Bilateral pheochromocytoma as first manifestation of von Hippel-Lindau disease: A case report

ArticleinThe Turkish journal of pediatrics 54(5):532-5 · February 2013with6 Reads
Source: PubMed
Von Hippel-Lindau syndrome is an autosomal dominant disorder that includes susceptibility to hemangioblastomas of the eyes and central nervous system, renal clear cell carcinoma, multiple pancreatic cysts, serous cystadenomas and pancreatic neuroendocrine tumors, pheochromocytoma, endolymphatic sac tumors, and cystadenomas of the epididymis and broad ligament. We present a 16-year-old male who had been followed for having bilateral adrenal, and in addition, extraadrenal multifocal pheochromocytoma for six years. At the age of 16, he presented with bilateral retinal hemangioblastomas, which led to the diagnosis of von Hippel-Lindau disease type 2A confirmed by genetic analysis. The patient's mother also had bilateral adrenal pheochromocytoma with no other von Hippel Lindau-associated tumor. In children, pheochromocytoma may be the only and/or initial manifestation of the disease with delayed manifestations of the syndrome in other organs. Von Hippel-Lindau disease is a complex multidisciplinary disorder that requires well-coordinated medical care. Surveillance of these patients and asymptomatic relatives may prevent morbidity and mortality and improve long- term prognosis. Molecular analysis of the von Hippel-Lindau gene is useful for early diagnosis of the disease in individuals who do not yet fulfill the clinical diagnostic criteria and is instrumental in the management and follow-up of the affected family.
    • "The tumors of the adrenals described most frequently with a cystic component in children and young adults are: neuroblastoma, ganglioneuroma, pheocromocytoma, teratoma, and, exceptionally, adrenocortical carcinoma/ adenoma [68,69,70] Pheochromocytoma may suffer necrosis and the tumor become semicystic or semisolid [71]. The cystic aspect has been found in bilaterally, familial, genetic conditions as von Hippel-Lindau disease including hemangioblastomas, pancreatic cysts, renal cancer (autosomal dominant inheritance) [72]. In pediatric population, the adrenal tumor may be the only or the first manifestation of the syndrome [73]. "
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