How to interpret giant muscular hypertrophy of the esophagus ?
W. Hohenberger, H. Ernst, P. Koerfgen (Erlangen-Nürnberg)
Despite the statement by Ferguson (1969), that the same clinical picture is described by gastroenterologists as diffuse spasm, by radiologists as segmental spasm or corkscrew esophagus, and by surgeons as giant muscular hypertrophy, this entity comprises two separate clinical presentations: first, diffuse muscular hypertrophy of the wall of the entire thoracic esophagus which may present as a stenosing esophageal tumor with intact mucosa, and second, the true corkscrew esophagus. In the literature, obvious cases of achalasia are occasionally included in this clinical picture. We encountered this problem in one patient.
Our patient reported increasing dysphagia over six months with immediate vomiting following ingestion of food and consequent weight-loss (13 kg). CT-scan showed
a very extensive eccentric thickening of the wall of the entire thoracic esophagus up to a maximum of more than 2 cm (figure. 1).
Figure 1. CT-scan showing circular thickening of the esophageal wall.
At endoscopic examination a long, severe stricture was found, suggestive of esophageal carcinoma, even though the mucosa was intact. It was assumed that this tumor was diffusely invading the esophageal wall. The diagnosis of giant muscular hypertrophy was not suspected, nor that of a corkscrew esophagus. Barium swallow demonstrated a long stricture of the thoracic esophagus without any corkscrew-like contractions or angulation of the esophagus (figure 2). 24-hour
Figure 2. Barium swallow showing a long stricture of the esophagus without corkscrew-like appearances.
pH measurement was not performed preoperatively; however the postoperative measurements were within normal limits.
After right-sided thoracotomy, an exceptionally large leiomyoma was suspected. However, after mobilisation of the esophagus, it was evident that a diffuse muscular hypertrophy of the esophagus was the real diagnosis. At that point, two surgical options were considered :
2. Subtotal esophageal resection with gastric interposition.
We finally decided to perform an esophageal myotomy extended over the entire hypertrophic esophagus, in other words, a total thoracic myotomy (figure 3).
Figure 3. Operative site following myotomy not involving the mucosal layer.
Histologic examination of incisional biopsies of the thickened wall demonstrated bundles of smooth muscle separated by fibrous septa with scattered perivascular
Figure 4. Histologic examination demonstrating bundles of smooth muscle separated by fibrous septa with scattered perivascular lymphocytic infiltrates.
lymphocytic infiltrates (figure 4, 100 x). There was very marked hypertrophy of the smooth muscle fibers with enlarged and irregular nuclei (figure 5). Prominent feature
Figure 5. Part of incisional biopsy with hypertrophy of smooth muscle fibers with enlarged and irregular nuclei.
were : changes in the myenteric plexus, extensive infiltration by lymphocytes and plasma cells around proliferated nerves, and ganglion cells with degenerative changes (figure 6 and 7 (400 x)). Summarizing, there was prominent hypertrophy.
Figure 6. Infiltration of lymphocytes and plasma cells around nerves and ganglion cells (myenteric plexus) stained brown by S-100-Antigen.
but not hyperplasia, of the esophageal muscle and inflammatory hyperplastic and degenerative features of the neural structures.
The postoperative course was complicated by two fistulas which needed reoperation, omentoplasty and endoscopic fibrin sealing.
It is now 3 years since the patient has presented several times with problems in swallowing, intermittent weight-loss and bleeding from ulcers at one site. Reflux was never found. The stricture is no longer visible, but the esophageal wall is still irregular. In general, the patient is able to ingest food normally (figure 8).
Our patient is still symptomatic. Manometry reveals a raised resting pressure (150mmHg) of the upper esophageal sphincter with normal relaxation, tertiary peristalsis in the tubular esophagus with reduced contraction amplitude, and increased resting pressure as well as the absence of a high-pressure zone in the lower esophageal sphincter. Transmission of peristalsis is not found. The operation has been a success insofar as the patient no longer vomits and has gained weight.
Any conclusions derived from the experience of one case must be of limited value.
Figure 8. Barium swallow 8 months after surgery without relevant stricture but showing irregularities of mucosal layer.
However, descriptions of true corkscrew esophagus include findings which are completely different from the giant muscular hypertrophy in our case. First, this extent of muscular hypertrophy never occurred in those cases diagnosed as corkscrew esophagus. Second, one would not expect the long, permanent strictures induced by extreme mural thickening to acquire a corkscrew shape.
Assuming that giant muscular hypertrophy is a separate entity, the question is how to diagnose it adequately. Endoscopy seems to be of minor relevance, but CT-scan and barium swallow may lead to the diagnosis. Additional examinations may be of lesser importance, but they may help to exclude other disorders such as possible preoperative reflux or diffuse esophageal dysfunction.
The main problem is that of the correct surgical treatment. In our view, complete myotomy extending over the entire hypertrophic musculature involved may be the treatment of choice. This seems the more important since we know, that esophageal resection for functional disturbances may lead to the same problems in the part of the esophagus left behind, even if this is small. However, the almost semicircular extended separation of the muscular layer of the mucosa increases the risk of mucosal leaks and may therefore be disadvantageous. It was done because true diagnosis was not made initially. Furthermore, it seems unjustified to extend myotomy to the gastroesophageal junction, especially if this is not involved in the muscular hypertrophy.