Medicine
A 45-year-old woman presented with 9-months history of worsening dysphagia for both solid and liquid.
Recently she had episodes of ill defined central chest discomfort and nocturnal cough. Clinical examination was unremarkable (see lab results). Test Result Normal Values RBC 5 4.7-6.1 x 1012/L (Male) 4.2-5.4 x 1012/L (Female) Hb 11.8 130-170 g/L. (Male) 120-160 g/L (Female) Platelets count 300 150-400 x 109/L WBC 7 4.5-10.5 x 109/L ESR 13 2-10 mm/h (Male) 3-15 mm/h (Female) Which of the following is the most likely diagnosis?
Explanation
Core Concept: Achalasia is a primary esophageal motility disorder characterized by the failure of the lower esophageal sphincter (LES) to relax and absent esophageal peristalsis due to degeneration of inhibitory ganglion cells in the myenteric plexus.
Clinical Presentation:
- Progressive dysphagia to *both* solids and liquids simultaneously, regurgitation of undigested food, nocturnal cough/aspiration, and weight loss.
Diagnosis:
- First-line: Barium swallow showing a 'bird's beak' appearance with esophageal dilation.
- Gold Standard: High-resolution esophageal manometry showing incomplete LES relaxation and aperistalsis.
Management:
- Acute: Pneumatic dilation or botulinum toxin injection (temporary).
- Long-term/Definitive: Surgical Heller myotomy (often with partial fundoplication) or Peroral Endoscopic Myotomy (POEM).