Congenital Short Esophagus Research Articles

Central diaphragmatic hernia and congenital short esophagus: Embryology and long-term follow-up

We present a rare case of congenital diaphragmatic hernia (CDH) with intrathoracic stomach associated with a congenital short esophagus (CSE) prenatally diagnosed in a male fetus. The unusual hernia appeared right-sided but did not contain liver, instead containing stomach, small and large bowel, and spleen. The infant was delivered preterm at 32 weeks gestation. At 9 days of age, the spleen, small bowel, and large bowel were reduced into the abdominal cavity. The stomach was only partially reduced because of the CSE. Gastropexy and a gastrostomy were also performed. The diaphragmatic defect was fixed around the stomach, which later presented problems requiring another surgery. 1. Tracheostomy placed (3 months) 2. Stomach repositioned more into the abdominal cavity and gastrostomy redone (8 months) 3. Duodenoplasty (postoperative small bowel obstruction) (9 months). The patient is currently alive at 11 years old and continues with a gastrostomy tube (g-tube) and tracheostomy dependent. To the best of our knowledge, this patient is the longest surviving patient with CDH and intrathoracic stomach caused by CSE. Early diagnosis and continued monitoring remain a key feature to survival.

Case 2: Respiratory Distress and Chronic Aspiration

A gravida 6, para 4 mother presents with spontaneous labor at 37 1/7 weeks’ estimated gestational age (EGA). The pregnancy is uncomplicated, but ultrasonography reports polyhydramnios. Delivery occurs via repeat cesarean section. Copious oral secretions and significant work of breathing are noted at delivery, requiring positive pressure ventilation and intubation of the newborn. The patient undergoes extubation a few days after birth and is weaned to room air. Oral feeds are attempted after extubation, but choking and gagging occur. The care team discusses possible differential diagnoses, such as esophageal atresia/tracheoesophageal fistula (TEF), esophageal webs, esophageal strictures, esophageal diverticulum, tubular esophageal duplications, congenital short esophagus, and tracheal agenesis/atresia. During an upper gastrointestinal series, the patient has bradycardia and desaturations. The study images are interpreted as an H-type TEF. A gastrostomy tube is placed to decompress the stomach, and nutrition is provided via total parenteral nutrition (TPN). The patient is also found to have a horseshoe kidney and an atrial septal defect. Microarray of chromosomes is normal. The patient continues to require numerous modes of ventilatory support including high-flow nasal cannula and reintubation. Because of a lack of improvement in respiratory status despite providing standard care for a TEF, the team investigates the patient’s anatomy more thoroughly. Bronchoscopy shows a large defect that connects the esophagus and larynx. The first attempt at tracheoplasty/esophagoplasty is performed via a lateral thoracotomy approach, but is ultimately unsuccessful. The patient returns to the operating room (OR), where a breakdown of the repair site and a blind pouch are noted on bronchoscopy between the carina and native esophagus. After this procedure, the patient is transferred …

Prevalence of Barrett's esophagus in Japan

Norman Barrett originally described two special conditions, namely, a congenital short esophagus with an intrathoracic gastric columnar lining and congenital gastric heterotropia in the esophagus with ulceration. Thereafter, these conditions began to be known as “Barrett's esophagus.” It is an acquired condition of esophageal columnar metaplasia following chronic gastroesophageal reflux, and the classical Barrett's esophagus has been defined as having a circumferential columnar metaplasia spreading minimally 3 cm or more upward from the esophagogastric junction, because the esophagogastric junction still tends to be difficult to recognize precisely. Recently, from the point of view of adenocarcinogenesis of the esophagus, the term and concept of short-segment Barrett's esophagus (SSBE) as a developing condition of the classical Barrett's esophagus and the confirmation of intestinal metaplasia has been required; however, the definition of Barrett's esophagus still remains controversial. In Japan, although the prevalence of short-segment Barrett's esophagus has been reported to vary considerably, from 1% to 52%, the prevalence of long-segment Barrett's esophagus (LSBE) tends to range from 0% to 2%, which is a quite lower rate than that observed in Western countries. The great difference in the prevalence of SSBE is caused by the differences in the criteria of the esophagogastric junction and the definition concerning the necessity of intestinal metaplasia. A universally accepted definition of Barrett's esophagus is thus needed to accurately determine its actual prevalence.

