The triad of shadows: Unraveling AAA syndrome

Abstract

AAA syndrome, also known as Allgrove syndrome, is a rare autosomal recessive disorder characterized by the triad of adrenal insufficiency, achalasia, and alacrima. It results from mutations in the AAAS gene, leading to defective ALADIN protein function, which disrupts nuclear transport and increases cellular vulnerability to oxidative stress. This report presents the case of an 8-year-old girl with a history of dysphagia, absence of tears, and hyperpigmentation, ultimately diagnosed with AAA syndrome despite financial constraints preventing genetic confirmation. The diagnosis was established based on clinical features and relevant investigations, including ophthalmological and gastrointestinal assessments. The case highlights the challenges of diagnosing and managing AAA syndrome, emphasizing the importance of early recognition, multidisciplinary care, and long-term follow-up to address potential neurological and systemic complications. Prompt initiation of hormone replacement therapy and supportive management can significantly improve patient outcomes.