A 16-year-old boy presented with triple-A syndrome associated with neuromuscular disorders: a case report

Abstract

Introduction and importance: Allgrove syndrome (AAA syndrome) is a rare autosomal recessive disease caused by mutations in the AAAS gene located on chromosome 12q13. The AAAS gene encodes for the ALADIN protein (alacrima, achalasia, adrenal insufficiency, neurologic disorder). Allgrove syndrome can manifest with a plethora of symptoms. Early recognition of the syndrome remains challenging due to its rarity and progressive nature. This report presents an unusual case of Triple-A Syndrome with concurrent neuromuscular manifestations. Understanding the atypical presentation of this syndrome is vital for early diagnosis and appropriate management. Case presentation: We report A 16-year-old boy with severe malnutrition presented with painful swallowing, fatigue, and bilateral congenital ptosis. Barium swallow, upper GI endoscopy, and Shimmer test were performed which led to the diagnosis of Triple-A syndrome. Treatment included Laparoscopic Heller’s Procedure, artificial tears, Hydrocortisone. Clinical discussion: Triple-A syndrome, also known as Allgrove syndrome, is a rare multisystem disorder characterized by achalasia, Addison’s disease, and alacrima. This syndrome is occasionally referred to as 4A syndrome due to the inclusion of autonomic dysfunction. There is no treatment for Allgrove syndrome. Management includes artificial tears for alacrima, glucocorticoid replacement therapy to treat adrenal insufficiency, and treatment of achalasia. Conclusion: This case emphasizes the importance of considering atypical presentations of Triple-A syndrome. Early diagnosis and treatment are paramount in addressing the varied components of this rare disorder. Understanding the clinical complexities of this syndrome aids in improved patient care and underscores the necessity for comprehensive evaluation and management in similar cases.