Alport syndrome (AS) is a hereditary disease characterized by glomerular nephropathy progressing to end-stage renal disease, frequently associated with sensorineural deafness and ocular abnormalities. Rarely, AS coexists with diffuse leiomyomatosis, a benign proliferation of smooth muscle in the gastrointestinal tract, mostly of the oesophagus, but also of the tracheobronchial tree and the female genital tract. Patients with this association have been shown to have contiguous gene deletion involving both COL4A5 and COL4A6 genes. The authors report the case of a 25-year-old man with AS and long-standing dysphagia. The patient received a renal transplant at the age of 23 because of end-stage renal disease. Clinical assessment as well as endoscopic, manometric and radiologic studies suggested the diagnosis of achalasia, which was treated by Heller's myotomy with Dor fundoplication. Postprocedure dysphagia led to an endoscopic ultrasound that showed diffuse thickening of the second layer, resulting in the hypothesis of oesophageal leiomyomatosis. The diagnosis was confirmed through histological study of endoscopic biopsies and genetic analysis.

Rapid sequence induction and intubation (RSII) and awake tracheal intubation are commonly used anesthetic techniques in patients at risk of pulmonary aspiration of gastric or esophageal contents. Some of these patients may have a gastric tube (GT) placed preoperatively. Currently, there are no guidelines regarding which patient should have a GT placed before anesthetic induction. Furthermore, clinicians are not in agreement as to whether to keep a GT in situ, or to partially or completely withdraw it before anesthetic induction. In this review we provide a historical perspective of the use of GTs during anesthetic induction in patients at risk of pulmonary aspiration. Before the introduction of cricoid pressure (CP) in 1961, various techniques were used including RSII combined with a head-up tilt. Sellick initially recommended the withdrawal of the GT before anesthetic induction. He hypothesized that a GT increases the risk of regurgitation and interferes with the compression of the upper esophagus during CP. He later modified his view and emphasized the safety of CP in the presence of a GT. Despite subsequent studies supporting the effectiveness of CP in occluding the esophagus around a GT, Sellick's early view has been perpetuated by investigators who recommend partial or complete withdrawal of the GT. On the basis of available information, we have formulated an algorithm for airway management in patients at risk of aspiration of gastric or esophageal contents. The approach in an individual patient depends on: the procedure; type and severity of the underlying pathology; state of consciousness; likelihood of difficult airway; whether or not the GT is in place; contraindications to the use of RSII or CP. The algorithm calls for the preanesthetic use of a large-bore GT to remove undigested food particles and awake intubation in patients with achalasia, and emptying the pouch by external pressure and avoidance of a GT in patients with Zenker diverticulum. It also stipulates that in patients with gastric distension without predictable airway difficulties, a clinical and imaging assessment will determine the need for a GT and in severe cases an attempt to insert a GT should be made. In the latter cases, the success of placement will indicate whether to use RSII or awake intubation. The GT should not be withdrawn and should be connected to suction during induction. Airway management and the use of GTs in the surgical correction of certain gastrointestinal anomalies in infants and children are discussed.(Anesth Analg 2013;XX:XX-XX).

A patient with early achalasia presented spontaneous strong rhythmic non-propulsive contractions at ~7/min, independent of swallows. Our aim was to evaluate characteristics of the rhythmic contractions, provide data on the structure of pacemaker cells in the esophagus and discuss a potential role for interstitial cells of Cajal (ICC) in the origin of rhythmicity. We hypothesize that intramuscular ICC (ICC-IM) are the primary pacemaker cells. The frequency but not the amplitude of the rhythmic contractions was inhibited by the phosphodiesterase inhibitor drotaverine consistent with cAMP inhibiting pacemaker currents in ICC-IM. The frequency increased by wet swallows but not dry swallows, consistent with stretch causing increase in slow wave frequency in ICC-IM. New studies on archival material showed that ICC-IM were present throughout the human esophageal musculature and were not diminished in early achalasia. Although ICC-IM exhibited a low density, they were connected to PDGFRα-positive fibroblast-like cells with whom they formed a dense gap junction coupled network. Nitrergic innervation of ICC was strongly diminished in early achalasia because of the loss of nitrergic nerves. It therefore appears possibly that ICC-IM function as pacemaker cells in the esophagus and that the network of ICC and PDGFRα-positive cells allows for coupling and propagation of the pacemaker activity. Loss of nitrergic innervation to ICC in achalasia may render them more excitable such that its pacemaker activity is more easily expressed. Loss of propagation in achalasia may be due to loss of contraction-induced aboral nitrergic inhibition.

