(Gly144Arg)
A case report of a woman with VHL presenting with a malignant pheochromocytoma at the age of 22 was described. 34 years later, she presented to the emergency department in 2008 with a hypertensive crisis characterized by 3 days of severe headache, malignant hypertension and seizures complicated by bilateral humeral fractures. 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 15 mm calcified lesion within the left anterior mediastinum (not related to the sympathetic chain). Histological examination confirmed a pheochromocytoma metastasis within a lymph node. After the operation, blood pressure improved significantly. Further investigations of the patient have revealed mild sensorineural hearing loss. No evidence of hemangioblastomas via fundoscopy or on MRI scanning of the brain and spinal cord. Recent imaging has shown no change in the patient's presumed bilateral AMLs indicating the absence of renal cell carcinoma. The patient was found to carry the germline mutation Gly144Arg of the VHL gene. Two of her three children have inherited the mutation, they have had no disease manifestations.