Adrenal, pancreatic, renal and central nervous system involvement in Von Hippel-Lindau syndrome. A case report
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https://doi.org/10.32818/reccmi.a2n3a3Keywords:
Von Hippel-Lindau disease, bilateral phaeochromocytoma, haemangioblastomaAbstract
A 55 year-old male was referred to Internal Medicine department to monitoring of his bilateral phaeochromocytoma with bilateral adrenalectomy with episodes of unspecific and light headache and cramps. He had elevated urine metanephrine. It was requested a radiological study that demonstrated the presence of multiples pancreatic nodules, multiples and bilaterals renal cyst and multiples central nervous system lesions, at the level of cerebellum and spinal cord. With the mentioned lesion types, it was requested a genetic study to exclude a probably von Hippel-Lindau disease. Finally it was confirmed. At the present time, the lesions remains stables, with the standard levels of urine metanephrine.
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Lonser RR, Glenn GM, Walther M, et al. Von Hippel-Lindau disease. Lancet. 2003; 361: 2059.
Maher ER, Kaelin WG Jr. Von Hippel-Lindau disease. Medicine (Baltimore). 1997; 76: 381.
Wanebo JE, Lonser RR, Glenn GM, Oldfield EH. The natural history of hemangioblastomas of the central nervous system in patients with von Hippel-Lindau disease. J Neurosurg. 2003; 98: 82.
Choyke PL, Glenn GM, Walther MM, et al. The natural history of renal lesions in von Hippel-Lindau disease: a serial CT study in 28 patients. AJR Am J Roentgenol. 1992; 159: 1229.
Hammel PR, Vilgrain V, Terris B, et al. Pancreatic involvement in von Hippel- Lindau disease. The Group Francophone d'Etude de la Maladie de von Hippel-Lindau. Gastroenterology. 2000; 119: 1087.
Reddy VS, O´Neill JA Jr, Holcomb GW 3rd, et al. Twenty-five-year surgical experience with pheochromocytoma in children. Am Surg. 2000; 66: 1085.
Zbar B, Kishida T, Chen F, et al. Germline mutations in the von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. Hum Mutat. 1996; 8: 348.
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