OBJECTIVE::

To perform long-term histopathological and clinical assessment of patients who have previously undergone cardiomyotomy for achalasia.

BACKGROUND::

There are few studies on long-term outcome for patients treated by cardiomyotomy for achalasia. Recent publications suggest that these patients may be at high risk of both squamous cell carcinoma and adenocarcinoma of the esophagus.

METHODS::

All patients, in whom at least 5 years had elapsed since laparoscopic cardiomyotomy for achalasia, were identified from a prospective database. Patients were invited to attend for endoscopy and clinical outcome was assessed by questionnaire.

RESULTS::

Out of 171 patients identified, 2 had died from esophageal carcinoma. Of the remainder, 68 were recruited [mean age 52 years (range 26-72)]. Fifty-six percent reported minimal symptoms and 6% experienced frequent reflux symptoms. Almost all patients (93%) reported some dysphagia, but dysphagia scores remained significantly lower than preoperatively (P < 0.0001). Quality of life was comparable to normal subjects, and 97% of patients indicated they had made the correct decision to undergo surgery. At endoscopy 83% had evidence of chronic inflammation in the distal esophagus on histopathology, including 22% with moderate to severe esophagitis and 7% with Barrett's esophagus. Five patients showed esophageal candidiasis, and 2 had eosinophilic esophagitis. No dysplasia or malignancy was identified.

CONCLUSIONS::

The clinical outcome remains excellent in most patients at long-term follow-up after cardiomyotomy for achalasia. Surveillance endoscopy might identify high-risk patients but routine endoscopy in all patients is probably not necessary, particularly early after surgery.

Treatment results of 207 patients with the benign diseases of the esophagus, operated on during 2009-2012yy, were analyzed. The diseases included the burn stricture of esophagus, cardiospasm, esophageal achalasia, hiatal hernias and diverticles. Indications to different treatment algorithms were substantiated. Postoperative complications were registered in 22 (10.6%) patients; the postoperative lethality was 1.6%. The authors concluded the high efficacy of the used methods of treatment.

The aim of this study was to assess changes between primary classification of esophageal motility disease and follow-up classification by high resolution manometry (HRM) and to determine whether previously classified diseases could be recategorized according to the updated Chicago Classification published in 2011. We reviewed individual medical records and HRM findings twice for each of 13 subjects. We analyzed primary and follow-up HRM findings based on the original Chicago Classification. We then reclassified the same HRM findings according to the updated Chicago Classification. This case series revealed the variable course of esophageal motility disorders; some patients experienced improvement, whereas others experienced worsening symptoms. Four cases were reclassified from variant achalasia to peristaltic abnormality, one case from diffuse esophageal spasm to type II achalasia and one case from peristaltic abnormality to variant achalasia. Four unclassified findings were recategorized as variant achalasia. In conclusion, esophageal motility disorders are variable and may not be best conceptualized as an independent group. Original classifications can be recategorized according to the updated Chicago Classification system. More research is needed on this topic.

BACKGROUND:

Per-oral endoscopic myotomy (POEM) requires advanced flexible endoscopic skills, especially in the management of complications.

METHODS:

We present a full-thickness esophagotomy while performing POEM and repair using an endoscopic suturing device. STANDARD OPERATIVE TECHNIQUE: An anterior esophageal 2 cm mucosectomy is created 7-10 cm proximal to the gastroesophageal junction after a submucosal wheal is raised. A submucosal tunnel is created and extended to 2 cm on the gastric cardia. A selective circular myotomy is performed. The mucosectomy is closed using endoscopic clips.

