Congenital esophageal stenosis

Pediatric Surgery

Pediatr Surg Int (1987) 2 : 8 6 - 9 2

International

© Springer-Verlag 1987

Original articles

Congenital esophageal stenosis A review o f 20 c a s e s C. NihouI-F~k~t~ ~, A. De Backer I, S. Lortat-Jacob 2, and D. Pellerin 2 ~Academic Hospital for Children, Free University of Brussels, B-1200 Brussels, Belgium 2 Department of Pediatric Surgery, H6pital des Enfants Malades, 149, rue de S6vres, F-750 15 Paris, France

Abstract. A series of 20 patients with congenital esophageal stenoses (CES), including 4 with tracheobronchial remnants, 6 with membranous diaphragm, and 10 with fibromuscular stenosis, is presented. The experience acquired by treating these patients is compared to 95 cases from the literature and a definition of CES is proposed. The 35% association of CES with other anomalies, especially esophageal atresia, is analyzed and some difficulties in the treatment of this rare anomaly are discussed. Key words: Esophageal stenosis - Congenital Dysphagia - Malformation.

Introduction Some 30 years ago, nearly all esophageal stenosis in children were thought to be congenital. As the impact of gastroesophageal reflux (GER) on esophageal pathology became evident, it seemed obvious that most of these previously reported "congenital" stenoses had in fact been acquired by acid-peptic corrosion [18, 3]. There can be no dispute about the existence of Congenital esophageal stenosis (CES), although the differential diagnosis can be very difficult. CES is an extremely rare affection: its incidence has been estimated at 1 : 25,000-50,000 live births [3, 24]. The literature on this subject, built up from isolated case reports, totals about 100 well- documented cases, but is confusing and obscure as regards the exact

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definition of CES and its possible anatomical variants. Ohkawa et al. [21] reports the following entities under the category of CES: tracheobronchial remnants, fibromuscular stenosis, esophageal epithelioma, short esophagus, and achalasia. Myers [18] mentions only tracheobronchial remnants and membranous diaphragm. Petit et al. [24], Sneed et al. [28], and Steiner et al. [31] consider that there are congenital fibromuscular stenoses as well as tracheobronchial remnants and membranous diaphragm, but caution is indicated as even a case of probable herpetic esophageal stenosis in a child with generalized neonatal herpes simplex infection has been reported as congenital [35, 26]. We propose a clear-cut definition of CES, which in our opinion should be as follows: an intrinsic stenosis of the esophagus, present although not necessarily symptomatic at birth, which is caused by congenital malformation of esophageal wall architecture. This malformation may include: (a) the presence of ectopic tracheobronchial tissue (cartilage, respiratory mucous glands, a n d / o r ciliated epithelium); (b) the presence of a membranous diaphragm; or (c) segmental hypertrophy of the muscularis and submucosal layers with diffuse fibrosis ( = fibromuscular stenosis). In the absence of definite histologic proof, it is mandatory to exclude all postnatally acquired stenoses (peptic, caustic, infectious, tumoral cicatricial), extrinsic compression of the esophagus, and achalasia. We shall support this definition on the basis of our experience with 20 cases which have been treated during the past 25 years. The association with other congenital anomalies is mentioned and some principles of treatment are discussed.

87 Table 1. Survey of 20 patients with congenital esophageal stenosis Case Sex Associated No. anomalies

Age at onset of symptoms

Age at time of diagnosis

Site of stenosis

Year of Treatment treatprocedure ment

Complications

Final result

FolPathology low-up (years)

17

Cartilage Seromucous glands

A. Stenosis caused by tracheobronchial remnants 1

M

-

6 months

13 months

T11

1960

Segmental resection with esophago gastric anastanosis pyloroplasty

Development of gastroesophageal reflux

?

2

M

Duodenal atresia

4 months

15 months

T11

1969

Failure of dilatations, Excision of stenotic area and closure with fundal patch (Thai)

