title: Alacrima as a Harbinger of Adrenal Insufficiency in a Child with Allgrove (AAA) Syndrome.
abstract: BACKGROUND 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.
authors.affiliation: Department of Pediatric, New York Methodist Hospital, Brooklyn, NY, USA.
authors.forename: Brande
authors.initials: B
authors.lastname: Brown
authors.affiliation: Department of Pediatric Endocrinology, New York Methodist Hospital, Brooklyn, NY, USA.
authors.forename: Levon
authors.initials: L
authors.lastname: Agdere
authors.affiliation: Department of Pediatric, New York Methodist Hospital, Brooklyn, NY, USA.
authors.forename: Cornelia
authors.initials: C
authors.lastname: Muntean
authors.affiliation: Department of Genetics, New York Methodist Hospital, Brooklyn, NY, USA.
authors.forename: Karen
authors.initials: K
authors.lastname: David
mesh_terms: D000309:Adrenal Insufficiency / Q000175:diagnosis*; D002648:Child; D057210:Delayed Diagnosis; D004931:Esophageal Achalasia / Q000175:diagnosis*; D015785:Eye Diseases, Hereditary / Q000175:diagnosis*; D005260:Female; D006801:Humans; D007766:Lacrimal Apparatus Diseases / Q000175:diagnosis*