4th of the cases dissected by the writers where the membranes were attached to the anterior surface of a kidney which projected high into the left pleural space. In Cases 5 and 6 similar conditions probably obtained although only the protocol and drawings were available for study. In all of the others the mesenteries inserted below the usual line of attachment of the diaphragm, there were no adhesions to the thorax, and the only hindrance to reduction was the presence of gas in the stomach and meconium in the intestine. So small were the vestiges of diaphragm in the 4 cases that complete closure of the ring was not possible without transplantation of muscle or fascia.
Some of the facts of clinical interest concerning the 9 cases in this study have been collected in Table III to facilitate their discussion. C732]
TA8LE III Clinical Data of Interest
Number | Ahortions | Full Mother's Character T: Tim Ti di RoentCase |Mothers| ofpre- | and mis- | term Kahn or of 2P° of ° Sex of Cardinal a im Clinical Reno Other congenital number age |vious preg-| carriages | infants | Wassermann present delivery delivery death symptoms | Dulse on | diagnones gram defects
nancies test pregnancy right
yrs. hrs. 1 32 : 1 o Negative Normal Spontaneous | Term M 1 Dyspnea NS. ? tachesl None None atresia 2 40 s o s Negative Normal Spontangous, Term Dyspnea Yes Atelectasis Hernla None precipitate PM. 3 . . . . Negative Normal Spontaneous | Prema- Cyanosis, Yes Congenital None Horseshoe kidneys, ture dyspnea diaphrag- cleft palate, congenimatic her- tal anomaly of heart nia (left superior vena cava) 6 Cyanosis, NS. NS. None Cryptorchidism, hypodyspnen spadias .S. NS. NS. Cryptorchidism
9 Fecble cry, Yes Atelectasis, Hernia Cryptorchidism periodic dextrocardyspnen dia 7 23 1 o I Negative Normal Spontaneous, Term 27 Sudden ap- Yes NS. None None precipitate nea 8 NS. 4 2 2 NS. Mother less | Low forceps | Term Occasional No ? diaphrag- | Hernia | Hydrocephalus, abnorwell, fetus cyanosis, matic her- malities of cutancous less active go h with nia blood vessels
eeding 9 38 12 1 Il Negative Normal Spontaneous, | Term Occasional Yes Atelectasis | Hernia | Polydactylism, syndacprecipitate days vomiting, tylism, clubbed feet, refusal to cryptorchidism, mieat crophthalmus, conenital anomaly of eart (patent interventricular septal defect)
+ Fa fn
4 at 1 o 1 NS. Normal Spontaneous | Term
NS. NS. NS. NS. NS. NS. NS. Term Negative Normal Spontancous | Term
À 2% À + oo o ro
S S ë + Eu
N.S. = not stated. CONGENITAL DEFECTS IN DIAPHRAGM 733
Of the 6 mothers whose ages were stated, 4 (Cases 1, 2, 6 and 9) were in the latter half of the child-bearing period, being 30 years or more of age at the time their offspring with congenital diaphragmatic hernias were born. Seven mothers were multiparas (Cases 1, 2,4,6,7,8 ando). It is impossible to say from this small group of 9 cases whether the occurrence of these anomalies was associated in any way with the age or parity of the mothers. In order to obtain further information concerning the incidence of congenital diaphragmatic hernias according to the age and the number of pregnancies of the mothers, 25 additional cases were picked at random from the literature. Of the 34 mothers only 12 had their ages recorded. Five of these were under, and 7 were over 30 years of age. In the general population the ratio of mothers under 30 to those over 30 years in the child-bearing period is about 10 to 3. Apparently the incidence of these anomalies is suggestively higher among mothers of 30 or more years of age than among those under 30. The ratio of 6 primiparas to 17 multiparas who bore infants with congenital diaphragmatic hernias is similar to the ratio of primiparas and multiparas in the general population. The parity of the mother is probably of no significance so far as the incidence of infants with these congenital defects is concerned.
From Table III it can be seen that 7 mothers (Cases 1, 2, 4, 6, 7, 8 and 9) had had a total of 33 previous pregnancies; 8 of these ended in abortions, giving a ratio of r abortion to every 3 infants born alive, which is similar to the abortion ratio in the general population.
