Case #001


12 y/o female with h/o vomiting, anorexia nervosa with regurgitation of stomach contents


Upper GI Barium study
KUB 15 minutes afterbarium study




Overview: Achalasia is a primary motility disorder of the esophageal smooth muscle in which there is a defect in the relaxation of the lower esophageal sphincter (LES) while swallowing, loss of peristalsis of the distal esophagus, and increased resting pressure of the LES. The annual incidence of achalasia is about 1.6 cases per 100,000. Diagnosis often occurs between the ages of 25-60 years. However in this case the onset is much earlier, at the age of 9 years. Achalasia affects males and females equally.

Pathophysiology: :In Achalasia there is a degeneration of the inhibitory neurons, ganglion cells, in the esophageal wall. More specifically, there are decreased numbers of neurons in the myenteric plexuses, and the remaining neurons are subject to inflammatory processes. Thus with this decrease in inhibitory neurons, there is a decrease in relaxation of the esophageal smooth muscle, thereby leading to the elevated sphincter tone.

Symptoms: Most common: Dysphagia for solids, dysphagia for liquids. Other symptoms include weight loss of usually 5-10kg, regurgitation especially at night with concerns for aspiration, halitosis,chest pain is common in younger patients, and decreases over time, and heartburn, although commonly seen in GERD, this symptom also presents in achalasia.

Diagnosis and Treatment:

Requires a combination of radiographic, manometric, and endoscopic studies. Focusing on radiology: Plain chest film may reveal widening of the mediastinum, which is due to the dilated esophagus. Furthermore, there may be absence of normal gastric air bubbles, which is due to the failure of LES relaxation, and thus inhibiting air from entering into the stomach.

The barium swallow study is a common test performed for diagnosis with an accuracy considered to be nearly 95%. Imaging reveals a dilated esophagus that terminates into a beak-like narrowing. This shape is due to the high pressures at the LE junction, thereby leading to the persistently contracted lower esophageal sphincter (LES). Fluoroscopy studies can show the absence of peristalsis in the smooth muscle portion of the esophagus. Other finding include esophagitis and ulceration; increased incidence of esophageal carcinomaNote that manometry is considered to be the final study for confirmation of suspected Achalasia.

Achalasia may be confused with Chagas disease, and carcinoma of the gastroesophageal junction due to similarity in radiographic finding. Treatment options include balloon dilatation, and Heller myotomy.


Brandt,W.E. and Helms, C. Fundamentals of Diagnostic Radiology. Wolts Kluwer,and Lippincott Williams and Wilkins: Philadelphia. 2012.
Goldblum JR, Rice TW, Richter JE. Histopathologic features in esophagomyotomy specimens from patients with achalasia. Gastroenterology. 1996 Sep;111(3):648-54.
Stuart J Spechler. Clinical manifestations and diagnosis of achalasia .
Stuart J Spechler. Pathophysiology and etiology of achalasia.