History

Fact Explanation
Dysphagia [1] Liquids are more difficult to swallow than the solids. Some patients may have dysphagia for both. This is due to the poor relaxation of the lower esophageal sphincter and aperistalsis. [1]
Recurrent vomiting or regurgitation of undigested food [1] The dilated segment of the esophagus and the poor relaxation of the lower esophageal sphincter tend to store swallowed food. This results in recurrent vomiting and regurgitation.
Failure to thrive [1] Recurrent vomiting, and respiratory tract infections cause failure to thrive.
Chronic cough [1,6] Due to recurrent aspiration of regurgitated food particles. The trachea is compressed by the dilated esophagus. This also may contribute to recurrent cough. [2]
Chest pain [10] Chest pain is localized to the sub-sternal area. Pain may be burning type. [7] Chest pain may mimic an ischemic chest pain (severe tightening type of chest pain over the retrosternal area) and it is due to the compression of the left atrium from the dilated esophagus. [9]
Choking [4] Food particles accumulate in the dilated part of the esophagus. When the child lies supine the food particles enter the trachea and results in chocking.
Recurrent pulmonary infections [4] Aspiration of the food particles to the respiratory tract causes recurrent aspiration pneumonia.
Wheezing [5,8] May be due to the recurrent respiratory tract infections.
Hoarseness of the voice Dilated esophagus compresses recurrent laryngeal nerve. [3]
References
  1. NIGHAT F. M., MILES M. W., MUTASIM N. A. Achalasia: unusual cause of chronic cough in children. Cough [online] 2008, 4:6 [viewed 30 March 2014] Available from: doi:10.1186/1745-9974-4-6
  2. COLOMBO J. L., HALLBERG T.K. Recurrent aspiration in children: lipid-laden alveolar macrophage quantitation. Pediatr Pulmonol [online] 1987, 3(2):86-89. [viewed 30 March 2014] Available from: DOI: 10.1002/ppul.1950030209
  3. CHAPMAN S., WELLER P. H., CAMPBELL C. A., Buick R. G. Tracheal compression caused by achalasia. Pediatr Pulmonol [online] 1989, 7(1):49-51. [viewed 30 March 2014] Available from: DOI: 10.1002/ppul.1950070111
  4. KUGELMAN A., BERKOWITZ D., BEST L. A., BENTUR L. Upper airway obstruction as a presenting sign of achalasia in childhood. Acta Paediatr [online] 2000, 89(3):356-358. [viewed 30 March 2014] Available from: DOI: 10.1111/j.1651-2227.2000.tb01338.x
  5. GIVAN D. C., SCOTT P. H., EIGEN H., GROSFELD J. L., CLARK J. H. Achalasia and tracheal obstruction in a child. Eur J Respir Dis [online] 1985, 66(1):70-73 [viewed 30 March 2014]
  6. ROBINSON G. V., KANJI H., DAVIES R. J., GLEESON F. V. Selective pulmonary fat aspiration complicating oesophageal achalasia. Thorax [online] 59(2):180. [viewed 30 March 2014] Available from: http://www.coughjournal.com/pubmed/14760168
  7. MICHAEL F. V., JOHN E. P., MARCELO F. V. Clinical Guideline: Diagnosis and Management of Achalasia. Am J Gastroenterol [online] 23 July 2013. [viewed 30 March 2014] Available from: doi: 10.1038/ajg.2013.196
  8. VAEZI M. F., RICHTER J. E. Diagnosis and management of achalasia. American College of Gastroenterology Practice Parameter Committee . Am J Gastro enterol [online] 1999 ; 94 : 3406 – 3412 . [viewed 30 March 2014] Available from: doi:10.1111/j.1572-0241.1999.01639.x
  9. HANCHEOL L., SEUNG H.L., NAMSIK C. A Case of Esophageal Achalasia Compressing Left Atrium Diagnosed by Echocardiography in Patient with Acute Chest Pain. J Cardiovasc Ultrasound. [online] Dec 2012: 20(4): 218-219. [viewed 30 March 2014] Available from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3542520/
  10. ECKARDT V. F., STAUF B, BERNHARD G. Chest pain in achalasia: patient characteristics and clinical course. Gastroenterology. [online] 1999 Jun;116(6):1300-4. [viewed 30 March 2014] Available from: http://www.ncbi.nlm.nih.gov/pubmed/10348812

