Endocrine Abstracts

Introduction: Neurofibromatosis type 1 is a disease caused by mutations in the tumor suppressor gene NF1.

Although pheochromocytoma is a rare manifestation in these patients (~0.1–5.7%), the incidence is significantly higher than that of the general population.

Results (case description): A 50 years old female patient had a clinical diagnosis of neurofibromatosis type 1 since she was 5 years old. She received follow-up in internal medicine appointments since 1999 after a paroxistic episode of headache, palpitations, dizziness and pre-cordial discomfort in the postpartum period, initially attributed to anxiety. The episodes were repeated in the following years and coincided with hypertensive peaks. In 2002 she was admitted to the hospital, and the complementary diagnosis exams revealed: increase in metanephrines and vanillmandelic acid; heterogeneous nodular formations on the left and on the right adrenal glands(~5.2 × 4.9 cm and ~5.4 × 8.9 cm, respectively) in abdominal computerized tomography; bilateral adrenal masses intensely fixating the radiopharmaceutical contrast in the MIBG scintigram. She underwent a bilateral adrenalectomy (after α and β block). The anatomopathological result reported a “bilateral pheochromocytoma” - PASS score 3 on the right and 6 on the left. In the subsequent years, she underwent follow-up in endocrinology and internal medicine appointments at different hospitals, however some appointmentswere missed. In 2015 a chest magnetic resonancerevealed an hyperintense 16 × 19 mm right-hilar nodular lesion in T1 and T2. Between 2016–2018, slightly elevated metanephrines were detected - maximum metanephrine 185,7 ng/ml (<60) and normetanephrine 247,9 ng/ml (<120). In 2019, DOPA-F18positron emission tomography (PET) revealed right bronchociliary nodular formation with intense DOPA-F18 uptake, suggesting a neuroendocrine tumor /pheochromocytoma ganglion metastasis. The patient underwent excision of the right hilar lesion (after α and β block) and the anatomopathological result reported a pheochromocytoma metastasis, PASS 5 score, ki67 <1%. Currently, sheis under regular clinical, biochemical and imagiological follow-up at the endocrinology department.

Conclusions: Although pheochromocytoma is a rare manifestation of neurofibromatosis type 1, the presence of arterial hypertension in these patients should lead to suspicion of the diagnosis. The hypertensive crisis recorded in the postpartum period was one of the first manifestations of the tumor.

Patients with neurofibromatosis type 1must be monitored regularly by professionals specialized in the various manifestations of the disease. The irregular follow-up of this patient, hindered an adequate evaluation and delayed the diagnosis of metastatic disease.