P-013 ADRENAL PHEOCHROMOCYTOMA MASQUERADING AS RETROPERITONEAL HEMATOMA IN A FEMALE PATIENT WITH UNDIAGNOSED NEUROFIBROMATOSIS TYPE 1

Abstract Introduction Neurofibromatosis type 1 (NF1) is one of the most common genodermatoses, and it can be associated with pheochromocytoma (PСC) in approximately 7% of cases. We present a case of postmortem diagnosis of PCC in female patient with undiagnosed NF-1. Clinical case Female patient had more than six skin café-au-lait macules, axillary freckling and small multiple subcutaneous neurofibromas that did not cause any inconvenience to her, so she did not complain, and GP did not pay attention to it. Since age 40, GP noted episodes of increased blood pressure (BP) up to 160/90 mm Hg when the patient referred with a cold but usually BP was 120/80 mm Hg so it was interpreted as vascular reaction to the flue. After 2 years at age 42 the patient had a deterioration of her condition with fatigue, increased BP up to 200/100 mm Hg, so standard antihypertensive therapy was initiated – during monitoring BP was 120/80mm Hg. One year after, the patient was urgently hospitalized with severe weakness, headache and BP 200/110 mm Hg that was resistant to intensive antihypertensive therapy, an extensive hematoma in the right lumbar region was noted. Then BP dropped to 90/80 mm Hg precipitously, the patient experienced epigastric pain and syncope. CT scan revealed a heterogeneous retroperitoneal mass, interpreted as a right retroperitoneal hematoma. However, during repeated laparotomies the bleeding source was not identified, the tissues were impregnated with blood and there were no visible signs of tumor, small multiple gastrointestinal stromal tumors were found. Despite intensive medical treatment, patient’s condition deteriorated into multi-organ failure and sepsis, and she died. Postmortem histological examination revealed a right adrenal pheochromocytoma infiltrating an adrenal vein, tumor was with huge hemorrhage that led to misunderstanding of CT-picture. Given the above-described skin changes, the patient was posthumously examined by a geneticist and diagnosis of NF-1 was confirmed. Conclusion A young female patient with clinical signs of neurofibromatosis type 1 experienced episodes of high BP that should have led to suspect a pheochromocytoma. Unfortunately, the diagnosis of NF-1 and a pheochromocytoma were overlooked. At the time of the final hospitalization, due to the patient's critical condition and massive ongoing therapy it was not possible to either confirm or rule out a pheochromocytoma. The clinical pictures and CT scans were characteristic to the hemorrhage, the tumor localization (high in the retroperitoneal space) and massive hemorrhage did not allow to identify the tumor even on laparoscopy. Thus, the delayed diagnosis of NF1 and its associated pheochromocytoma was the cause of the lethal outcome.