Brown Brande, Agdere Levon, Muntean Cornelia, David Karen
Department of Pediatric, New York Methodist Hospital, Brooklyn, NY, USA.
Department of Pediatric Endocrinology, New York Methodist Hospital, Brooklyn, NY, USA.
Am J Case Rep. 2016 Oct 4;17:703-706. doi: 10.12659/ajcr.899546.
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.
奥尔格罗夫综合征，即三联征“A”综合征（3A综合征），是一种罕见的常染色体隐性综合征，表型多样，估计患病率为百万分之一。患者通常表现为贲门失弛缓症、无泪症和对促肾上腺皮质激素（ACTH）不敏感的肾上腺皮质功能减退三联征，但其表现并不一致。病例报告：在此，作者报告了一例小儿奥尔格罗夫综合征患者诊断延迟的病例，以提高对这种潜在致命疾病作为无泪症鉴别诊断的认识。结论：由于表现多样以及肾上腺危象导致儿童不明原因突然死亡，奥尔格罗夫综合征可能因诊断不足和漏诊而实际患病率更高。作者结合病例研究回顾了奥尔格罗夫综合征的特征性症状，以避免漏诊或诊断延迟，从而可能降低该病患者的发病率和死亡率。
