Von Recklinghausen's neurofibromatosis: Neurofibromatosis type 1

A 56-year-old man with widespread skin neurofibromas since age 19 years was referred for investigation after he had visited the surgical outpatient department requesting excision of a large neurofibroma. His mother, who died aged 72 years, his 48-year-old living brother, and his son, who died aged 12 years from a cerebral tumour, also had neurofibromatosis. On examination, there were extensive skin neurofibromas, axillary freckling, and cafe-au-lait spots (figure 1). He was normotensive and repeated blood pressure recordings were below 130/80 mm Hg. 24-h urine specimen showed raised metanephrine concentrations of 21[middot]3 [mu]mol per 24 h (0[middot]3-1[middot]7) and normetanephrine concentrations of 26[middot]3 [mu]mol per 24 h (0[middot]4-3[middot]4). Serum calcium, phosphate, and calcitonin were normal. An abdominal CT scan showed a 4x4 cm left adrenal mass. CT and MRI imaging of the brain and a thoracic CT scan were normal. Von Recklinghausen's neurofibromatosis was diagnosed with associated phaeochromocytoma. The patient was prepared for surgery with a blockade (phenoxybenzamine 10 mg, twice daily) and [beta] blockade (propranolol 40 mg, thrice daily) to maintain a blood | pressure of 120/70-130/80 mm Hg. To control blood pressure during surgery, sodium nitroprusside infusion was given during anaesthesia, intubation, and tumour handling. A well circumscribed encapsulated tumour weighing 54 g and measuring I 5 cmx5 cmx4 cm was excised. Subsequent histological examination showed an adrenal gland paraganglioma (phaeochromocytoma) with no evidence of capsular or vascular invasion. The patient made a good recovery and when last seen 24 months after surgery, did not need antihypertensive medication.