Serhane Zineb, Hassane Sara, Aynaou Hayat, Salhi Houda, Elouahabi Hanan
Department of Endocrinology, Diabetology, Metabolic Diseases and Nutrition, Hassan II University Hospital, Fes, MAR.
Cureus. 2024 May 12;16(5):e60151. doi: 10.7759/cureus.60151. eCollection 2024 May.
Pheochromocytomas are tumors that develop from the chromaffin cells of the adrenal medulla. More than 40% of cases of pheochromocytomas are associated with genetic conditions such as neurofibromatosis type 1 (NF1) or von Hippel-Lindau syndrome. Cystic pheochromocytomas are rare, generally asymptomatic, and thus of bigger size at the time of diagnosis. Surgical treatment is necessary to prevent cardiovascular morbidity and malignancy risk. We report the case of a 27-year-old patient admitted for further examination of a left adrenal mass that was discovered by an abdominal CT scan in the context of abdominal pain associated with hypertension evolving for three years. The clinical examination showed the presence of multiple café au lait spots, axillary and inguinal freckling with two dermal neurofibromas diagnosed clinically, as well as Lisch nodules on bilateral ophthalmic examination, thus meeting the clinical criteria for the diagnosis of NF1. The clinical laboratory investigation showed elevated urinary metanephrine and normetanephrine levels. CT scan examination showed a 10 cm left adrenal cystic mass on abdominal CT. This mass uptake of the radioligand in metaiodobenzylguanidine (MIBG) scintigraphy without secondary extra-adrenal localization allowed the diagnosis of a seemingly benign cystic pheochromocytoma to be made. The patient was put on presurgical drug preparation with volume expansion and then underwent left unilateral adrenalectomy. The histopathological study was in favor of a rather aggressive cystic pheochromocytoma with a pheochromocytoma of the adrenal gland scaled (PASS) score of 9. Blood pressure and urine catecholamines at seven days, three months, six months, and one year after surgery were normalized. Cystic pheochromocytoma is a rare tumor with a potentially poor prognosis. It is characterized by a more insidious evolution and a larger volume at diagnosis. It should be considered a diagnosis in patients with a cystic adrenal mass or an extra-adrenal mass with fluctuating blood pressure during surgery. This case illustrates the importance of both presurgical preparation and screening for pheochromocytoma in neurofibromatosis type 1.
嗜铬细胞瘤是起源于肾上腺髓质嗜铬细胞的肿瘤。超过40%的嗜铬细胞瘤病例与神经纤维瘤病1型（NF1）或冯·希佩尔-林道综合征等遗传疾病相关。囊性嗜铬细胞瘤罕见，通常无症状，因此在诊断时体积较大。手术治疗对于预防心血管疾病和恶性肿瘤风险是必要的。我们报告了一例27岁患者，因进一步检查左肾上腺肿块入院，该肿块是在伴有三年高血压的腹痛背景下通过腹部CT扫描发现的。临床检查发现有多个咖啡牛奶斑、腋窝和腹股沟雀斑，临床诊断为两个皮肤神经纤维瘤，双侧眼科检查发现有Lisch结节，因此符合NF1的临床诊断标准。临床实验室检查显示尿间甲肾上腺素和去甲间肾上腺素水平升高。腹部CT扫描检查显示左肾上腺有一个10厘米的囊性肿块。该肿块在间碘苄胍（MIBG）闪烁显像中摄取放射性配体且无肾上腺外继发性定位，从而诊断为看似良性的囊性嗜铬细胞瘤。患者接受了扩容的术前药物准备，然后进行了左肾上腺单侧切除术。组织病理学研究支持一种侵袭性较强的囊性嗜铬细胞瘤，肾上腺嗜铬细胞瘤分级系统（PASS）评分为9分。术后7天、3个月、6个月和1年的血压和尿儿茶酚胺恢复正常。囊性嗜铬细胞瘤是一种罕见肿瘤，预后可能较差。其特点是病情发展较为隐匿，诊断时体积较大。对于手术期间血压波动的肾上腺囊性肿块或肾上腺外肿块患者，应考虑该诊断。本病例说明了NF-1患者术前准备和嗜铬细胞瘤筛查的重要性。
