P332\u2005Complications of achalasia in a paediatric patient with down syndrome

Abstract

Introduction Achalasia is a motility disorder whose pathophysiology is still incompletely understood. Although rare, achalasia can be associated with Down syndrome, with a higher prevalence than the general population. The treatment is palliative and the medical management often fails whereas the endoscopic and surgical treatment relief symptoms on the long-term with comparable success rates. Case presentation We herein report the case of a 12 years old girl who was first referred to our hospital at the age of 3 for severe growth retardation. She was diagnosed from birth with Down syndrome by translocation, ventricular septal defect and interventricular membranous septal aneurysm. She presented post-prandial regurgitation from infancy, failure to thrive and numerous respiratory tract infections. Based on clinical symptoms and timed barium oesophagogram we defined the case as achalasia with megaoesophagus. She was transferred to the surgical unit and underwent a surgical myotomy with fundoplication. She developed an oesophageal-mediastinal fistula for which a total oesophagectomy was performed, with colon interposition for oesophageal replacement. One year later, the patient presented melena and required another surgery for cologastric anastomotic stricture and anastomotic ulcerations. After a long-term asymptomatic period, during her last assessment she was diagnosed with pneumonia, aspiration syndrome and pleural effusion. The CT scan described a dilated, tortuous colon graph with significant stasis. As there was an important intra-thoracic compression with respiratory distress, she was transferred for surgical treatment considering this life-threatening disorder. Discussion This case highlights the complex treatment of an uncommon association of achalasia and Down syndrome by translocation. Given that the treatment for achalasia in children is still continuously debated, the therapeutic option should depend on the patient and further attention should be given towards the long-term complications .