Cricopharyngeal achalasia responsive to balloon dilation in an infant.

Abstract: This report describes an infant with vomiting and significant weight loss attributable to cricopharyngeal achalasia, a rare finding in children. The infant responded to balloon dilation of the upper esophageal sphincter, with resolution of symptoms and return to presymptomatic growth parameters. A brief description of the clinical features, diagnostic evaluation, and treatment options for cricopharyngeal achalasia is included.

Key Words: cricopharyngeal achalasia, esophageal dilation, weight loss

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Vomiting is a common symptom in infants and children, often signifying an acute self-limiting illness. However, persistent vomiting, particularly with weight loss, often portends significant pathology. Potential causes include diseases of the central nervous system, kidneys, and gastrointestinal system, as well as metabolic disorders. Partial obstruction of the gastrointestinal tract, such as that seen with hypertrophic pyloric stenosis and malrotation, is a frequent cause of persistent vomiting. A rare cause of persistent vomiting in infants and children is cricopharyngeal achalasia. We describe an infant with cricopharyngeal achalasia who had resolution of symptoms after balloon dilation of the hypertensive upper esophageal sphincter. The evaluation and treatment of cricopharyngeal achalasia is reviewed.

Case Report

A 10-month-old female presented to the hospital with a 4-month history of feeding difficulties and weight loss. By maternal history, the infant fed vigorously; however, choking, coughing, and vomiting, often with nasal reflux, followed each feed. There was no blood or bile in the emesis. Symptoms were equally provoked by liquids and semisolid baby food. Over the duration of the symptoms the child lost 15% of her body weight, from 10 to 8.5 kg. A history of caustic ingestion, gastroesophageal reflux, or known foreign body ingestion could not be elicited. Medical history was significant for reactive airway disease that was treated with [beta]-agonist nebulizations; there was no history of pneumonia.

Physical examination was significant for an active, thin female with marked decrease in subcutaneous tissue but no signs of dehydration. The lungs were clear to auscultation. No cardiac murmur was appreciated. Abdominal examination revealed no organomegaly and rectal examination was negative for occult blood.

Admission laboratory studies were significant for normal serum electrolytes and renal panel. A complete blood count showed normal white blood cell count and platelets; however, a hypochromic, microcytic anemia was present (hemoglobin = 10.3 g/dL, hematocrit = 30.3%, mean corpuscular volume = 67.7 fl).

The patient was admitted, given nothing by mouth, and total parenteral nutrition was started through a percutaneous intracardiac catheter. An upper gastrointestinal series was performed, showing tracheal penetration (Fig. 1), nasopharyngeal reflux, and a cricopharyngeal bar (Fig. 2). Further evaluation included computed tomography of the neck that showed narrowing of the esophagus without extrinsic mass; magnetic resonance imaging study of the head showed no structural abnormalities.

The presence of a cricopharyngeal bar associated with tracheal aspiration necessitated measures to prevent against pneumonia. An upper endoscopy was undertaken with an Olympus neonatal scope (GIF-N30, Olympus America, Inc., Melville, NY; outside diameter of 5.8 mm); however, the endoscope could not be passed through the upper esophageal sphincter (UES). Under visual guidance, a guide wire was advanced through the UES. The endoscope was removed, followed by dilation with a 4-mm over-the-wire balloon under fluoroscopic visualization. Immediately after dilation, a nasogastric tube was placed. The infant was given nothing by mouth to avoid any potential for direct tracheal aspiration and was nutritionally repleated over a period of 2 weeks by bolus feeds with PediaSure (Abbott Laboratories Inc., Columbus, OH) by nasogastric tube. Repeat balloon dilation was performed to 10 mm, after which the infant was able to tolerate full oral feeds without need for further dilation. She has attained her previous weight percentile, maintaining normal growth without any feeding difficulties for a follow-up period of 1 year.

Discussion

Cricopharyngeal achalasia is a disorder of the UES characterized by dysphagia, weight loss, cough, aspiration, and regurgitation resulting from a functional narrowing at the level of the UES. This is a rare entity, occurring primarily in elderly individuals; fewer than 50 pediatric cases have been reported. (1) Symptoms in children may begin immediately after birth or may appear later in life. Symptoms are similar to those described for adults, including respiratory distress, choking, cough, recurrent pneumonia, poor weight gain or weight loss, dysphagia, odynophagia, and vomiting with nasal reflux. (2-4) In children, cricopharyngeal achalasia is usually an isolated finding; however, it has been associated with Arnold-Chiari malformation, meningomyelocele, mental retardation, cerebral palsy, congenital suprabulbar palsy, and mitochondrial DNA deletions. (2,5-8) Cricopharyngeal achalasia has been associated with inflammatory muscle disease in adults (9,10); this association has not been described in children, possibly because of the relative infrequency of inflammatory muscle disease in children. Diagnosis of cricopharyngeal achalasia requires the exclusion of secondary causes of oropharyngeal dysfunction. Radiographic features seen during barium swallow include nasopharyngeal reflux, tracheal aspiration, narrowing or complete obstruction at the level of the UES, and a posterior "bar." (1,6,7,11) Esophageal manometry often reveals the presence of a hypertensive UES (3,5,7,10); however, in contrast to achalasia of the lower esophageal sphincter, cricopharyngeal achalasia may be present despite normal resting pressure of the UES. (12) In a small study, Dantas et al (12) showed that there was no difference in the UES resting pressure among individuals with cricopharyngeal bars and normal control subjects. The major differences between the two groups were reduced maximal dimension of the UES during swallowing and increased intrabolus pressure proximal to the UES. (12) These data suggest that the primary pathogenesis of cricopharyngeal bars is reduced muscle compliance, limiting the ability of the relaxed cricopharyngeus to normally distend during swallowing. (12) Upper endoscopy typically shows a narrowed UES, which may preclude passage of the endoscope.