Examination

Fact Explanation
Loss of weight and wasting [2] This is due to poor nutrition and recurrent respiratory tract infections.
Clinical signs of pneumonia If the patient has developed aspiration pneumonia fever and lung signs of pneumonia (reduced chest expansion, dullness to percussion, increased vocal fremitus, reduced air entry and bronchial breathing over the affected segment of the chest)
Pulmonary atelectasis [1] Aspirated food particles obstruct the airways and causes collapse of the lung segments.
References
  1. KUGELMAN A, BERKOWITZ D, BEST LA, BENTUR L: Upper airway obstruction as a presenting sign of achalasia in childhood. Acta Paediatr [online] 2000, 89(3):356-358. [viewed 30 March 2014] Available from: DOI: 10.1111/j.1651-2227.2000.tb01338.x
  2. NIGHAT F. M., MILES M. W., MUTASIM N. A. Achalasia: unusual cause of chronic cough in children. Cough [online] 2008, 4:6 [viewed 30 March 2014] Available from: doi:10.1186/1745-9974-4-6

Differential Diagnoses

Fact Explanation
Triple-A syndrome Triple-A syndrome is characterized by achalasia, alacrimia and glucocorticoid deficiency. Patients have recurrent hypoglycemic episodes, skin pigmentation and deficient tear production. [8]
Gastro-esophageal reflux disease (GERD) [2] GERD should be suspected in patients who are symptomatic even with adequate treatment with proton pump inhibitors. [2]
Pseudoachalasia [3] Esophagogastroduodenoscopy will help in differentiating the two conditions. [2]
Tumors in the gastric cardia [3] Both results in dysphagia. But malignant tumors in the gastric cardia will produce significant early loss of appetite. [9]
Secondary achalasia In patients with a history of fundoplication or laparoscopic gastric banding secondary achalasia should be suspected. [3,4]
Chagas disease This results due to infection from Trypanosoma cruzi. Patients may also have features of infection in other myenteric plexeses as well. (megacolon and neurologic disorders.) [5]
Parkinson's disease [1] Both results in dysphagia for both solids and liquids.
Progressive cerebellar ataxia [1] Both results in dysphagia. Examination will reveal signs of cerebellar involvement. (Nystagmus, pendular knee jerks, dysmetria etc.) [7]
References
  1. MYERS NA, JOLLEY SG, TAYLOR R: Achalasia of the cardia in children: a worldwide survey. J Pediatr Surg [online] 1994, 29(10):1375-1379. [viewed 30 March 2014] Available from: http://www.jpedsurg.org/article/0022-3468(94)90119-8/abstract
  2. MICHAEL F. V., JOHN E. P., MARCELO F. V. Clinical Guideline: Diagnosis and Management of Achalasia. Am J Gastroenterol [online] 23 July 2013. [viewed 30 March 2014] Available from: doi: 10.1038/ajg.2013.196
  3. TUCKER H. J., SNAPE W. J. J. R., COHEN S. Achalasia secondary to carcinoma: manometric and clinical features . Ann Intern Med. [online] 1978;89(3):315-318. [viewed 30 March 2014] Available from: doi:10.7326/0003-4819-89-3-315
  4. ROZMAN RW J. R., ACHKAR E . Features distinguishing secondary achalasia from primary achalasia . Am J Gastroenterol [online] 1990 ; 85 : 1327 – 1330. . [viewed 30 March 2014]
  5. DE OLIVEIRA R. B, REZENDE F. J., DANTAS R. O. et al. The spectrum of esophageal motor disorders in Chagas ’ disease . Am J Gastroenterol [online] 1995: 93, 884-889 doi:10.1111/j.1572-0241.1998.270_r.x
  6. NICK M., EMMA N., DIANA J., DAVID B. Hard to swallow: dysphagia in Parkinson’s disease Age Ageing [online] November 2006: 35(6): 614-618. . [viewed 30 March 2014] Available from: doi: 10.1093/ageing/afl105
  7. PERLMAN SL. Cerebellar Ataxia. Curr Treat Options Neurol. [online] 2000 May;2(3):215-224. [viewed 30 March 2014] Available from: http://www.ncbi.nlm.nih.gov/pubmed/11096749
  8. SHIVANANDA, PREMALATHA R, RAHEELA, GAYATHRI P. Triple-A Syndrome. Indian Pediatrics [online] 1998;35:1131-1135. [viewed 30 March 2014] Available from: http://www.indianpediatrics.net/nov1998/nov-1131-1135.htm
  9. VERSCHUUR EM, REPICI A, KUIPERS EJ, STEYERBERG EW, SIERSEMA PD. New design esophageal stents for the palliation of dysphagia from esophageal or gastric cardia cancer: a randomized trial. Am J Gastroenterol. [online] 2008 Feb;103(2):304-12. [viewed 30 March 2014] Available from: http://www.ncbi.nlm.nih.gov/pubmed/17900325