Stenosis of the anastomosis ~ dilatationg

Good

8

Cartilage Seromucous glands

3

F

Duodenal atresia Midgut malrotation

1 month

1 month

T11

1977

Failure of dilatations, Segm. resection fundoplication anterior

Stenosis of the anastomosis ~ dilatations

Good

6

Ciiliated epithelium Seromucous glands

4

M

Trisomy 21 syndrome

1 month

15 months

T11

1984

Seg~nental resection fundoplication Nissen

-

Good

1.5

Ciiliated epithelium Seromucous glands Cartilage

1 month

T4

1962

Segmental resection

-

Good

16

Membranous diaphragm covered by normal squamous epithelium

14 months

T4

1964

Failure of dilatations. Segmental resection

-

Good

14

Membranous diaphragm covered by normal squamous epithelium

9 months

T8

1975

Excision of diaphragm, transverse closure of the esophagus

Development of severe gastroesophageal reflux. Nissen operation

Good

10

Membranous diaphragm covered by normal squamous epithelium

9 months

T9-T10

1981

Segmental resection

-

Good

1 ~/2

Membranous diaphragm covered by normal squamous epithelium

T9

1983

Failure of dilatations, Segmental resection, Nissen operation

Anastomotic leak ~ drainage

Good

2

Membranous diaphragm covered by normal squamous epithelium

B. Stenosis caused by membranous diaphragm 5

F

-

birth

6

F

-

7

M

-

8

F

-

6months

9

M

-

1 month

1 month

birth

11 years

88 Table 1. (continued) Case Sex Associated No. anomalies

10

F

Age at onset of symptoms

Age at time of diagnosis

Site of stenosis

Year of Treatment treatprocedure ment

Complications

Final result

6 months

16 months

T4

1985

Segmental resection

-

Good

-

FolPathology low-up (years) Membranous diaphragm covered by normal squamous epithelium

C. Fibromuscularstenoses 11

M

-

14 months

3 t/2years

T10

1985

Failure of dilatations, Segmental resection, Nissen operation

Anastomotic leak ~ drainage

Good

12

F

-

birth

2 months

T6

1961

Bougienage

-

Good

10

No histologic examination

13

M

Esophageal atresia

10months T8

1961

Bougienage

-

-

No histologic examination

14

F

-

14 months T4

1962

Bougienage

-

Lost to follow-up Good

15

F

-

6 months

16 months

T9

1967

Bougienage

-

16

M

Tracheoesophageal fistula

5 months

8 months T8

1968

17

M

-

17 months 21 months T8

18

M

Congenital heart defect

10 months

19

F

-

20

F

Apert syndrome

Materials

6months

birth

1.2

Localized proliferation of smooth muscle fibers embedded in connective tissue

2

No histologic examination

Good

6

No histologic examination

Bougienage

Good

10

No histologic examination

1968

Bougienage

Lost to follow-up

-

No histologic examination

T8

1982

Single dilatation

3 months

6 months T4

1983

10months

18months T10

1984

4~/2years

and results

D u r i n g t h e p a s t 25 y e a r s ( 1 9 6 0 - 1 9 8 4 ) , t h e d i a g n o sis o f c o n g e n i t a l s t e n o s i s w a s m a d e i n 20 p a t i e n t s at t h e H o p i t a l des E n f a n t s M a l a d e s i n Paris. D u r i n g this s a m e p e r i o d , 484 e s o p h a g e a l a t r e s i a s , 105 caustic esophageal stenoses (mostly from North A f r i c a n c o u n t r i e s ) , a n d 89 p e p t i c e s o p h a g e a l stenoses were treated surgically.

Iatrogenic perforation of the esophageus ~ drainage

Good

2

No histologic examination

Single dilation

Good

2

No histologic examination

Bougienage

Good

1

No histologic examination

T h e 20 p a t i e n t s (10 b o y s a n d 10 girls) w e r e a g e d b e t w e e n 1 m o n t h a n d 11 y e a r s at t h e t i m e o f d i a g n o s i s ( T a b l e 1).

S y m p t o m s a n d signs T h r e e p a t i e n t s p r e s e n t e d e a r l y i n life w i t h s e v e r e d y s p h a g i a for liquids, characterized by regurgitat i o n w i t h i n m i n u t e s a f t e r f e e d i n g . I n 13 d y s p h a g i a

89 became significant with the introduction of semisolid and solid foods around 6 months. In 4, dysphagia became prominent at a later time. Excessive oral salivation, recurrent respiratory tract infections, and staturoponderal growth retardation have all been described in the literature, but these features were not very prominent in our cases. In 17 of 20 patients, the diagnosis was made before the age of 2 years.

Associated malformations There was one case of esophageal atresia with distal tracheoesophageal fistula, one H-type tracheoesophageal fistula, two cases of duodenal atresia, one congenital cardiac malformation (VSD), one Apert syndrome (acrocephalosyndactyly), and one Down's syndrome. One of the two patients with duodenal atresia also had a midgut malrotation.

Diagnostic work-up. Upper gastrointestinal (GI) series and endoscopy were carried out in all patients but no endoscopic biopsy was performed. Neither hiatal hernia nor G E R was observed. The supra- and infrastenotic esophageal mucosa and the mucosa overlying the membranes or fibromuscular stenoses had a normal endoscopic appear-

ance; no esophagitis was seen. Radiologically, the stenosis due to tracheobronchial remnants (Fig. 1) appeared very narrow, was situated at the level of T 1 0 - T 11, and the suprastenotic esophagus was firmly dilated. Endoscopically, this type of stenosis was very irregular, rigid, and unyielding (Table 1). The stenosis from the membranous diaphragm was easily visualized both radiologically (Fig. 2) and endoscopically as a thin web with regular contours. In our series, it was situated at the level of T 4 in 3 cases and T 8 - T 10 in 2 cases. Fibromuscular stenoses appeared as regular stenoses (Fig. 3) at the level of T 8 - T 10 in 7 cases and at T 4 in 2 cases, where it appeared regular but curved, similar to a "missed atresia". Endoscopically, this type of stenosis appeared regular and was flexible and easily dilatable.

