Introduction: Allgrove syndrome (AS), or “Triple A” syndrome, is a rare autosomal recessive disorder first described in 1978. It affects approximately 1 in a million individuals and is caused by mutations in the AAAS gene on chromosome 12q13. This gene encodes the ALADIN protein, essential for cellular function in various tissues. The syndrome is defined by a triad of clinical features: alacrima (absence of tears), achalasia (esophageal dysfunction), and adrenocorticotropic hormone-resistant adrenal insufficiency. Neurological involvement, including autonomic and peripheral neuropathies, is more commonly observed later in life, making early diagnosis challenging. Case presentation: A 4-year-old girl presented with vomiting, dysphagia, generalized weakness, alacrima, and skin hyperpigmentation. Addison disease was confirmed by elevated adrenocorticotropic hormone levels, and achalasia was diagnosed via a barium swallow test showing a bird’s beak sign. Although treatment was initiated, surgery was initially delayed due to the patient’s condition. Later, she developed seizures and neurological deterioration. Magnetic resonance imaging revealed cerebral atrophy, confirming the diagnosis of AS with neurological involvement. Treatment included medications targeting adrenal insufficiency and symptom management; however, there was no significant improvement in neurological symptoms or oral intake. Surgical intervention with Heller myotomy and gastrostomy led to improved feeding. Conclusions: AS can lead to serious complications, including life-threatening adrenal crises if undiagnosed. Early identification of glucocorticoid deficiency is vital to prevent mortality and long-term morbidity. Timely recognition and a multidisciplinary approach are essential. Regular follow-ups are necessary to manage neurological progression and support normal development in affected children.
Salame et al. (Fri,) studied this question.