# Early Presentation of Achalasia to the Otorhinolaryngology Department

## TL;DR

A 13-year-old girl with achalasia showed symptoms like dysphagia and weight loss, leading to surgical treatment and recovery.

## Contribution

Highlights the importance of early diagnosis of achalasia in pediatric patients presenting to non-gastroenterology specialties.

## Key findings

- Achalasia was diagnosed in a 13-year-old with progressive dysphagia and weight loss using imaging and endoscopy.
- Surgical management led to significant symptom improvement and weight recovery.
- Early recognition and multidisciplinary evaluation are critical for effective treatment in pediatric achalasia.

## Abstract

Achalasia is a rare esophageal motility disorder characterized by impaired peristalsis and incomplete relaxation of the lower esophageal sphincter (LES), leading to progressive dysphagia, regurgitation, retrosternal pain, and weight loss. Although the disease is usually detected in adults, pediatric presentations are uncommon and often overlooked, resulting in delayed diagnosis and management. The underlying pathophysiology involves degeneration of inhibitory neurons in the myenteric plexus, causing an imbalance between excitatory and inhibitory neurotransmission, which leads to esophageal outflow obstruction. We describe the case of a 13-year-old female who presented with a two-year history of progressive dysphagia to both solids and liquids, frequent regurgitation, and meal-associated retrosternal pain. She reported significant weight loss of 2 kg over two months despite preserved appetite. A barium swallow demonstrated the characteristic “rat-tail” sign at the gastroesophageal junction, while upper gastrointestinal endoscopy and computed tomography confirmed esophageal dilatation and tapering at the LES. With an Eckardt score of 10, indicating moderate-to-severe disease, the patient was referred for surgical management. She subsequently underwent laparoscopic Heller’s cardiomyotomy with Dor’s fundoplication. Postoperatively, she demonstrated marked symptomatic improvement, weight recovery, and rapid return to normal daily activities. This case highlights the importance of considering achalasia in the differential diagnosis of persistent pediatric dysphagia, which may initially present to specialties such as otorhinolaryngology. Early recognition through imaging and high-resolution manometry is critical to avoid complications such as aspiration, malnutrition, or airway obstruction. Multidisciplinary evaluation and timely surgical intervention remain the cornerstone of treatment, offering excellent long-term outcomes in both pediatric and adult populations.