Neurofibromatosis type 1 and phaeochromocytoma – a clinical case report
Keywords:
neurofibromatosis type 1, phaeochromocytoma, arterial hypertensionAbstract
The authors present a case of a 49-year-old man, referred to the
Emergency Department with headache, palpitations, abdominal
pain and nausea. He had a past medical history of neurofibromatosis type 1 (NF1) and hypertension. On examination there
was intense perspiration, blood pressure 240/173 mmHg and
tachycardia. Laboratory findings revealed raised metanephrines
in the 24-h urine specimen and imaging tests displayed a solid
nodule in the left adrenal gland. Further evaluation led to the
diagnosis of phaeochromocytoma. After appropriate pre-surgery
therapy, a left adrenalectomy was performed. On follow up, 6
months after surgery, the patient was asymptomatic with good
blood pressure control.
The reason for presenting this case is not only its rarity since
phaeochromocytoma occurs in only 1% of NF1 patients, but also
to point out the need to look for specific causes of hypertension
in young patients, mainly those with NF1.
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