CASE PRESENTATION:

An inadvertent full-thickness esophagotomy was created while performing the mucosotomy on an inadequate submucosal wheal. We were able to resume the POEM technique at the initial esophagotomy site. There was a discussion to convert to laparoscopy. However, as we succeeded in creating the tunnel, we continued with the POEM technique. After the selective myotomy was completed, we used an endoluminal suturing device (Overstitch, Apollo Endosurgery, Austin TX) to close the full-thickness esophagotomy in two layers (muscular, mucosal). A covered stent was not an option because the esophagus was dilated, which precluded adequate apposition. The patient had an uneventful postoperative course. At 9-month follow-up, had excellent palliation of dysphagia without reflux.

CONCLUSIONS:

This case demonstrates the importance of identifying extramucosal intrathoracic anatomy, thus emphasizing the need for an experienced surgeon to perform these procedures, or at a minimum to be highly involved. Raising an adequate wheal is crucial before mucosectomy. Inadequacy of the wheal may reflect local esophageal fibrosis. If this fails at multiple locations in the esophagus, it may be prudent to convert to laparoscopy. This case also demonstrates the need for advanced flexible endoscopic therapeutic tools and a multidisciplinary approach to manage potential complications.

To analyze the clinicopathological features and outcome of patients with pathologically proven superficial squamous cell carcinoma of the esophagus.A total of 234 consecutive cases of esophageal carcinoma in a 15-year period were reviewed.Superficial esophageal cancer was found in five patients (2.1%). They were four men and one woman and the mean age was 52.5 years. Smoking and alcohol were the main risk factors. Achalasia due to Chagas disease occurred in one patient and a second primary tumor developed in the larynx in another patient. Four patients underwent esophagectomy and one patient received chemoradiotherapy. The histopathologic diagnosis was of squamous cell carcinoma in all cases. Intramucosal tumor (Tis) was identified in three cases and superficially invasive carcinoma in two cases. Four patients are free of disease with survival times of two, four, six and nine years. The patient who developed laryngeal cancer died six years after esophagectomy.Long-term survival in patients with esophageal cancer is related to early diagnosis. Therefore, a less aggressive surgical approach, such as endoscopic resection, may be a good option for these patients, if depth of tumor invasion can be accurately predicted by the new imaging tools.

INTRODUCTION:

Gastrointestinal stromal tumors (GISTs) of the alimentary canal are malignant tumors with <1% of cases diagnosed in esophagus. These cases require special consideration given their close proximity to vital structures and propensity to be highly aggressive. Management of patients with GISTs has been transformed since the introduction of tyrosine kinase inhibitors. In this report, we present an unusual case of GIST with spontaneous esophageal perforation. PRESENTATION OF CASE: A 39-year-old Caucasian male presented to our hospital with complaints of severe chest and abdominal pain. A diagnostic chest radiograph revealed a moderate right-sided pleural effusion. Subsequently, an esophagram demonstrated a perforation proximal to an elongated stricture in the distal esophagus. A left thoracotomy was performed whereby a large mediastinal mass firmly attached to the esophagus and gastroesophageal junction was encountered. The neoplasm involved proximal one-third of the stomach and perforated into the right hemithorax. Histopathological evaluation of the tumor led to a diagnosis of GIST.

DISCUSSION:

GISTs of the gastroesophageal junction are uncommon and may rarely present with esophageal perforation. The standard of care for treating GIST at present includes tyrosine kinase inhibitors. This pharmacologic agent, along with improved surgical techniques and understanding of molecular markers for accurate diagnosis, will assuredly continue to improve overall survival of patients with GISTs.

CONCLUSION:

When stricture or achalasia is detected on imaging, GIST should be considered in the differential diagnosis for individual patients. Additionally, chest and abdomen CT scans of may be performed to confirm presence of a tumor mass, thereby ruling out achalasia.