[FIGURE 1 OMITTED]

[FIGURE 2 OMITTED]

Treatment is directed by the severity of symptoms. Injection with botulinum toxin has been beneficial as a temporizing treatment in adults with cricopharyngeal achalasia, as well as serving as a diagnostic test. (13) In a small study, percutaneous injection of botulinum toxin into the cricopharyngeus muscle resulted in improvement of swallowing in all treated patients. The authors suggested that patients who responded to an injection of botulinum toxin could receive repeated injections or myotomy should symptoms recur. However, if no clinical response was noted after botulinum toxin injection, then myotomy would not be indicated, the rationale being that relief of the hypertensive cricopharyngeus muscle with botulinum toxin should result in improved swallowing; if injection was not followed by clinical improvement, the swallowing dysfunction was not due solely to achalasia. In such cases, surgery would not be addressing the complete problem. Dilation by bouginage has been shown effective for the relief of symptoms associated with cricopharyngeal achalasia, even in children. (4) Development of balloon dilation has maintained effectiveness while improving safety, often requiring a single treatment. (14) In a small adult study, the maximum balloon size required for symptomatic relief was 20 mm; in our patient, excellent results were accomplished with dilation to 10 mm. In severe or recurrent achalasia, surgical intervention is warranted; myotomy of the UES is typically used. (15,16) Patients tend to have dramatic and complete, long-term symptomatic relief after myotomy. (16)

Conclusion

It is important to keep cricopharyngeal achalasia as part of the differential diagnosis of the infant or child with persistent vomiting; particularly those associated with respiratory problems or weight loss. Although uncommon, it does occur in the pediatric patient and is readily documented with a barium swallow. Treatment should be tailored to the patient and less invasive methods should be used, as they may lead to avoidance of a surgical procedure.

The truth is more important than the facts.
--Frank Lloyd Wright

Accepted October 5, 2004.

References

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4. Lernau OZ, Sherzer E, Mogle P, et al. Congenital cricopharyngeal achalasia treatment by dilations. J Pediatr Surg 1984;19:202-203.

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7. Kornblum C, Broicher R, Walther E, et al. Cricopharyngeal achalasia is a common cause of dysphagia in patients with mtDNA deletions. Neurology 2001;56:1409-1412.

8. Weitz R, Varsano I, Geifman M, et al. Cricopharyngeal achalasia associated with congenital suprabulbar paresis. Helv Paediat Acta 1976;311:271-274.

9. Dietz F, Logeman JA, Sahgal V, et al. Cricopharyngeal muscle dysfunction in the differential diagnosis of dysphagia in polymyositis. Arthritis Rheum 1980;23:491-495.

10. Kagen LJ, Hochman RB, Strong EW. Cricopharyngeal obstruction in inflammatory myopathy (polymyositis/dermatomyositis): report of three cases and review of the literature. Arthritis Rheum 1985;28:630-636.

11. Skinner MA, Shorter NA. Primary neonatal cricopharyngeal achalasia: a case report and review of the literature. J Pediatr Surg 1992;27:1509-1511.

12. Dantas RO, Cook IJ, Dodds WJ, et al. Biomechanics of cricopharyngeal bars. Gastroenterology 1990;99:1269-1274.

13. Blitzer A, Brin MF. Use of botulinum toxin for diagnosis and management of cricopharyngeal achalasia. Otolaryngol Head Neck Surg 1997;116:328-330.

14. Solt J, Bajor J, Moizs M, et al. Primary cricopharyngeal dysfunction: treatment with balloon catheter dilatation. Gastrointest Endosc 2001;54:767-771.

15. Muraji T, Takamizawa S, Satoh S, et al. Congenital cricopharyngeal achalasia: diagnosis and surgical management. J Pediatr Surg 2002;37:E12-E14.

16. Brooks A, Millar AJW, Rode H. The surgical management of cricopharyngeal achalasia in children. Int J Pediatr Otolaryngol 2000;56:1-7.

RELATED ARTICLE: Key Points

* Cricopharyngeal achalasia is rare in children and may be associated with serious underlying disorders of the central nervous system.

* The presence of a posterior pharyngeal bar is highly suggestive of cricopharyngeal achalasia, but other causes of oropharyngeal dysfunction must be excluded.

* Treatment should be tailored to the patient's disease severity; options include injection with Botulinum toxin, balloon dilation, and myotomy.

Dereck Davis, MD, Michael Nowicki, MD, and Henry Giles, MD

From the Department of Pediatrics, Division of Pediatric Gastroenterology, and Department of Radiology, University of Mississippi Medical Center, Jackson, MS.

Reprint requests to Dr. Michael J. Nowicki, Division of Pediatric Gastroenterology, University of Mississippi Medical Center, 2500 North State St., Jackson, MS 39216. Email: [e-mail]