Bari Anwarul, Jamila Marjan, Barua Deepta Anik, Atkia Abida Chowdhury Adiat, Barman Hironmoy
Medicine, Sir Salimullah Medical College, Dhaka, BGD.
Cureus. 2025 Jun 30;17(6):e87050. doi: 10.7759/cureus.87050. eCollection 2025 Jun.
We report a complex case of pheochromocytoma in a 50-year-old woman with a longstanding diagnosis of neurofibromatosis type 1 (NF-1), characterized by multiple cutaneous neurofibromas and axillary freckling. NF-1 is an autosomal dominant disorder that infrequently presents with pheochromocytoma, a potentially life-threatening endocrine tumor. The patient's clinical presentation included recurrent abdominal pain, unintentional weight loss, and poorly controlled hypertension despite longstanding antihypertensive treatment and management of type 2 diabetes mellitus. What makes this case unique is the size of the tumor (10 cm), the initial misinterpretation as a renal mass, and the delay in diagnosis despite classical symptoms. Diagnostic workup revealed a palpable right renal mass, with ultrasound and computed tomography confirming a large adrenal mass. Elevated urinary metanephrines established the diagnosis of pheochromocytoma. This case underscores the necessity for clinicians to maintain a high index of suspicion for pheochromocytoma in patients with NF-1 and hypertensive symptoms to enable timely intervention and prevent severe complications.
我们报告了一例复杂的嗜铬细胞瘤病例，患者为一名50岁女性，长期诊断为1型神经纤维瘤病（NF-1），其特征为多发性皮肤神经纤维瘤和腋窝雀斑。NF-1是一种常染色体显性疾病，很少出现嗜铬细胞瘤，这是一种潜在的危及生命的内分泌肿瘤。患者的临床表现包括反复腹痛、体重意外减轻，尽管长期进行抗高血压治疗并管理2型糖尿病，但高血压仍控制不佳。该病例的独特之处在于肿瘤大小（10厘米）、最初被误诊为肾脏肿块以及尽管有典型症状但诊断延迟。诊断检查发现可触及右肾肿块，超声和计算机断层扫描证实为肾上腺大肿块。尿间甲肾上腺素升高确诊为嗜铬细胞瘤。该病例强调了临床医生对有NF-1且有高血压症状的患者保持高度怀疑嗜铬细胞瘤的必要性，以便及时干预并预防严重并发症。