Investigations - for Diagnosis

Fact Explanation
Esophageal manometry This is the gold standard in diagnosing achalasia. Esophageal manometry is helpful in detecting aperistalsis and failed relaxation of the lower esophageal sphincter. [1] Increased resting esophageal body pressure and simultaneous non-propagating esophageal contractions are in favor of achalasia. [6]
Barium swallow study [1] Marked dilatation of the esophagus is visible. Air bubbles and food particles are visible in the dilated part. The distal part of the esophagus is markedly narrowed. The radiological sign is referred to “bird’s beak”. The contrast is poorly emptied from the esophagus to the stomach in most cases. [1,5] However the sensitivity of this investigation is comparatively less. [2] Dilated, tortuous esophagus and esophageal angulation are late findings. [5]
Computer Tomography (CT) of chest This shows dilated esophagus, food particles and thickening of the esophagus. [3] Lung collapse can also be detected if present. CT scan is also able to detect malignant changes and lung secondary if present. [4]
Esophagogastroduodenoscopy Retained saliva, food particles, dilated upper esophageal segment and narrowed distal part of the esophagus are suggestive of achalasia. This also helps in excluding the possibility of a mechanical obstruction of the esophageal lumen. (benign or malignant mass or stricture.) [5,7]
Endoscopic ultrasound Helps in excluding malignancy. [5]
Bronchoscopy [1] Pressure effects of dilated esophagus compresses the trachea. Bronchoscopy can detect this. However this is not routinely used in the diagnosis of achalasia.
References
  1. NIGHAT F. M., MILES M. W., MUTASIM N. A. Achalasia: unusual cause of chronic cough in children. Cough [online] 2008, 4:6 [viewed 30 March 2014] Available from: doi:10.1186/1745-9974-4-6
  2. RABUSHKA LS, FISHMAN EK, KUHLMAN JE: CT evaluation of achalasia. J Comput Assist Tomogr [online] 1991, 15(3):434-439. [viewed 30 March 2014] Available from: http://www.ncbi.nlm.nih.gov/pubmed/2026805?dopt=Abstract&holding=f1000,f1000m,isrctn
  3. CARTER M, DECKMANN RC, SMITH RC, BURRELL MI, TRAUBE M: Differentiation of achalasia from pseudoachalasia by computed tomography. Am J Gastroenterol [online] 1997, 92(4):624-628 [viewed 30 March 2014] Available from: http://www.ncbi.nlm.nih.gov/pubmed/9128311?dopt=Abstract&holding=f1000,f1000m,isrctn
  4. SMITH H. C. "Cough and aspiration of food and liquids due to oral pharyngeal Dysphagia". Lung [online] 2008, 186(Suppl 1):S35-40. [viewed 30 March 2014] Available from: http://www.coughjournal.com/pubmed/18196338
  5. MICHAEL F. V., JOHN E. P., MARCELO F. V. Clinical Guideline: Diagnosis and Management of Achalasia. Am J Gastroenterol [online] 23 July 2013. [viewed 30 March 2014] Available from: doi: 10.1038/ajg.2013.196
  6. SPECHLER S. J., CASTELL D. O. Classification of oesophageal motility abnormalities . Gut [online] 2001;49:1 145-151 [viewed 30 March 2014] Available from: doi:10.1136/gut.49.1.145
  7. SANDLER R. S., BOZYMSKI E. M., ORLANDO R. C. Failure of clinical criteria to distinguish between primary achalasia and achalasia secondary to tumor . Dig Dis Sci [online] 1982 ; 27 : 209 – 13. [viewed 30 March 2014]

