Growth and Endocrine Unit, Hirabai Cowasji Jehangir Medical Research Institute, Pune, Maharashtra, India.
Interdisciplinary School of Health Sciences, Savitribai Phule Pune University, Pune, Maharashtra, India.
BMJ Case Rep. 2022 Feb 7;15(2):e246751. doi: 10.1136/bcr-2021-246751.
We present a 12-year-old girl with recent onset weight gain and purple striae over the abdomen. Examination revealed her to be hypertensive. On evaluation for Cushing syndrome (CS), her cortisol and adrenocorticotropic hormone (ACTH) were found to be high. MRI brain showed a suspicious lesion (thought to be pituitary microadenoma). Inferior petrosal sinus sampling was not conclusive of pituitary source of ACTH. High dose dexamethasone suppression test confirmed an ectopic source of ACTH secretion and CT scan revealed a mass in the right kidney which was laparoscopically excised. Histopathology and immunohistochemistry confirmed Ewing sarcoma. Our case highlights the rare presentation of renal Ewing sarcoma (RES) as CS. To the best of our knowledge, this is only the second case report of RES/primitive neuroectodermal tumour of the kidney presenting as CS in paediatric age group and first with a concomitant pituitary incidentaloma.
我们报告了一例 12 岁女孩，近期体重增加，并出现腹部紫色条纹。检查发现她患有高血压。在评估库欣综合征（CS）时，发现她的皮质醇和促肾上腺皮质激素（ACTH）水平升高。脑部 MRI 显示可疑病变（疑似垂体微腺瘤）。蝶鞍窦取样不能确定 ACTH 的垂体来源。大剂量地塞米松抑制试验证实 ACTH 分泌的异位来源，CT 扫描显示右肾有一肿块，通过腹腔镜切除。组织病理学和免疫组织化学证实为尤文肉瘤。我们的病例提示了一种罕见的以 CS 为表现的肾脏尤文肉瘤（RES）。据我们所知，这是小儿年龄组中仅有的第二例以 CS 为表现的 RES/肾原始神经外胚层肿瘤的病例报告，也是首例伴有垂体偶然瘤的病例。