The pregnancies and labor of the 9 mothers were not remarkable except in Case 8. The mother of this infant felt less well during her pregnancy and noted that the fetus was less active than in her previous pregnancies.
Discussion of the symptoms of these hernias and their relation to the pathology needs no enlargement after the excellent description by Greenwald and Steiner. It is to be noted that in only r (Case 3) of the 9 infants were the symptoms and physical findings correctly diagnosed clinically without the aid of roentgenography. In 4 other cases the intravitam diagnosis was made by roentgen study (Cases 2, 6, 8 and 9) and in the remaining 3 (Cases 1, 5 and 7) the anomalies were first discovered at the 734 LIEBOW AND MILLER
postmortem examination. The incidence of intravitam diagnosis in this group of 9 cases is similar to the experience of others. Greenwald and Steiner in reviewing 82 cases in children under 10 years of age found that the diagnosis was made clinically in only 6, that in 21 others it was made by roentgen examination, and that in 43 the defect was first detected at the autopsy table. Truesdale’s more inclusive survey of 303 cases in children disclosed that in 165 of them the diagnosis of a hernia was made only at autopsy. Some of the difficulty in diagnosing these cases clinically is probably due to the high mortality (about 50 per cent) during the first few hours of life, permitting insufficient time for clinical observation. Seven of the 9 infants in the present study died within 27 hours of birth (Cases 1, 2, 3, 4, 5, 6 and 7) and 4 of them died within 4 hours (Cases 1, 2, 3 and 5). Forty-three of the 82 cases reported by Greenwald and Steiner, or over half, were either stillborn or dead within 24 hours of birth. This lack of sufficient time for clinical observation is not, however, the whole difficulty in diagnosis. Part of the latter is due to the failure of the clinician to consider these anomalies in the differential diagnosis when confronted by an infant with respiratory difficulty and with the cardiac apex impulse on the right side of the chest. In 5 infants (Cases 2, 3, 6, 7 and 0) the apex beat of the heart was located to the right of the midline. Although the clinician does consider congenital diaphragmatic hernia in differentiating these anomalies from other cardiorespiratory and gastro-intestinal disorders, it is sometimes impossible to correlate the physical findings with the symptomatology. Physical examination may be entirely negative in the presence of extensive hernias. Such was the case in the 8th infant of this series. The history of occasional cyanosis, cough with feeding, vomiting of blood and food, and a curious gurgling noise located in the region of the stomach when the child coughed made the clinician suspect a diaphragmatic hernia, but the physical findings in the chest were entirely negative. The diagnosis was subsequently made by roentgen study.
The discussion in the literature of the clinical aspects of these anomalies has been largely an academic one. Up to 1935 only 17 infants under a year of age had been operated on. 9 of them successfully. The fact that the youngest of the 9 was less than 48 hours old at the time of operation would indicate that the age of CONGENITAL DEFECTS IN DIAPHRAGM 735
the patient was not a contraindication to surgical procedures being carried out. In retrospect it would appear that 2 of the infants (Cases 6 and 7) might have benefited by operation had the significance of the ‘“‘dextrocardia” been appreciated earlier, for the defects in the diaphragm of both infants were only partial and the clinical course of each infant was not so stormy but that an operation might have been at least considered. Probably only by routine clinical examination immediately after birth and an increase in the incidence of correct clinical interpretation of ‘“‘dextrocardia” will such infants in the future have the benefit of at least a surgical consultation. No attempt was made to correct the diaphragmatic defects in Cases 8 and 9, where the infants survived for 4 months and 36 days respectively, because of the extensive congenital defects present in each infant in addition to the diaphragmatic anomaly.
The high incidence of anomalies other than those present in the diaphragm of these infants has been noted in many previous reports in the literature. Six infants (Cases 3, 4, 5, 6, 8 and 9) had additional defects. Four had cryptorchidism which was noted at postmortem examination and four had multiple defects as noted in Table III.
A study of available data indicates that in most instances a persistence in patency of the pleuroperitoneal foramen beyond the 7th to 8th week of intrauterine life is probably responsible for the defect known as congenital diaphragmatic hernia. The one associated anatomical change found in all 4 specimens we dissected was in the atypical rotation and attachment of the mesenteries. This suggests that the intestines were already misplaced at the middle of the 4th month, the usual time of rotation and fixation. It is concluded that the high position of the left kidney observed three times in the present series cannot invariably be the cause of the defect in the diaphragm. The abdominal viscera are attached in the thorax only where the kidney in a high position serves as the attachment of the mesenteries.