“Total Gastric Dissociation (TGD)” in Difficult Clinical Situations

Since the first report by Bianchi in 1997, TOGD has been found to be safe and effective in patients with gastro-oesophageal reflux (GOR) with neurological impairment. This paper explores the versatility of total gastric dissociation (TGD) in difficult clinical situations. The medical records of 11 neurologically normal children treated with TGD and gastrostomy after failure of conventional procedures between 1999 and 2004 were reviewed with respect to demographic data, initial diagnosis, previous operations, postoperative complications, feeding pattern, and follow-up. There were 7 males and 4 females. The mean age at operation was 52.7 months (24 to 72 m). The indications were severe colo-oesophageal reflux in 3; 1 post-fundoplication necrotic stomach; 1 gastric remnant after subtotal gastrectomy for bleeding; 1 microgastria; 2 with severe oesophageal obstruction following repeated failed repair of congenital stenosis of the oesophagus and after fundoplication; 1 congenital short oesophagus with left-sided congenital diaphragmatic hernia; and 2 with severe dysfunctional oesophagus following repair of congenital tracheo-oesophageal cleft. Full oral or gastrostomy feeding was established by the 5th postoperative day. The average follow-up was 47.2 months (24-72 months). There were 4 late deaths in the group: 2 with respiratory failure, 1 with sepsis secondary to peritonitis (small bowel herniation into the thorax) and 1 with pneumococcal infection. Seven patients are alive and thriving with markedly reduced episodes of chest infections and hospitalizations. In this study TGD presented with no peri-operative morbidity and mortality and had good long-term results. The procedure offers a safe alternative for neurologically normal children after the failure of conventional surgical procedures.

Antenatal detection of hiatus hernia

A routine ultrasound scan in a primigravida at 29 weeks' gestation showed that her fetus had a fluid-filled viscus above the diaphragm in the mid-line. This was initially thought to be the stomach, either as part of a congenital Bochdalek diaphragmatic hernia or an hiatus hernia. Subsequent scans suggested that this was the stomach with an additional loop of bowel. After birth, laparotomy confirmed that the stomach had herniated into the chest through a very lax oesophageal hiatus. The stomach was easily reduced into the abdomen with no evidence to suggest a congenital short oesophagus, the crura were tightened, and an anterior fundoplication performed.

Congenital intrathoracic stomach

This paper reviews the presentation and management for congenital intrathoracic stomach (CIS). The features that distinguish CIS from congenital short oesophagus and acquired oesophageal shortening are emphasised. The study is based on a retrospective review of six patients treated between 1988 and 1994. The four youngest presented with vomiting and the older two with respiratory symptoms. Chest radiographs were abnormal in every case, although the precise diagnosis was confirmed by barium meal. All cases were repaired through an abdominal approach; in each case the oesophagus was of sufficient length to allow the stomach to lie below the diaphragm. CIS is an uncommon condition. The most frequent cause is a large hiatus hernia, and the transabdominal route is the most satisfactory approach for operative repair.

Gastric transposition for esophageal substitution in children

Fifty-four gastric transposition procedures have been carried out for esophageal substitution in the 10-year period 1981 through 1990. The indication for esophageal replacement was esophageal atresia in 36 (19 long-gap atresia with distal fistula and 17 isolated atresia), caustic stricture in 9, intractable peptic reflux stricture in 3, 2 achalasia and 1 each of prolonged foreign body impaction, diffuse leiomyoma, congenital esophageal stenosis, and congenital short esophagus. Eight patients had previously undergone an unsuccessful colonic replacement procedure. The age at gastric transposition ranged from 4 months to 16 years. The procedure of choice was posterior mediastinal transposition without thoracotomy in 37 cases. The esophagogastric anastomosis leaked in 7 patients (12.9%), all of which closed spontaneously, whereas 5 patients developed an anastomotic stricture that responded to bouginage. There were 5 deaths (9.2%). Major complications developed postoperatively in 12 patients: 4 required additional gastric drainage procedures, 2 required temporary tracheostomy, 2 developed adhesion obstruction, and 1 each developed paraesophageal hernia, leakage of the jejunal feeding tube, tracheomalacia, and major hemorrhage following resection of a colonic graft. Major but temporary feeding problems were encountered in 12 children. Medium-term results were assessed as excellent in 67%, good in 20%, fair in 6%, and poor in 6% of the 34 patients surviving longer than 1 year postoperatively (ie, excluding 7 patients lost to follow-up).

Barrett's esophagus.

