Coexistence of Friedreich's Ataxia and Esophageal Cancer: A Case Report

Friedreich's ataxia (FA) is a rare autosomal recessive neurodegenerative disorder. Although FA is frequently associated with cardiomyopathy and diabetes mellitus, its coexistence with solid malignancies is exceptionally rare. To date, only a limited number of gastrointestinal cancers have been reported in patients with FA. This case report presents the first documented occurrence of esophageal squamous cell carcinoma (ESCC) in a genetically confirmed FA patient, highlighting the diagnostic challenges and therapeutic considerations encountered in this unique clinical setting. A 48-year-old Iranian man with a 29-year history of Friedreich's ataxia presented with an 8-month history of progressive dysphagia, recurrent hematemesis, and recent onset of complete aphagia. On examination, he was cachectic and exhibited severe alopecia, kyphoscoliosis, dysarthria, and a non-ambulatory status. Laboratory evaluation demonstrated profound anemia and elevated alkaline phosphatase levels. Upper gastrointestinal endoscopy revealed a circumferential, obstructing mass in the mid-esophagus, and histopathological analysis confirmed moderately differentiated ESCC. Given the patient's advanced frailty, underlying cardiomyopathy, and severe malnutrition, curative chemoradiotherapy was deemed contraindicated. Palliative management included blood transfusion, nasogastric decompression, and placement of an esophageal stent. Despite these supportive interventions, the patient experienced hemodynamic instability and progressive neurological deterioration, ultimately succumbing to disease progression.