Acute Esophageal Necrosis in Prader–Willi Syndrome

Acute esophageal necrosis (AEN) is a rare ischemic condition that universally affects the mucosa and submucosa of the distal esophagus. Limited data exists to guide nonoperative management of this unique disease. We present the nonoperative management of a 46-year-old man with an unusual syndromic presentation of AEN, Prader-Willi. Diffuse esophageal necrosis, while most common in older patients, can be seen in younger patients with risk factors for thrombosis. A 46-year-old male with Prader–Willi Syndrome was admitted to a medicine service for treatment of a presumed right lower lobe pneumonia having symptoms of breathlessness. A chest roentgenogram showed a right lower lobe consolidation associated with leukocytosis. The patient had syndromic features of Prader–Willi including infantile hypotonia, feeding difficulties at birth, poor growth, and delayed development. He also had characteristic features including a narrow forehead, almond-shaped eyes, short stature, and small hands and feet. Acute esophageal necrosis (AEN) or “black esophagus,” is an extremely rare endoscopic finding, with an incidence only approaching 0.001%. With only approximately 100 case reports in the English literature, it is an orphan diagnosis, and the most widely cited review is by Gurvits. Development of AEN is most likely multifactorial resulting from tissue hypoperfusion impaired mucosal barrier, and backflow injury from gastric secretions.