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Key Features

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Essentials of Diagnosis
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  • Emesis

  • Dysphagia

  • Weight loss

  • Chronic cough

  • Dilated esophagus with a tapered "beak" at the gastroesophageal (GE) junction

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General Considerations
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  • Rare in pediatrics

  • Incidence is 0.11 per 100,000

  • Most commonly in children who are older than 5 years

  • Cases during infancy have been reported, but overall < 5% of cases occur in patients younger than 15 years

  • Although no genetic or pathophysiologic basis has been identified, cases have been reported in pediatric autism patients

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Clinical Findings

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Symptoms and Signs
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  • Emesis (84.6%)

  • Dysphagia (69.2%)

  • Weight loss (46.0%)

  • Chronic cough (46.1%)

  • Patients may eat slowly and often require large amounts of fluid when ingesting solid food

  • Familial cases occur in

    • Allgrove syndrome (alacrima, adrenal insufficiency, and achalasia, associated with a defect in the AAAS gene on 12q13, encoding the ALADIN protein)

    • Familial dysautonomia

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Differential Diagnosis
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  • Congenital or peptic stricture, webs, and masses of the esophagus may mimic achalasia

  • Eosinophilic esophagitis commonly presents with symptoms of dysphagia and food impaction, similar to achalasia

  • Cricopharyngeal achalasia or spasm is a rare cause of dysphagia in children, but it shares some clinical features of primary achalasia of the lower esophageal sphincter (LES)

  • Intestinal pseudoobstruction, multiple endocrine neoplasia type 2b, systemic amyloidosis, and postvagotomy syndrome cause esophageal dysmotility similar to achalasia

  • In Chagas disease, caused by Trypanosoma cruzi, nNOS and ganglion cells are diminished or absent in the muscular layers of the LES causing an acquired achalasia

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Diagnosis

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  • Barium esophagram shows a dilated esophagus with a tapered "beak" at the GE junction

  • Fluoroscopy shows irregular tertiary contractions of the esophageal wall, indicative of disordered esophageal peristalsis

  • Achalasia has also been identified incidentally in patients undergoing GE scintigraphy

  • Esophageal manometry may show

    • High resting pressure of the LES

    • Failure of sphincter relaxation after swallowing

    • Abnormal esophageal peristalsis

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Treatment

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  • Endoscopic injection of botulinum toxin

    • Paralyzes the LES

    • Temporarily relieves obstruction

    • Has relapse rates > 50%

  • Pneumatic dilation of the LES produces temporary relief of obstruction that may last weeks to years

  • Surgical (Heller myotomy)

    • Advocated as best initial treatment because of concerns that dilation may increase inflammation between the esophageal mucosal and muscular layers

    • Recurrence risk of obstructive symptoms has been reported to be as high as 27%, with perforation rates up to 9.6%

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Outcome

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Prognosis
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  • Postoperative GERD is common

  • Pneumatic dilation may achieve better outcomes than Heller myotomy in children over age 6 years

  • Isolated case reports of peroral endoscopic myotomy (POEM) show

    • No complications

    • Complete symptom resolution at 12-month follow-up

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References

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Betalli  P  et al: Autism and esophageal achalasia in childhood: a possible correlation? Report on three cases. Dis Esophagus 2013 Apr;26(3):237–240
[PubMed: 22607127] .
CrossRef
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Di Nardo  G  et ...

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