ESPE Abstracts

Introduction: Von Hippel-Lindau disease(VHL) is an autosomal dominantly inherited tumor syndrome that predisposes to development benign and malignant tumors. The prevalence of VHL disease is one in 36,000, and the penetrance is higher than 90%. PCC occur in up to 20% of VHL patients. Classically, it is characterized by having an adrenal location, mostly bilateral and being derived from the sympathetic nervous system, resulting in the releases of catecholamines with norepinephrine predominance. Rarely transform into malignant tumors.

Patients: The index case was a 6-year-old girl who was diagnosed with a retinal hemagioma. A year later, she developed hypertension and enlargement of both adrenal glands. The catecholamine profile showed a predominance of norepinephrine (Eur: 3.8mg/24h, NEur:1150mg/24h (11-75), VMA: 23.7 mg/24h (1.2-0.5). Left adrenalectomy and the resection of a right paraadrenal tumor were performed. Histophatology studies confirmed left PCC and right PGL. The molecular biology study identified a pathogenic variant in the VHL gene:p.Gly92Ser, confirming the diagnosis of VHL disease. She continued with periodic clinical and biochemical controls, finding a new increased catecholamines in 24-h urine.(E:13.6mg/24h (0-21), NE: 288.7 mg/24hl18-110), MN: 54.6 nmol/L(<130), NMN: 957 nmol/L(<334). Imaging studies of the abdomen were normal and a nodular image (21x24.5 mm) with intense enhancement in the left costovertebral angle was found in the computed axial tomography. The tumour was confirmed with MIBG-I131 scintigram, that showed a lesion with increased uptake in left upper lobe of the lung. After surgical resection, histopathology studies confirmed well-differentiated PGL. 24h urinary catecholamine levels normalized(NEur: 50.9 mg/24hs) after surgery. After index case diagnosis, her sister began clinical and biochemical control. When she was 11years-old a tumor in adrenal gland was found in abdominal MNR. Catecholamine levels were normal in two opportunities (E:2.3mg/24hs (0-21), NE:22.5 mg/24hs(18-110), VMA:3 mg/24hs(<8.5), MN: 54.6nmol/L(<130), NMN: 142nmol/L(<334) Adrenal cortex hormones were also in normal ranges. It was decided to maintain expectant management. One year later, an abdominal CT was performed and the nodule in the right adrenal gland had increased by 50%(47.7x37x42mm). Catecholamines were still in normal ranges. Surgical resection was performed and PCC was confirmed in an anatomopathological study.

Conclusions: We found two atypical presentations of CCP/PGL in patients with VHL disease that emphasize the importance of close clinical follow-up in these patients, and the possibility of achieving early detection of other unusual clinical manifestations, avoiding possible complications and greater survival.