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 Achalasia Definition
Achalasia is a disorder of the esophagus that prevents normal swallowing.
Achalasia affects the esophagus, the tube that carries swallowed food from the back of the throat down into the stomach. , a rare finding in children. The infant responded to balloon dilation of the upper esophageal sphincter The upper esophageal sphincter (UES) refers to the superior portion of the esophagus.
Unlike the lower esophageal sphincter, it is comprised of striated muscle and is under conscious control. , 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
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 hypertrophic pyloric stenosis
Muscular hypertrophy of the pyloric sphincter associated with projectile vomiting appearing two to three weeks after birth. Also called congenital 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.
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 emesis /em·e·sis/ (em´e-sis) vomiting.
n. pl. em·e·ses
The act or process of vomiting.
The medical term for vomiting. . Symptoms were equally provoked by liquids and semisolid sem·i·sol·id
Intermediate in properties, especially in rigidity, between solids and liquids.
A semisolid substance, such as a stiff dough or firm gelatin.
Adj. 1. 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 Reactive Airway Disease (RADS) is a term proposed by S.M. Brooks and colleagues in 1985  to describe an asthma-like syndrome developing after a single exposure to high levels of an irritating vapor, fume, or smoke. 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 auscultation
Procedure for detecting certain defects or conditions by listening for normal and abnormal heart, breath, bowel, fetal, and other sounds in the body. The invention of the stethoscope in 1819 improved and expanded this practice, still very useful despite the . 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 white blood cell count,
n a diagnostic clinical laboratory test to determine the number and types of leukocytes present in a measured sample of blood. Overall the normal number of leukocytes ranges from 5000 to 10,000/mm3. and platelets; however, a hypochromic, microcytic anemia was present (hemoglobin = 10.3 g/dL, hematocrit = 30.3%, mean corpuscular volume mean corpuscular volume
n. Abbr. MCV
The average volume of red blood cells in erythrocyte indices, calculated from the hematocrit and the red blood cell count. = 67.7 fl).
The patient was admitted, given nothing by mouth, and total parenteral nutrition Total Parenteral Nutrition Definition
Total parenteral nutrition (TPN) is a way of supplying all the nutritional needs of the body by bypassing the digestive system and dripping nutrient solution directly into a vein. was started through a percutaneous intracardiac catheter. An upper gastrointestinal series Upper GI series, also upper gastrointestinal (GI) tract radiography, is a radiologic examination of the upper gastrointestinal tract. It consists of a series of X-ray images of the esophagus, stomach and duodenum. was performed, showing tracheal penetration (Fig. 1), nasopharyngeal nasopharyngeal
pertaining to the nasal and pharyngeal cavities.
see nasopharyngeal meatus.
see reverse sneeze. 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 magnetic resonance imaging (MRI), noninvasive diagnostic technique that uses nuclear magnetic resonance to produce cross-sectional images of organs and other internal body structures. 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 Fluoroscopic (fluoroscopy)
An x-ray procedure that produces immediate images and motion on a screen. The images look like those seen at airport baggage security stations.
Mentioned in: Hypotonic Duodenography 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.
Cricopharyngeal achalasia is a disorder of the UES characterized by dysphagia, weight loss, cough, aspiration, and regurgitation regurgitation /re·gur·gi·ta·tion/ (re-ger?ji-ta´shun)
1. flow in the opposite direction from normal.
2. vomiting. 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 pediatric /pe·di·at·ric/ (pe?de-at´rik) pertaining to the health of children.
Of or relating to pediatrics. 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 oropharyngeal /oro·pha·ryn·ge·al/ (-fah-rin´je-al)
1. pertaining to the mouth and pharynx.
2. pertaining to the oropharynx. dysfunction. Radiographic radiographic (rā´dēōgraf´ik),
adj relating to the process of radiography, the finished product, or its use. 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 lower esophageal sphincter
A ring of smooth muscle fibers at the junction of the esophagus and stomach. Also called cardiac 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 di·stend
To swell out or expand or cause to swell out or expand from or as if from internal pressure. during swallowing. (12) Upper endoscopy typically shows a narrowed UES, which may preclude passage of the endoscope.
[FIGURE 1 OMITTED]
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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)
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.
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3. Reichert TJ, Bluestone bluestone, common name for the blue, crystalline heptahydrate of cupric sulfate called chalcanthite, a minor ore of copper. It also refers to a fine-grained, light to dark colored blue-gray sandstone. CD, Stool SE, et al. Congenital cricopharyngeal achalasia. Ann Otol 1977;86:603-610.
4. Lernau OZ, Sherzer E, Mogle P, et al. Congenital cricopharyngeal achalasia treatment by dilations. J Pediatr Surg 1984;19:202-203.
5. Pollack IF, Pang D, Kocoshis S, et al. Neurogenic neurogenic /neu·ro·gen·ic/ (-jen´ik)
1. forming nervous tissue.
2. originating in the nervous system or from a lesion in the nervous system. dysphagia resulting from Chiari malformations: experimental and clinical study. Neurosurgery 1992;30:709-719.
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8. Weitz R, Varsano I, Geifman M, et al. Cricopharyngeal achalasia associated with congenital suprabulbar paresis paresis /pa·re·sis/ (pah-re´sis) slight or incomplete paralysis.
general paresis paralytic dementia; a form of neurosyphilis in which chronic meningoencephalitis causes gradual loss of cortical . 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 Polymyositis Definition
Polymyositis is an inflammatory muscle disease causing weakness and pain. Dermatomyositis is identical to polymyositis with the addition of a characteristic skin rash. . Arthritis Rheum rheum (rldbomacm) any watery or catarrhal discharge.
A watery or thin mucous discharge from the eyes or nose.
any watery or catarrhal discharge. 1980;23:491-495.
10. Kagen LJ, Hochman RB, Strong EW. Cricopharyngeal obstruction in inflammatory myopathy myopathy /my·op·a·thy/ (mi-op´ah-the) any disease of muscle.myopath´ic
centronuclear myopathy myotubular m. (polymyositis/dermatomyositis): report of three cases and review of the literature. Arthritis Rheum 1985;28:630-636.
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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 pharyngeal /pha·ryn·ge·al/ (fah-rin´je-al) pertaining to the pharynx.
pha·ryn·geal or pha·ryn·gal
Of, relating to, located in, or coming from the pharynx. 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 University of Mississippi Medical Center (UMC) is the health sciences campus of the University of Mississippi (Ole Miss). Located in Jackson, Mississippi (USA), it houses the Schools of Medicine, Dentistry, Nursing, Health Related Professions, and Graduate Studies in the Health , 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: firstname.lastname@example.org