Abstract
BACKGROUND: Alpha-thalassemia X-linked intellectual disability (ATR-X) syndrome, is a rare genetic disorder, caused by mutations in the ATRX gene. Clinical manifestations include typical facial dysmorphisms, mild-to-severe intellectual disability, hypotonia, genital anomalies, significant gastrointestinal (GI) complications, such as abdominal distension, chronic constipation, feeding difficulties, gastroesophageal reflux, and mild-to-moderate anemia secondary to alpha-thalassemia. CASE PRESENTATION: We report a patient with ATR-X syndrome suffering from gastrointestinal dysmotility and highlight the beneficial effects of pyridostigmine. Knowledge about the role and appropriate dosage of pyridostigmine in GI motility disorders is limited. To date, only nine pediatric cases involving pyridostigmine for GI dysmotility have been reported. CONCLUSIONS: Considering current understanding about the treatment of gastrointestinal complications in patients with genetic syndromes, this case provides new insights into management of these complex clinical presentations.