MIRAGE syndrome with recurrent pneumonia probably associated with gastroesophageal reflux and achalasia: A case report

Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy (MIRAGE) syndrome was first reported by Narumi and Amano et al. in 2016 (1). “MIRAGE” is an acronym for the aforementioned features/conditions that characterize this disorder. The prognosis of patients with MIRAGE syndrome varies depending on patients’ susceptibility to invasive infections. A previous study reported that 6 of 11 patients with this condition died of infections (1, 2) and that 4 of 9 patients who survived > 3 mo with a documented clinical course (1) manifested recurrent aspiration pneumonia during infancy and childhood. To date, no report available in the literature has described the detailed clinical course of MIRAGE-induced aspiration pneumonia. This case report highlights that recurrent aspiration pneumonia in patients with MIRAGE syndrome may be attributed to esophageal hypoperistalsis secondary to achalasia and to gastroesophageal reflux (GER) and that duodenal tube placement can effectively prevent recurrent aspiration pneumonia.