Congenital Defect in the Diaphragm

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Abstract
Congenital defects in the diaphragm have been described with greatly increasing frequency in recent years probably as a result of more general use of roentgenologic procedures, which are the most reliable and usually the only certain method of establishing the diagnosis. Arey (1) states that the diaphragm is derived from four sources: (a) the septum transversum, which forms the ventral portion; (b) the pleuroperitoneal membrane, which gives rise to the lateral portion; (c) the dorsal mesentery, from which comes the median dorsal portion; (d) derivatives from the body wall. The striated muscle is derived from muscle masses lying originally opposite the fifth cervical segment, seen first in the 9-mm. embryo. These are thought to migrate caudally with the septum transversum. A simple and useful classification of congenital diaphragmatic hernias is that proposed by Philip Thorek (2): 1. Those in the posterolateral portions, along the embryonic pleuroperitoneal canal (foramen of Bochdalek). 2. Those in the retrosternal area (foramen of Morgagni). 3. Those through the esophageal hiatus. Classifications proposed by others are similar. They contain, also, references to hernias through miscellaneous congenital defects and include reports of cases in which a large portion—sometimes all—of one hemidiaphragm was absent (3–5). Kirklin (6) makes the statement that hernias through the esophageal hiatus constitute 98 per cent of all diaphragmatic hernias. They had been found in more than 1 per cent of all roentgen examinations of the stomach at the Mayo Clinic. Harrington (7) reports a series of 430 cases of diaphragmatic hernia in which operation was performed. Of these, 343 were of the esophageal hiatus type, 9 were through the pleuroperitoneal hiatus, 12 consisted of absence of the posterior fourth of the left diaphragm, 8 were through the foramen of Morgagni, and the other 58 were traumatic. All but one of the latter group involved the left diaphragm. A persistent dorsal opening, such as occurred in the case to be reported here, is explained by imperfect development of the pleuroperitoneal membrane. It differs from the type caused by a local muscular deficiency in the absence of a sac. Harrington (8) agrees in essence with Arey's embryological discussion. He suggests that the greater frequency of left-sided defects is due to the fact that the right diaphragm is protected by the liver, and its early development is thus facilitated. The descent of the stomach seems important in the development of esophageal hiatus hernias but is probably not relevant in other diaphragmatic defects. Diagnosis and Treatment Dyspnea, cyanosis, and general physical distress, occurring together in a newborn infant, sometimes accompanied by vomiting, are suggestive of diaphragmatic defects, with the presence of abdominal viscera in the thorax. Physical examination is further confirmatory, and fluoroscopy and roentgenograms are diagnostic.
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