Endocrine Abstracts

Introduction: Neurofibromatosis type 1(NF1) is an autosomal dominant genodermatosis that affect multiple organs. It represents one of the most frequent genetic diseases. The diagnosis is primarily clinical and is based on the NIH criteria (National Institutes of Health) established in 1988, and revised in 2021. We report a case of male patient with NF1 revealed by a pheochromocytoma.

Case Report: A 26-years-old man patient with no previous medical history, who presented at the age of 6 the appearance of coffee-like spots, neurofibromas and diffuse lentigines. The evolution was marked by abdominal pain more accentuated in the right hypochondrium. Abdominal CT scan showed a well-limited adrenal tissue mass 50×57×40 mm, with tissue density (49 units in C-). Plasmatic metanephrines were elevated. The eye fundus showed Lich nodules. Brain MRI showed an unidentified bright object related to his disease. Right Surrenalectomy was performed after medical preparation with doxasocin. Histopathological study reveled an agressive pheochromocytoma.

Discussion: NF1 is a disease with heterogeneous clinical expression. On the clinical level, it presents a polymorphic profil, with coffee-like spots, plexiform neurofibromas, axillary and/or inguinal lentigines, Lich nodules, subcutaneous and cutaneous neurofibromas. Pheochromocytoma is a rare disease in NF1, affecting 1 to 15% of NF1 patients, according to studies, This diagnosis must be suspected in a subject with NF1 subject in front of clinical signs of hypertensive flare-ups (sweat flare-ups, palpitations, headaches, anxiety, agitation); minor signs such as malaise, weight loss, abdominal or lumbar pain are also possible. The diagnosis of pheochromocytoma is based on plasma and/or urine metanephrines and on abdominal imaging as in the case of our patient. Screening is recommended every 5 years from the age of 35.

Conclusion: NF1 is a disease with heterogeneous clinical expression: some NF1 carriers present an uncomplicated profil; but others develop rare complications that can affect every system of the human body, such as pheochromocytoma which is one of these complications.