Barrett's esophagus denotes the presence of columnar epithelium in the esophagus instead of the usual stratified squamous epithelium. Barrett's esophagus had been thought to represent a mediastinal extension of the stomach in patients with a congenital short esophagus. Subsequent clinical and experimental data have established the abnormality as an acquired condition resulting from chronic gastroesophageal reflux. Although roentgenographic studies may show a mild-esophageal stricture or an esophageal ulcer, definitive diagnosis requires endoscopy with directed biopsy of erythematous mucosa in the esophagus, or manometrically guided biopsies for showing the presence of columnar epithelium above the lower esophageal sphincter. Although the origin of the cells causing this epithelium is still unclear, three distinct epithelial types have been found: atrophic gastric-fundic, junctional, and specialized columnar. Esophageal strictures and esophageal ulcers are complications associated with Barrett's esophagus, but its major significance is the association with the development of adenocarcinoma of the esophagus. Treatment of Barrett's esophagus is aimed at preventing gastroesophageal reflux with the additional need for close endoscopic surveillance for the development of dysplasia or early adenocarcinoma. Whether the diagnosis of Barrett's esophagus mandates anti-reflux surgery (fundoplication) remains controversial.

Congenital short esophagus in the newborn.

A 29-day-old newborn presented with semiprojectile vomiting, failure to thrive, and roentgenographic evidence for a congenital short esophagus with partial thoracic stomach. Anatomic findings confirmed the presence of a congenital short esophagus with partial thoracic stomach in the absence of stricture or hiatal hernia. The finding of squamous metaplasia involving mucus-secreting glandular epithelium with conversion to normal esophageal-type mucosa was reported. The possible significance of this morphologic change lies in the fact that it removes a potential source of protective mucus and provides a surface of esophageal-like mucosa in a partial thoracic stomach that could lead to ulceration and stricture formation.

The natural history of the partial thoracic stomach (hiatus hernia) in children.

'It appears to me a most excellent thing for the physician to cultivate prognosis . . . he will manage the cure best who has foreseen what is to happen from the present state of matters.' Notwithstanding the enormous medical achievements of the past half century this Hippocratic counsel remains today as fundamental a truth as when first propounded some 2,000 years ago. Regrettably, however, this aspect of medical knowledge is all too frequently ignored. There is no doubt that in the case of children with a partial thoracic stomach ('hiatus hernia', 'congenital short oesophagus') the divergent views expressed on prognosis and on the need for and value of particular forms of treatment emanate from a lack of a clear understanding of the natural history. The present review is aimed at remedying this deficiency and constitutes an attempt to outline the clinical progress of children affected with a partial thoracic stomach in the absence of either surgical or postural therapy.

The Gastro-Esophageal Region in Infants

Improvements in surgical and roentgenographic technics have led to more frequent diagnosis of conditions due to defects in the closing mechanism between the esophagus and the stomach in infants. This paper presents detailed anatomic observations on the components of the normal closing mechanism and relates the findings in clinical conditions, such as partial thoracic stomach, hiatus hernia, congenital short esophagus, and cardio-esophageal relaxation or chalasia. The muscle fibers and the connective tissues of the diaphragm form an important mechanism to prevent regurgitation of the contents of the stomach into the esophagus. Normally, this mechanism is extremely competent. The present study is based upon detailed dissection of 115 subjects. In the majority, the ages ranged from a few hours to 1 month. The clinical manifestations of abnormalities in the diaphragmatic closing mechanism are related to the anatomic findings in each of the principal types of disorders.

Endoesophageal Skin Graft in Corrosive Strictures

Although strictures of the esophagus due to corrosives in recent years are relatively less frequent than in the past, owing largely to the efforts of Dr. Chevalier Jackson, nevertheless strictures due to such materials still occur. 1,2 In our department at The Hospital for Sick Children in the past five years, although we have had 19 patients with strictures of the esophagus due to corrosives, strictures due to congenital abnormalities of the esophagus have been seen more commonly. Most noteworthy in this respect is stricture following the operation for tracheoesophageal fistula with stenosis of the esophagus and that following surgery on the esophagus where an anastomosis is carried out. In this period, treatment by dilatation has been necessary for 35 patients following operation for tracheoesophageal fistula, 8 patients with stricture as a result of hiatal hernia or congenital short esophagus, and 3 patients with stricture following other surgery. Fortunately such

Gastroesophageal incompetence, partial intrathoracic stomach, and vomiting in infancy.