Investigations - Fitness for Management

Fact Explanation
Hemoglobin levels Detects anemia secondary to poor nutrition.
Chest X- ray Detects pulmonary infection. [1]
CT scan of the chest Detects pulmonary infection. [1] CT scan is superior than the chest X-ray.
References
  1. NIGHAT F. M., MILES M. W., MUTASIM N. A. Achalasia: unusual cause of chronic cough in children. Cough [online] 2008, 4:6 [viewed 30 March 2014] Available from: doi:10.1186/1745-9974-4-6

Investigations - Followup

Fact Explanation
Esophagogastroduodenoscopy [2] Evaluates the success of treatment. This also helps in detection of squamous cell carcinoma and adenocarcinoma of the esophagus which are known complications of achalasia. (Squamous cell carcinoma is more common than adenocarcinoma) [6] Achalasia is a chronic disease and needs lifelong follow up, preferably once in every three years. [1]
Esophageal manometry Measures post treatment lower esophageal sphincter pressure. Lower the lower esophageal sphincter pressure after the pressure lesser the risk of recurrence. [3]
Barium swallow study Detects progressive dilatation of the esophagus and aids in deciding the treatment. [4,5]
References
  1. MICHAEL F. V., JOHN E. P., MARCELO F. V. Clinical Guideline: Diagnosis and Management of Achalasia. Am J Gastroenterol [online] 23 July 2013. [viewed 30 March 2014] Available from: doi: 10.1038/ajg.2013.196
  2. VAEZI M. F., RICHTER J. E. Diagnosis and management of achalasia. American College of Gastroenterology Practice Parameter Committee . Am J Gastro enterol [online] 1999 ; 94 : 3406 – 3412 . [viewed 30 March 2014] Available from: doi:10.1111/j.1572-0241.1999.01639.x
  3. ECKARDT VF , AIGNHERR C , BERNHARD G . Predictors of outcome in patients with achalasia treated by pneumatic dilation . Gastroenterology [online] 1992 ; 103 1732 – 8 . [viewed 30 March 2014] Available from: http://www.gastrojournal.org/article/0016-5085(92)91428-7/abstract
  4. PETERS JH , KAUER WK , CROOKES PF et al. Esophageal resection with colon interposition for end-stage achalasia . Arch Surg. [online] 1995;130(6):632-637. [viewed 30 March 2014] Available from: doi:10.1001/archsurg.1995.01430060070013
  5. ORRINGER MB , STIRLING MC . Esophageal resection for achalasia: indications and results . Ann Th orac Surg [online] 1989 ; 47(3): 340 – 5. [viewed 30 March 2014] Available from: http://www.annalsthoracicsurgery.org/article/0003-4975(89)90369-X/abstract
  6. LEEUWENBURGH I, SCHOLTEN P, ALDERLIESTEN J et al. Long-term esophageal cancer risk in patients with primary achalasia: a prospective study Am J Gastroenterol [online] 2010 ; 105 : 2144 – 9. [viewed 30 March 2014] Available from: doi:10.1038/ajg.2010.263

