Perakakis N, Laubner K, Keck T, Steffl D, Lausch M, Meyer P T, Burger D, Csanadi A, Seufert J
Division of Endocrinology and Diabetology, Department of Internal Medicine II, University Hospital of Freiburg, Freiburg, Germany.
Exp Clin Endocrinol Diabetes. 2011 Oct;119(9):525-9. doi: 10.1055/s-0031-1284368. Epub 2011 Oct 17.
Ectopic ACTH production causes 10% of Cushing's syndromes. The diagnostic workup is difficult, can last more than 6 months (> 50% of cases), and the underlying tumour is still frequently not located (12%). Carcinoid tumours of the appendix are frequent and are revealed in 0.3% of patients undergoing routine appendectomy. However, neuroendocrine tumours of the appendix with ACTH production are an extremely rare entity. Here we report the case of a female patient with clinically overt Cushing's syndrome due to ectopic ACTH-production from a carcinoid tumour of the appendix. During the diagnostic workup, repeated endocrine tests, multiple different imaging modalities and frequent and lengthy hospitalisations were necessary. Wrongly, even a neurosurgical pituitary exploration was performed. After 12 months from the initial admission, the tumour was finally detected by an ¹⁸F-fluoro-L-dihydroxyphenylalanine (¹⁸FDOPA PET) and an appendectomy followed by right hemicolectomy were performed. The patient recovered rapidly and the symptoms from the hypercortisolism were no more present.In this case, we discuss the multitude of problems, which may delay the diagnosis and the pitfalls, that should be avoided in order to locate the tumour and to initiate adequate therapy as early as possible. Furthermore, our case demonstrates the complexity of diagnostic procedures, which demand most of the times a multidisciplinary approach. In this setting, regular follow-ups in short time intervals and the use of novel imaging techniques can finally cut the diagnostic "Gordian knot".
异位促肾上腺皮质激素（ACTH）分泌导致10%的库欣综合征。诊断检查困难，可能持续超过6个月（>50%的病例），且潜在肿瘤仍常常无法定位（12%）。阑尾类癌肿瘤很常见，在接受常规阑尾切除术的患者中占0.3%。然而，分泌ACTH的阑尾神经内分泌肿瘤是一种极其罕见的实体。在此，我们报告一例女性患者，因阑尾类癌肿瘤异位分泌ACTH导致临床明显的库欣综合征。在诊断检查过程中，需要反复进行内分泌检查、多种不同的影像学检查以及频繁且长时间的住院治疗。甚至错误地进行了神经外科垂体探查。在首次入院12个月后，最终通过¹⁸F-氟-L-二羟基苯丙氨酸（¹⁸FDOPA PET）检测到肿瘤，并进行了阑尾切除术及随后的右半结肠切除术。患者恢复迅速，高皮质醇血症的症状不再出现。在本病例中，我们讨论了可能延迟诊断的众多问题以及应避免的陷阱，以便定位肿瘤并尽早开始适当治疗。此外，我们的病例展示了诊断程序的复杂性，这在大多数情况下需要多学科方法。在这种情况下，短时间间隔的定期随访和使用新型成像技术最终可以解开诊断的“戈尔迪之结”。