In 1947, Neuhauser and Berenberg (22) described the mechanism for some cases of persistent vomiting in infancy under the term cardioesophageal relaxation or chalasia. The free flow of a barium mixture between the stomach and the persistently dilated esophagus, under the influence of position and gravity (Fig. 1), was attributed to temporary neuromuscular dysfunction involving the diaphragm and the intrinsic gastroesophageal musculature. Local disease in the region of the gastroesophageal junction or in the central nervous system was believed to account for some cases. The condition was to be differentiated from “congenital short esophagus” and partial intrathoracic stomach due to diaphragmatic hernia; prompt and gratifying cessation of symptoms was said to occur if the infant was maintained in an erect position. This postural treatment impeded reflux of gastric contents into the esophagus, and within three to four weeks clinical and radiologic recovery took place. Subsequently, English observers (2, 6), also concerned with the problem of vomiting in children, reported that partial thoracic stomach (Fig. 2) was a more common cause for gastroesophageal incompetence than chalasia. Moreover, the development of what had previously been called “congenitally short esophagus” (Fig. 3) was shown to occur as a sequel to the gastroesophageal incompetence of the malpositioned cardiac orifice. Largely through the work of the British group, it now appears clear that the condition previously known as congenital short esophagus probably represents shortening due to cicatricial contraction of a chronically inflamed esophagus irritated by reflux of gastric contents in the course of persistent vomiting. Experimental studies in animals (7) have shown that direct stimulation of the vagus nerve, or of the gallbladder, the peritoneum, or other intra-abdominal structures, can result in reflex contraction of the esophagus which, if the thorax is open, can produce a definite esophageal hiatus hernia of the stomach. Why the herniation does not occur, although the contraction does, if the thorax is closed, has not been explained. The irritation of the reflux esophagitis is thought to be able to produce such reflex shortening of the esophagus. This disordered arrangement of structures, according to popular theory, then aggravates any pre-existing cardioesophageal insufficiency and further reflux occurs to the extent that cicatricial scarring not only produces irreversible change but may actually lead to stricture formation. Although the majority of infants with partial thoracic stomach apparently respond to postural treatment comparable to that used for chalasia, surgery has been considered for the prevention of strictures.

Reflux oesophagitis and its radiological differential diagnosis.

I Have been given the privilege of presenting a series of oesophageal cases collected by all members of the Wessex Branch. In order that these radiological demonstrations should have a theme, a clinical and pathological background of the cases was necessary, and after they had been collected it became apparent that the subject of “Reflux Oesophagitis and its Radiological Differential Diagnosis” developed. During the previous decade, stimulated by the work of Allison (1951), Barrett (1951) and Johnstone (1951), the syndrome of reflux oesophagitis has become well known, and now that one is aware of the condition it is frequently found during routine barium examinations. The term “Reflux Oesophagitis”, coined by Allison, denotes an inflammatory reaction by the squamous epithelium in the distal oesophagus to regurgitation of gastric juice. In my opinion, in the vast majority of cases, the disease is acquired and congenital short oesophagus is a rarity. The initiating factor appears to be any condition which causes prolonged bouts of vomiting or retching, e.g. peptic ulceration of the stomach and duodenum, liver and gall-bladder disease, pregnancy or alcoholism; associated with a susceptibility of the oesophageal squamous epithelium to the action of gastric juice. The resistance of this epithelium appears to vary widely from one person to another. In a proportion of individuals an acute inflammation with superficial ulceration of the distal oesophagus ensues, and the radiological appearance at this early stage is illustrated in Case 1 (Fig. 1).

CONGENITAL SHORT ESOPHAGUS WITH THORACIC STOMACH AND ESOPHAGEAL HIATUS HERNIAS

Herniation of the stomach into the thorax by way of the esophageal hiatus is encountered with increasing frequency as efforts to diagnose or suspect it clinically are intensified by more relevant information regarding the condition. Various authors have attempted to define typical symptoms or symptom complexes since Bailey 1 in 1919 wrote of the thoracic stomach which was associated with a congenital short esophagus. We are now familiar with another similar but more common entity in which the esophagus is of normal length, best referred to as esophageal hiatus hernia. The present report presents a survey of forty-seven cases taken from the St. Luke's Hospital records in an attempt to analyze further clinically the symptom relationship. There were fourteen in which there was a congenital short esophagus with partial or complete thoracic stomach; thirty-three presented an esophageal hiatus hernia with varying degrees of stomach herniation. All presented positive roentgenographic, esophagoscopic

CONGENITAL SHORT ESOPHAGUS: WITH PARTIAL THORACIC STOMACH

A description of congenital short esophagus is not to be found in the general or special textbooks. While it is reasonable to suppose that this condition is not rare, only a small number of cases have been reported. Reports concerning this entity have appeared since 1930, cases having been described by Kelly,¹Findlay and Kelly,²Jacob, Tweedie and Negus,³Wright,⁴Monkhouse and Montgomery⁵and Clerf and Manges.⁶ Since the deficiency in the length of the esophagus is made up by a portion of the stomach, the term "partial thoracic stomach" has been annexed to it. This term is used to distinguish the condition from hiatal or para-esophageal hernia, in which a portion of the stomach herniates through the hiatus and in which the esophagus either is below the diaphragm or is carried into the thorax with the herniated stomach. The esophagus, however, either straight