Cricopharyngeal Incoordination Research Articles

A case ofFLNAgene mutation with respiratory insufficiency and periventricular heterotopia

Filamin A is an actin-binding protein and, in humans, is encoded by FLNA gene in the long arm of X chromosome. Filamin A plays a role in the formation of cytoskeleton by crosslinking actin filaments in cytoplasm. FLNA mutations affect cytoskeletal regulatory processes and cellular migrating abnormalities that result in periventricular heterotopia. A 5-month-old girl was hospitalized be cause of breathing difficulty and was diagnosed as having periventricular heterotopia with laryngomalacia, cricopharyngeal incoor dination, pulmonary hypertension, and chronic lung disease. A genetic test was performed to find the cause of periventricular het erotopia, and FLNA gene mutation (c.5998+1G>A) was confirmed for the first time in Korea. After discharge, she developed respira tory failure due to a viral infection at 8 months of her age. In spite of management with mechanical ventilation, she died of pneu mothorax and pulmonary hemorrhage. Herein, we report a case of FLNA gene mutation who presented with periventricular nodu lar heterotopia with respiratory insufficiency. (Allergy Asthma Respir Dis 2019;7:158-164)

Clinical Features of Cricopharyngeal Incoordination in Newborns and Infants

Clinical Features of Cricopharyngeal Incoordination in Newborns and Infants

A miotomia do cricofaríngeo: artigo de revisão

A miotomia do cricofaríngeo é um procedimento cirúrgico que pode ser indicado para pacientes com disfagia orofaríngea que, em geral, caracterize-se por distúrbio motor limitado à fase faríngea da deglutição, incoordenação cricofaríngea ou relaxamento incompleto do Esfíncter Esofágico Superior (EES). A indicação da miotomia, porém, tem sido discutida e aplicada em muitos casos, sem efeito na melhora da dinâmica da deglutição. O objetivo deste estudo foi verificar os critérios de indicação e eficácia da miotomia do cricofaríngeo, com base nos estudos da fisiologia da deglutição em pacientes com disfagia orofaríngea. Realizou-se, então, uma revisão da literatura sobre este procedimento e a descrição de seus resultados na dinâmica da deglutição. Os resultados demonstraram que os melhores indicadores para uma miotomia bem sucedida são: fase oral eficiente e boa elevação laríngea durante a deglutição. Assim, para uma adequada indicação da miotomia do cricofaríngeo, não se deve avaliar apenas a fase faríngea e o funcionamento isolado do EES, mas a coordenação e relação entre as fases oral e faríngea da deglutição.

Myotomy for reflux-induced cricopharyngeal dysphagia Five-year review

This report describes 25 patients with reflux-induced cricopharyngeal dysphagia ultimately requiring surgical management. Eighteen patients underwent cricopharyngeal myotomy alone and seven patients required cricopharyngeal myotomy after an antireflux operation failed to correct this symptom. Cricopharyngeal incoordination was demonstrated at manometry in over 90% of patients. Treatment included cricopharyngeal myotomy, which was extended proximally to the pharynx and distally to the intrathoracic esophagus. Results were excellent to satisfactory in 24 of 25 patients. Pathologic examination of the cricopharyngeal muscle demonstrated a wide variety of myopathic degenerative changes. We stress that cricopharyngeal myotomy may be performed even in the presence of reflux without fear of subsequent aspiration.

Cricopharyngeal incoordination in infancy

Cricopharyngeal incoordination in newborns and infants is a polyetiological condition. From 1973 to 1986, 13 patients with defective swallowing mechanisms were seen at our hospital. The patients were divided into two groups. The first group, consisting of 8 patients with transient cricopharyngeal incoordination due to immaturity and birth trauma, did not require surgical intervention. The second group, composed of 5 patients with permanent incoordination, required surgical treatment. Cricopharyngeal achalasia and familial autonomic dysfunction (Riley-Day syndrome) were the most frequent causes in this group. We thought it wise to simplify feedings by using a gastrostomy, which we also used for retrograde dilatation. Permanent cricopharyngeal incoordination may be treated by dilatation or myotomy. Familial dysautonomia required additional surgical procedures, depending on the associated upper gastrointestinal disorder. Indications for myotomy of the cricopharyngeal muscle in infancy have not been clarified to date. Dilatation may improve the passage of food through the upper esophagus, but if this procedure fails, myotomy is indicated.

