Piskinpasa H, Dogansen S C, Metin D, Gumusoglu A Y, Altinay S, Sipahi M, Dogan B, Apaydin S
Dept. of Endocrinology and Metabolism, Bakirkoy Dr. Sadi Konuk Training and Research Hospital, Istanbul, Turkey.
Dept. of Radiology, Bakirkoy Dr. Sadi Konuk Training and Research Hospital, Istanbul, Turkey.
Acta Endocrinol (Buchar). 2022 Jul-Sep;18(3):350-354. doi: 10.4183/aeb.2022.350.
Tuberous sclerosis complex (TSC) is an inherited neurocutaneous disease characterized by multiple hamartomas in multiple organs. However, there is limited evidence about neuroendocrine tumors (NETs) in patients with TSC, and routine screening of NETs is not recommended in the guidelines. Insulinomas are also an extremely rare disease. According to our knowledge, we presented the 10th TSC patient diagnosed with insulinoma in the literature. Thirty-two years old male patient diagnosed with TSC at the age of 27 due to typical skin findings, renal angiomyolipoma, history of infantile seizures, and cranial involvement was referred to our clinic. The main symptoms of the patient were palpitations, diaphoresis, confusion, and symptoms were improved after consuming sugary foods. Seventy-two hours fasting test was performed, and a low glucose level at 41 mg/dl, a high insülin level at 21.65 µIU/mL, and a high C-peptide level at 7.04 ng/mL were found at the 8th hour. In addition, a 12x7 mm lesion in the pancreatic tail was detected in abdominal imaging. Ga-68 PET-CT (gallium-68 positron emission tomography-computed tomography) detected an increased uptake of Ga-68 in the pancreatic tail. The patient underwent distal pancreatectomy, and pathological evaluation was consistent with an insulinoma. The patient's symptoms improved postoperatively. Since in nearly all TSC cases, as in our case, neuropsychiatric abnormalities, such as epilepsy, are one of the main disease manifestations, and these symptoms may be confused with the clinical manifestations of hypoglycemia in insulinoma. Therefore, patients with newly developed neurological symptoms and behavioral defects should be evaluated in terms of insulinoma.
结节性硬化症（TSC）是一种遗传性神经皮肤疾病，其特征是多个器官出现多发性错构瘤。然而，关于TSC患者发生神经内分泌肿瘤（NETs）的证据有限，且指南不建议对NETs进行常规筛查。胰岛素瘤也是一种极为罕见的疾病。据我们所知，我们报道了文献中第10例诊断为胰岛素瘤的TSC患者。一名32岁男性患者，27岁时因典型的皮肤表现、肾血管平滑肌脂肪瘤、婴儿期癫痫病史和颅脑受累而被诊断为TSC，转诊至我们的诊所。患者的主要症状为心悸、多汗、意识模糊，食用含糖食物后症状改善。进行了72小时禁食试验，第8小时时血糖水平低至41mg/dl，胰岛素水平高至21.65µIU/mL，C肽水平高至7.04ng/mL。此外，腹部影像学检查发现胰尾有一个12x7mm的病变。Ga-68 PET-CT（镓-68正电子发射断层扫描-计算机断层扫描）检测到胰尾Ga-68摄取增加。患者接受了胰体尾切除术，病理评估结果与胰岛素瘤一致。患者术后症状改善。由于几乎在所有TSC病例中，如我们的病例一样，癫痫等神经精神异常是主要的疾病表现之一，而这些症状可能与胰岛素瘤低血糖的临床表现相混淆。因此，对于新出现神经症状和行为缺陷的患者，应评估是否患有胰岛素瘤。
