Mistake in diagnosis, Diagnostic / therapeutic accidents, Management of emergency care, Rare disease
Brande Brown, Levon Agdere, Cornelia Muntean, Karen David
Department of Pediatric, New York Methodist Hospital, Brooklyn, NY, USA
Am J Case Rep 2016; 17:703-706
Allgrove syndrome, or triple “A” syndrome (3A syndrome), is a rare autosomal recessive syndrome with variable phenotype, and an estimated prevalence of 1 per 1,000,000 individuals. Patients usually display the triad of achalasia, alacrima, and adrenocorticotropin (ACTH) insensitive adrenal insufficiency, though the presentation is inconsistent.
CASE REPORT: Here, the authors report a case of Allgrove syndrome in a pediatric patient with delayed diagnosis in order to raise awareness of this potentially fatal disease as a differential diagnosis of alacrima.
CONCLUSIONS: The prevalence of Allgrove syndrome may be much higher as a result of underdiagnosis and missed diagnosis due to the variable presentation and sudden unexplained childhood death from adrenal crisis. The authors review the characteristic symptoms of Allgrove syndrome in relation to the case study in order to avoid missed or delayed diagnosis, potentially decreasing morbidity, and mortality in those affected by this disease.
Keywords: adrenal insufficiency, Endocrinology, Esophageal Achalasia, Hospitals, Pediatric