Neurofibromatosis type 1 (von Recklinghausen's disease), lower abdominal tumour and hypertension in a young woman

History and admission findings: A 38-year-old woman, known to have type 1 n eurofibromatosis (NF1; von Recklinghausen's disease) and recurrence of a ma lignant haemangiopericytoma in the lower abdomen developed hypertension. Sh e also had headaches and marked perspiration. Physical examination revealed tachycardia and paleness of the distal digits, in addition to multiple neu rofibromas and cafe-au-lait spots. Investigations: A tumour was found in the region of the right adrenal gland , in addition to the known haemangiopericytoma. The levels of epinephrine a nd dopamine were elevated, suggesting an orthotopic phaeochromocytoma as th e cause of the hypertension. Mutation analysis confirmed the neurofibromato sis by demonstrating a splice mutation of the NF1 gene in exon 8. She also was found to have emphysema of the right upper and middle lobes of the lung . Treatment and course: Because of the extensive local changes the recurrent haemangiopericytoma was only partially resected. At the same time a right a drenalectomy was performed without complication. However, the patient's pos toperative recovery was slow, but she was now normotensive. Planned radioth erapy was omitted because of her poor general state. Instead she was given weekly palliative chemotherapy with adriamycin, with little improvement. Sh e died several weeks later from the malignancy. Conclusion: This case emphasizes that in a patient with NF1 a phaeochromocy toma must be considered as a possible cause of hypertension. It is likely t hat the patient's emphysema was associated with the NF1, while the haemangi opericytoma was presumably unconnected with the NF1.