Diagnosis and treatment of cervical esophageal web

Cineradiography performed in 152 cases of swallowing complaints suggested the presence of a cervical esophageal web in 28 cases (18%). Endoscopy was performed in those among the 28 cases which complained of cervical dysphagia (22 cases) and the web was confirmed in 14 (64%) of these cases. Endoscopic dilatation, with or without bougienage, resulted in a significant or total elimination of the web in nine cases as observed cineradiographically. In another four cases, with cervical dysphagia, and cineradiographically cricopharyngeal incoordination, where endoscopy revealed the presence of a web, dilatation resulted in improvement in symptoms and dietary habits. The connection between iron deficiency anemia and cervical esophageal web was not substantiated, nor was the concept of the web as a precancerous lesion.

Cineradiography in Closed and Open Pharyngeal Swallow

The pattern of swallowing by which the oral bolus reaches an air-containing oropharynx is called an 'open swallow' whereas the sequence in which the oropharynx is collapsed on the arrival of the bolus is called a 'closed swallow'. The significance of this distinction was further analyzed by a correlation with other laryngeal and pharyngeal functions during swallowing in a cineradiologic study in 75 dysphagic patients and 50 asymptomatic volunteers. The relative incidence of open and closed type swallows was similar in the two groups. The maximum elevation of the pharynx and larynx was the same in open and closed swallow, although in individuals with an open swallow the elevation occurred later than in individuals with a closed swallow. Epiglottic movement disturbances, defective closure of the laryngeal vestibule, pharyngeal constrictor muscle paresis, cricopharyngeal incoordination, cervical esophageal webs and Zenker diverticula were significantly more common in individuals with an open pharyngeal swallow than in those with closed swallowing.

Swallowing complaints and cineradiographic abnormalities of the pharynx.

In a retrospective study, a comparison was made between a classification of symptoms and cineradiographic findings to clarify the relevance of roentgenologic findings and thus evaluate diagnostic and therapeutic procedures in patients with swallowing disorders. Of 188 patients with swallowing complaints who underwent cineradiography, a total of 152 cases were included in the study at follow-up after 4 years. Their symptoms were classified into three groups: (A) a sensation of obstruction during meals, (B) abnormal sensation felt when eating, or (C) a sensation felt when not eating (globus). In group A, 85% (34/40) had roentgenologic pharyngeal abnormalities, compared to 68% (34/50) in group B and 63% (39/62) in group C. Among the various cineradiographic findings, web and cricopharyngeal incoordination were significantly associated with obstructive symptoms. The cineradiographic findings showed good agreement with the results of endoscopic examinations.

Is there an accessory sphincter of the cervical oesophagus?

The transition between the pharynx proper and cervical oesophagus, the pharyngo-oesophageal segment, has received considerable attention. It corresponds roughly to the upper oesophageal sphincter and has specific anatomic and physiological functions pertinent to swallowing, respiration and posture (Bosma, 1957). With the aid of cineradiography or video techniques, it is possible to distinguish several different morphological and functional characteristics and abnormalities within this segment resulting in a more precise knowledge of its nature. Within this region, there are several well defined functional and morphodynamic abnormalities,e.g., Zenker diverticula, Kilian-Jamieson diverticula as well as cricopharyngeal incoordination, to the understanding of which radiology has contributed greatly. The purpose of this report is to describe a new radiological finding, namely, a circumscribed transient circular narrowing within the cervical oesophagus, in patients with dysphagia. A transient narrowing in the cervical oesophagus was seen in seven dysphagic patients, five women and two men, aged 55–74 years. Four of the patients had undergone cricopharyngeal myotomy; in one of these, the myotomy was part of surgical correction of a Zenker diverticulum. One patient had had surgery and radiotherapy for thyroid carcinoma. The radiological observations of the pharyngo-oesophageal segment and cervical oesophagus were compared with studies of 150 non-dysphagic volunteers: 79 men, 71 women, aged 20–82 years (mean, 52 years). These examinations were approved by the Ethical Committee of the University of Lund and Malmö General Hospital on December 13, 1979 (ref. no. 144/79).