Treatment Fifteen patients were treated by bougienage; the total duration of treatment varied from 1 month to 5 years. The interval between successive dilatations and the diameter of the bougies was adapted to each individual case. In 9 patients, this method of treatment was successful; in 6 cases where dilatation appeared to be ineffective, surgery was per-

Fig. 1. Radiological appearance of congenital esophageal stenosis with tracheobronchial remnant: the site is low (T10-T11), the stenosis very narrow and irregular (case 2) Fig. 2.Radiological appearance of congenital esophageal stenosis with membranous diaphragm situated at the favored site of type III atresia (case 5) Fig. 3. Radiological appearance of congenital esophageal stenosis with segmental hypertrophy of the muscularis and submucosal layers: note the regular, well-centered stenosis (case 18)

90 formed. Bougienage was felt to be impossible or dangerous in 5 cases, and these patients were operated upon immediately. A thoracic approach was used in 4 patients; 1 had a longitudinal esophagotomy with excision of a diaphragm at the level of T 8 and subsequent transverse closure of the esophagus. Three who had diaphragms at the level of T 4 had minimal segmental resection of the esophagus with end-toend anastomosis. An abdominal approach was used in 7 patients. One had simple excision of cartilaginous remnants at the level of T 11 followed by repair using the Thal fundal patch technique. Another patient also had tracheobronchial remnants at T 11 and underwent segmental resection with esophagogastric anastomosis and pyloroplasty but no antireflux procedure. Two patients had segmental resection with end-to-end esophageal anastomosis, pyloroplasty, and Nissen's fundoplication. Recently, 3 patients underwent segmental resection of the stenotic area with sparing of the vagus nerves, end-to-end esophageal anastomosis, and Nissen fundoplication but no pyloroplasty.

Complications of treatment There was no mortality in this series; three immediate complications of treatment occurred. One patient had an iatrogenic esophageal perforation following a single dilatation. Two who underwent segmental resection via abdominal approach for stenosis at T 9 - T 10 developed postoperative mediastinitis. All three patients had surgical drainage of the mediastinum and recovered from this severe complication without esophageal stenosis.

Final results Two patients with favorable early results have been lost for follow-up; remaining 18 have been followed regularly for periods from 2 months to 17 years postoperatively or post-dilatation (mean: 6 years). Two patients had recurrence of severe dysphagia due to stenosis of the abdominal esophageal anastomosis 5 months postoperatively, and underwent repetitive dilatations. At the present time, 5 and 7 years after their last dilatations, they are doing well and are asymptomatic. Two other patients with abdominal esophageal resection and no Nissen procedure developed severe gastroesophageal reflux and esophagitis 17 and 9 years after the first intervention; one underwent a Nissen fundoplication and is now completely asymptomatie; the other did not

consent to the proposed intervention and has been lost to follow-up. In all remaining 14 patients, a good immediate result was achieved: all patients are totally asymptomatic with normal esophagograms and no GER.

Microscopic examination In the first 4 cases, pathologic examination revealed fragments of cartilage, seromucous tracheobronchial glands, or ciliated epithelium embedded in the esophageal wall (Fig. 4). In cases 5-10, microscopy showed a membranous diaphragm covered by squamous epithelium. Of the last 10 cases, which had been classified as fibromuscular stenosis, only 1 patient had resection; examination of this specimen revealed a localized, circumferential proliferation of smooth muscle fibers embedded in connective tissue (Fig. 5). The epithelium showed no signs of esophagitis, nor did we find a columnar-lined Barrett's esophagus in any of the specimens examined. Discussion In 1969, Bluestone et al. were the first to report the confusion they felt when reading about CES [2], but this report dealt only with fibromuscular congenital stenosis. In the English, German, and French literature, we have found reports of 31 cases of tracheobronchial remnants [1, 2, 5, 6, 8, 9, 11, 12, 14, 19, 21, 23-25, 28-31] 12 cases of membranous diaphragm [10, 15, 21, 22, 24, 27, 28, 31] and 52 cases of fibromuscular stenosis [3, 4, 16, 17, 20, 24, 31-34, 36]. There can be no dispute as to the congenital origin of stenosis from tracheobronchial remnants: the pathogenetic mechanism (sequestration of tracheobronchial tissue in the esophageal wall at the time of separation of the respiratory tract from the primitive esophagus around the 25th embryonal day) has been clearly explained [8, 11, 12, 19, 25]. The distal location of the heterotopic tissue is attributed to the higher growth rate of the esophagus as compared to tracheobronchial growth [8, 23]. The diagnosis is obtainable only on microscopic examination of the entire esophageal wall, as a mere endoscopic biopsy will not show the heterotopic tissue lying deep under a normal mucosa [37]. Membranous diaphragm has been considered to represent a missed form of esophageal atresia [13]. The analogy with membranes in other parts of the digestive tract (called type I atresia, Louw 1967 [1]) far away from any acid-peptic environ-