Investigations - Screening/Staging

Fact Explanation
Barium swallow study Detects the diameter of the dilated esophagus and helps grading the severity of the achalasia. [1] Diameter more than 6cm is indicative of severe achalasia.
References
  1. MICHAEL F. V., JOHN E. P., MARCELO F. V. Clinical Guideline: Diagnosis and Management of Achalasia. Am J Gastroenterol [online] 23 July 2013. [viewed 30 March 2014] Available from: doi: 10.1038/ajg.2013.196

Management - General Measures

Fact Explanation
Nutritional support If the child is severely wasted optimization of the nutrition plays an important role in the management. [1]
Treatment of respiratory tract infections Due to the recurrent aspiration, patients are more susceptible to develop aspiration pneumonia. This should be treated prior to the surgery. [1]
References
  1. NIGHAT F. M., MILES M. W., MUTASIM N. A. Achalasia: unusual cause of chronic cough in children. Cough [online] 2008, 4:6 [viewed 30 March 2014] Available from: doi:10.1186/1745-9974-4-6

Management - Specific Treatments

Fact Explanation
Calcium channel blockers (CCB) Reduces the esophageal smooth muscle spasm and relaxes the lower esophageal sphincter. [1] Nifedipine is the commonly used CCB.
Long acting nitrates The action is similar to CCBs. CCB and Long acting nitrates are the most commonly used pharmacological treatment options. [1]
Phosphodiesterase-5-inhibitors [1] The mechanism of action is similar to the above drugs. Sildenafil is the commonly used drug. [2]
Anticholinergics [1] Atropine, dicyclomine and cimetropium bromide are commonly used drugs. These drugs reduces the lower esophageal sphincter tone.
β -adrenergic agonists [1] Terbutaline is the commonly used drug of this group. The final action is the reduction of the lower esophageal sphincter tone. Pharmacological management is less successful than the other modalities of treatment.
Botulinum toxin (Botox) Botox is injected to the site of the lesion via endoscopy. [1] Botox inhibits the release of acetylcholine neurotransmitter at the presynaptic ending and prevents the propagation of the nerve impulse. [3]
Pneumatic dilation (balloon dilation) This is better than the pharmacological management options. [4] Air dilates the lower esophagus and damages the circular muscle fibers of the lower esophageal sphincter. [1]
Surgical myotomy Circular muscle fibers of the lower esophageal sphincter is surgically divided. Laparoscopic treatment is preferred over the open surgical access. [1] Heller myotomy is the commonly used option.
Esophagectomy In the presence of severe esophageal dilation and tortuosity (megaesophagus or sigmoid esophagus) are eligible for this treatment option. [5]
References
  1. MICHAEL F. V., JOHN E. P., MARCELO F. V. Clinical Guideline: Diagnosis and Management of Achalasia. Am J Gastroenterol [online] 23 July 2013. [viewed 30 March 2014] Available from: doi: 10.1038/ajg.2013.196
  2. BORTOLOTTI M., MARI C., LOPILATO C. et al. Effects of sildenafil on esophageal motility of patients with idiopathic achalasia . Gastroenterology [online] 2000 ; 118 : 253 – 7 . [viewed 30 March 2014] Available from: http://www.gastrojournal.org/article/S0016-5085(00)70206-X/abstract
  3. PASRICHA PJ , RAVICH WJ , HENDRIX TR et al. Intrasphincteric botulinum toxin for the treatment of achalasia . N Engl J Med [online] 1995 ; 332 : 774 – 8 . [viewed 30 March 2014] Available from: www.nejm.org/doi/pdf/10.1056/NEJM199503233321203
  4. VAEZI M. F., RICHTER J. E. Diagnosis and management of achalasia. American College of Gastroenterology Practice Parameter Committee . Am J Gastro enterol [online] 1999 ; 94 : 3406 – 3412 . [viewed 30 March 2014] Available from: doi:10.1111/j.1572-0241.1999.01639.x
  5. GLATZ SM , RICHARDSON JD . Esophagectomy for end stage achalasia . J Gastrointest Surg [online] 2007 ; 11 : 1134 – 7. [viewed 30 March 2014] Available from: http://link.springer.com/article/10.1007/s11605-007-0226-8