Gastric interposition following transhiatal esophagectomy: radiographic evaluation.

Gastric interposition was achieved in 138 patients following transhiatal esophagectomy without thoracotomy. Among these, 33 had benign and 105 malignant lesions. All patients were evaluated on the 10th postoperative day with a barium swallow examination. However, if an anastomotic leak was suspected clinically before this time, a water-soluble contrast study was initially obtained. Early postoperative complications included anastomotic leaks (15), cricopharyngeal incoordination with aspiration (6), and gastric perforation (2). Late postoperative complications included anastomotic strictures (12), pyloric stenosis (4), recurrence of tumor (3), and transhiatal visceral herniation (2). Our technique of postoperative radiographic evaluation, particularly when a leak is suspected clinically, is discussed.

Dysfunction of pharyngeal swallowing. A cineradiographic investigation in 854 dysphagia patients.

Cineradiography of pharyngeal swallowing was performed in 854 patients (389 males and 465 females) with dysphagia and analyzed for pharyngeal function. Epiglottic dysmotility was registered in 206 patients (24%), defective closure of the laryngeal vestibule in 318 patients (37%), paresis in pharyngeal constrictors in 130 patients (15%), dysfunction of the cricopharyngeal muscle in 215 patients (25%), webs in 130 patients (15%), Zenker diverticula in 20 patients (2%) and Killian-Jamieson diverticula in 16 patients (2%). The symptom dysphagia was more frequent among young women compared with young men. Over the age of 65 the relation was reversed. Pharyngeal dysfunction was more common among young men than young women and this was due to a high frequency of dysfunction of the laryngeal vestibule in young men. Epiglottic dysfunction and dysfunction of the laryngeal vestibule, pharyngeal paresis, cricopharyngeal incoordination and webs showed an increased frequency with age, while diverticula did not. Pharyngeal constrictor paresis was more common in men. Defective relaxation of the cricopharyngeal muscle and webs were more common among old women compared with old men.

Pharyngoesophageal dysfunctions. The role of cricopharyngeal myotomy.

Eighteen patients were evaluated for primary symptoms of cervical dysphagia and/or laryngeal aspiration and subsequently had a cricopharyngeal myotomy. Twelve patients had a neurologic lesion as the cause of the symptoms. Four patients had a Zenker's diverticulum as demonstrated by barium contrast roentgenograms. Two patients complained of persistent suprasternal dysphagia following one or more antireflux repairs for gastroesophageal reflux disease. Esophageal manometry identified a pharyngoesophageal motor disorder in all but four patients, two of the four with Zenker's diverticulum and the two who had an antireflux procedure. The results show that cricopharyngeal myotomy should be reserved for patients with an identifiable motor disorder confined to the pharyngeal phase of swallowing, ie, failure of the pharyngeal pump or cricopharyngeal incoordination and/or incomplete relaxation. Exceptions to this rule are as follows: Zenker's diverticulum, in which an abnormality may not always be detected but of which the results of surgery demonstrate the effectiveness of this procedure; and pharyngoesophageal complaints associated with reflux, most of which resolve with the restoration of distal esophageal sphincter competence. In those few patients in whom these conditions persist, a cricopharyngeal myotomy may be beneficial. Caution should be used in applying the procedure to individuals who have had multiple antireflux repairs.

