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摘要
A 56-year-old woman, with a history of a right adrenal phaeochromocytoma excised in 1974, presented to the emergency department in 2008 with a hypertensive crisis characterised by 3 days of severe headache, malignant hypertension (blood pressure, 200/115 mmHg) and seizures complicated by bilateral humeral fractures. After her surgery in 1974, she had unresolved hypertension and raised urinary catecholamine levels suggestive of residual or metastatic disease. However, no additional tumour could be identified despite venous sampling studies. The patient declined further treatment and was lost to follow-up from 1978. She subsequently had three uncomplicated, successful pregnancies.
During the patient's 2008 hospital admission, her levels of urinary catecholamines and plasma metanephrines were elevated (Box 1). She was treated with phenoxybenzamine and diltiazem (extended release), doses of which were titrated up to 60 mg twice daily and 360 mg daily, respectively, before uneventful surgical repair of both humeral fractures.
Localisation studies with a 123 I-metaiodobenzylguanidine scan identified increased tracer uptake within both the left adrenal region and left anterior mediastinum. Computed tomography and magnetic resonance imaging (MRI) scans showed large bilateral renal angiomyolipomas (AMLs), a right renal artery aneurysm, a bulky left adrenal gland with no discrete mass lesion, and a 15mm calcified lesion within the left anterior mediastinum (not related to the sympathetic chain). Results of a positron emission tomography scan were negative. However, an octreotide scan showed mild tracer uptake in the left adrenal region and marked focal uptake within the left anterior mediastinum (Box 2).
It was felt unlikely that the left adrenal gland image represented a phaeochromocytoma and likely that the mediastinal lesion was a phaeo-chromocytoma lymph node metastasis. After the addition of atenolol 100mg daily to the patient's drug regimen, the left anterior mediastinal lesion was excised via a cervical approach without complication. Histological examination confirmed a phaeochromocytoma metastasis within a lymph node. After the operation, blood pressure improved significantly. Plasma metanephrine levels have remained normal for over a year.
Tests for phaeochromocytoma genetic syndromes revealed a missense mutation (Gly144Arg) on exon 2 of the von Hippel Lindau (VHL) gene, and we are awaiting testing of the patient's eight siblings to determine whether or not this is a de novo mutation causing VHL disease. Although two of her three children have inherited the mutation, they have had no disease manifestations. Further investigations of the patient have revealed mild sensorineural hearing loss, but no evidence of haemangioblastomas via fundoscopy or on MRI scanning of the brain and spinal cord. While there is an increased risk of renal cell carcinoma with VHL disease, recent imaging has shown no change in the patient's presumed bilateral AMLs and she has declined surgery or embolisation. The left adrenal gland and right renal artery aneurysm have also remained stable on serial imaging. Malignant phaeochromocytoma has been reported to be a risk factor for osteoporosis,(1) but the patient's bone mineral densitometry showed only osteopaenia of her lumbar spine, while her left hip bone measurements were within normal limits.
- 出版日期2011-1-3
