Diagnosis of neurofibromatosis type 1 – related pheocromocytoma after stroke and myocardial infarction

Abstract

Hereditary syndromes underlying neuroendocrine tumours are extremely heterogeneous and, despite the genetic background, their recognition may actually be done later in life in many cases. Our purpose is to introduce a case of neurofibromatosis type 1 – related pheocromocytoma on a patient within his six decade of life after multiple cardiovascular complications. A 53-year old male is admitted for loss of appetite with weight loss, decreased exercise tolerance, transient occipital headache, night sweats. His medical history revealed arterial hypertension, right carotid artery ischemic stroke, and a recently non-STEMI myocardial infarction diagnosed two months ago. The pathological family history illustrated mother and a brother prematurely dying of myocardial infarction (no date of skin anomalies). Clinical examination reveals café-au-lait spots, axillary freckles, skin neurofibromas and a large plexiform neurofibroma in the right thigh. Evaluation of the adrenal gland revealed highly elevated values of urinary metanephrines and normetanephrines. Computed tomography showed a left adrenal gland tumour of 31/39 mm. Thus neurofibromatosis type 1 in addition to a left pheocromocytoma was confirmed. A cardiologic examination before surgery was re-done. Given previous pathological history (cardiovascular events like stroke and nonSTEMI infarction) adrenalectomy was delayed for the moment in addition to second antiplatelet agent and the alpha blocker medication in increasing doses. The adrenal tumour removal is planned to be done as soon as cardiovascular risk is acceptable. The importance of endocrine check is seen in young patients with severe cardiovascular and neurological acute conditions that are actually caused by a hormonal excess like found in pheocromocytoma. Nevertheless, the spectrum of tumours associated with neurofibromatosis type 1 is heterogeneous and screening protocols are still a matter of debate. Delayed diagnosis worsts the overall prognosis.

Keywords

• arterial hypertension
• neurofibromatosis
• adrenal tumour
• pheocromocytoma