Pharyngeal dysfunction after treatment for pharyngeal cancer with surgery and radiotherapy.

Radiologic examinations of the pharynx were performed in 13 patients presenting with dysphagia following treatment of pharyngeal cancer with excision and radiotherapy. The conventional single-film technique or double-contrast examination was unremarkable, although 2 patients had clinical evidence for local recurrence. The patients were also examined with cineradiography using a film speed of 50 and 100 frames/sec. Various functional abnormalities (pharyngeal paresis, epiglottic dysfunction, dysfunction of the laryngeal vestibule, cricopharyngeal incoordination, and cervical esophageal webs) were found in all but 1 patient. The results indicate that functional abnormalities of the pharynx secondary to radiotherapy and surgery are common in patients who have dysphagia after treatment. These functional pharyngeal disorders are accurately diagnosed with cineradiography.

Cervical oesophageal webs in patients with dysphagia

A series of 250 patients with dysphagia examined by cine-radiography and conventional single film technique revealed oesophageal webs in 38 and 26 patients respectively. In four patients there were two webs. There were eight males and 30 females which corresponds to an incidence of 8 and 20%, respectively (mean 15%), in patients referred for X-ray examination of the hypopharynx or oesophagus. Concomitant functional abnormalities in the act of swallowing were seen in 25 patients, i.e. pharyngeal constrictor muscle paresis of varying degree, cricopharyngeal incoordination, misdirected swallowing, epiglottic dysfunction and Zenker diverticulum. In five patients there was a malignant lesion as well, i.e. in the larynx, oesophagus, pharynx or stomach. With the aid of cine-radiography it is possible to show the presence of webs in a significantly higher proportion of patients with dysphagia compared with the conventional spot film technique. With cine-radiography it is also possible to demonstrate concomitant functional abnormalities which are frequently present in these patients.

Cricopharyngeal myotomy as a method of treating cricopharyngeal dysphagia secondary to gastroesophageal reflux

Food obstruction at the cricopharyngeal level is a common symptom of gastroesophageal reflux. In selected patients, cricopharyngeal myotomy is effective in relief of symptoms. We have used myotomy in patients whose only symptom was dysphagia, in patients too debilitated for major surgery, and in patients with persistent pharyngoesophageal dysphagia following hiatal hernia repair. All were studied by barium esophagogram, endoscopy, and manometry. Radiologic aspiration of barium was apparent in five of 19 patients. High-speed manometric tracings showed intermittent cricopharyngeal incoordination in the six consecutive patients most recently studied. This finding of incoordination has been shown to be present in 38 patients with reflux and in all with major cricopharyngeal symptoms. Myotomy was effective in relieving symptoms in patients in whom this was the only reflux symptom and in the five patients too debilitated for major surgery. Good symptomatic improvement was obtained in nine of the 12 with persistent dysphagia following hernia repair, but in three relief was partial, with persistent symptoms being secondary to distal esophageal obstruction. Investigation is necessary to exclude other causes of dysphagia. However, withcareful selection, myotomy has proved to be an effective method of treatment.

Pharyngoesophageal dysphagia and gastroesophageal reflux.

Pharyngoesophageal dysphagia occurred in 51.3 percent of 1,000 consecutive patients with gastroesophageal reflux. Aspiration, secondary to food obstruction, occurred in 30 percent of these patients, and some developed significant secondary respiratory symptoms. The site of obstruction was localized to the cricopharyngeus by timing the interval from swallow to obstruction. Cricopharyngeal incoordination was demonstrated in 20 of 52 patients studied by high speed esophageal manometry. Surgical correction of gastroesophageal reflux in patients with intractable reflux symptoms was shown to be effective in relieving pharyngoesophageal dysphagia in all but a small number of patients with very severe symptoms. In those with persistent dysphagia cricopharyngeal myotomy at a later stage was effective in giving relief.