91 ment, is apparent. We must, however, be aware of the fact that congenital esophageal membranes have to be differentiated from peptic webs; the formal absence of G E R is thus mandatory if a membrane is to be considered congenital. Fibromuscular stenoses, because they are generally treated satisfactorily by bougienage, have not been extensively studied by pathologists. Our case, as well as the three others we found in the literature [3, 4, 34], showed segmental submucosal proliferation of smooth muscle fibers and fibrous connective tissue covered by normal squamous epithelium. At present, no satisfying embryologic or pathogenetic explanation has been given for this lesion. A certain resemblance to hypertrophic pyloric stenosis has been postulated [33]; the fact that all fibromuscular stenoses heal with bouginage probably excludes a peptic origin and favors a congenital malformation. It has been suggested that fibromuscular stenosis or membranous diaphragm could be the result of intratuerine G E R which disappears after birth. Little is known about this phenomenon to date; although it is an interesting working hypothesis, we believe it to be a purely semantic problem. In cases where no histology is available, the diagnosis of CES can only be made if all other causes of esophageal stenosis have been excluded.

In these cases, an upper GI series, a fiberoptic esophagogastroscopy, and if possible esophageal manometry and prolonged esophageal pH monitoring must be performed. The association of CES with other congenital anomalies has not well been established. Nishina et al. [19], in a report of 81 cases in Japan (where, for an unknown reason, the incidence of CES seems to be higher), found associated anomalies present in 17% of all cases. We analyzed 71 welldocumented cases from the literature [14, 24, 31, 36] and added our present series (Table 2): 30 of 90 patients had a total of 38 associated anomalies, an incidence of 33%. The association of CES with esophageal atresia or tracheoesophageal fistula, if unrecognized, may lead to therapeutic problems [16, 22, 34]. As a rule, stenosis due to tracheobronchial remnants and membranous diaphragm will have to be relieved by surgery, whereas most fibromuscular stenoses can be treated satisfactorily by bougienage. A thoracic esophageal stenosis is most easily operated via a right thoracic approach with segmental esophageal resection and end-to-end anastomosis. In low esophageal stenosis, it is important not to produce G E R or alkaline duodenogastric reflux. We believe a Nissen fundoplication should be

Table 2. Summary of anomalies associated with congenital esophageal stenosis

Digestive tract anomalies Esophageal atresia without tracheoesophageal fistula Esophageal atresia with distal tracheoesophageal fistula H-type tracheoesophageal fistula Duodenal diaphragm and atresia Duodenal duplication Midgut malrotation Imperforate anus Anovestibular fistula Cardiac anomalies VSD, ASD, Pulmonic valvular stenosis, and/or patent ductus arteriosus Urinary tract anomalies Hypospadias Ophthalmic anomalies Microphthalmos + iris coloboma Malformation of head, face and limbs Cleft palate Choanal atresia Acrocephalosyndactyly (Apert syndrome) Micrognathia + agenesis of forearm Chromosomal anomalies Trisomy 21 (Down's syndrome) a PS = Present series

No. of cases

References

2 10 3 3 2 2

[16, 22] [8, 11, 16,24,30,341 [17, 32, PSI [10, PSI [111 [10, PS] [8, 13]

!

[19]

4

[1, 22, 24, PS]

1

[~]

1

[191

1 1 1 1

[27] [241 [PS] [171

1

[10,25,33, PS "]

92

performed whenever a distal stenosis is treated through an abdominal approach. Sparing of the vagus nerves will avoid the need to perform a pyloroplasty and subsequent alkaline reflux. Although our experience is very minimal (three patients), no gastric emptying problems or GER developed. Conclusion Congenital esophageal stenosis is a rare cause of dysphagia in infants and is a perexclusionem diagnosis. Three histological types may be described; fibromuscular stenosis can be cured by bougienage, but the membranous diaphragm and tracheobronchial remnants must be excised; a Nissen fundoplication is necessary in all low esophageal resections to prevent the occurrence of severe postoperative reflux esophagitis. We thank Prof. C. N6zelof for the pathological studies.

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Received February 28, 1986