Some of the clinical aspects of these cases have been considered. The difficulty in diagnosis during life by clinical observation is stressed and the reasons discussed. 736 LIEBOW AND MILLER
Abel, Karl. Ein Fall von angeborenem, linksseitigem Zwerchfellsdefekt mit Hindurchtritt des Magens, des grossen Netzes, eines Theiles des Colon und des Duodenum in die Pleurahôhle. Berl. klin. Wchnschr., 1894, 31, 84-87, 114-117.
Bischoff. Drei Fälle von Hernia diaphragmatica congenita. Arch. f. Gyn&k., 1885, 25, 437-452.
Borden, Daniel L. Diaphragmatic hernia. Ann. Surg., 1922, 75, 337-313.
Bowditch, Henry I. A Treatise on Diaphragmatic Hernia. Thomas Jewett & Co., Buffalo, 1853.
Broman, Ivar. Ueber die Entwickelung des Zwerchfells beim Menschen. Anat. Anz., 1902, 21, 9-17.
Cailloud, H. Über einen rechtsseitigen Zwerchfellsdefekt beim Erwachsenen. Virchows Arch. f. path. Anat., 1914, 218, 64-84.
Cartellieri, P. Beitrag zur Lehre von den Zwerchfellsmissbildungen. Virchows Arch. f. path. Anat., 1927, 263, 599-631.
Cruickshank, J. N. Two cases of congenital diaphragmatic hernia. Glasgow M. J., 1926, 105, 81-84.
Fitzmaurice-Kelly, M. A case of double congenital diaphragmatic hernia. Brit. J. Surg., 1921, 9, 302-303.
Glaser, Felix. Über Eventratio diaphragmatica. Deutsches Arch. f. klin. Med., 1903, 78, 370-379.
von Gôssnitz, W. Sechs Fälle von linksseitigem Zwerchfelldefekt. Jenaische Zischr. f. Naturw., 1904, 38, 619-672.
von Gôssnitz, W. Ein weiterer Beitrag zur Morphologie des Zwerchfelles. Jenaische Ztschr. f. Naturw., 1904, 39, 233-244.
Greenhill, J. P. Pathology of pregnancy. The Practitioners Library of Medicine and Surgery. D. Appleton-Century Company, New York, 1934. 6, 260-261.
Greenwald, Harry M. and Steiner, Morris. Diaphragmatic hernia in infancy and childhood. Am. J. Dis. Child., 1929, 38, 360-392.
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DESCRIPTION OF PLATES
Fic. 1. Case 1. Congenital defect in the diaphragm (left). Thoracic ectopia of the abdominal viscera. Note the position of the liver and atypical course of the round ligament.
Fic. 2. Case 1. Complete rotation of the mesentery and intestine. An atypical high attachment of the mesentery is seen. AMERICAN JOURNAL OF PATHOLOGY.
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Fic. 3. Case 2. Roentgenogram (postmortem). The inverted stomach is seen in the left thorax. Displacement of the viscera to the right is
present. The thin barium fluid outlines also the bronchial tree.
Fic. 4. Case 2. True diaphragmatic hernia. A complete hood of membranous diaphragm precedes the ectopic abdominal viscera. Note the penetration of a portion of the greater omentum through a foramen in this membrane. AMERICAN JOURNAL OF PATHOLOGY. VoL. XVI PLATE 126
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Fic. 5. Case 4. High position of the left kidney. Note the attachments of the mesenteries to the anterior surface of the kidney and posterior body wall. From left to right the vertical lines of attachment represent (1) greater omentum; (2) greater omentum together with ascending and transverse mesocolon forking on the left to the mesentery of the small intestine, and on the right to the greater omentum; and (3) descending mesocolon. Note the projection of the head of the pancreas to the right of the duodenum.
Fic. 6. Case 6. Defect in the diaphragm. Note the posterior location of the defect in the region of the pleuroperitoneal foramen. PLATE 127
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W9 pere 1 o PLATE 128
Fics. ; and 8. Case 6. Note the high position of the left kidney and the non-descent of the testis. AMERICAN JOURNAL OF PATHOLOGY. VOL. XVL PLATE 128
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