Bilateral pheochromocytoma as first manifestation of von Hippel-Lindau disease: a case report
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, endolymphat...
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| Format: | Article |
| Language: | English |
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Hacettepe University Institute of Child Health
2012-10-01
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| Series: | The Turkish Journal of Pediatrics |
| Online Access: | https://turkjpediatr.org/article/view/1682 |
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| author | Gönül Catli Ayhan Abaci H C Hartmut Neumann Ayça Altincik Korcan Demir Ece Böber |
| author_facet | Gönül Catli Ayhan Abaci H C Hartmut Neumann Ayça Altincik Korcan Demir Ece Böber |
| author_sort | Gönül Catli |
| collection | DOAJ |
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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.
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| format | Article |
| id | doaj-art-10c080df2ed742979af05a02b72ed1ae |
| institution | OA Journals |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2012-10-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-10c080df2ed742979af05a02b72ed1ae2025-08-20T02:01:53ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212012-10-01545Bilateral pheochromocytoma as first manifestation of von Hippel-Lindau disease: a case reportGönül Catli0Ayhan AbaciH C Hartmut NeumannAyça AltincikKorcan DemirEce BöberDivision of Pediatric Endocrinology, Department of Pediatrics, Dokuz Eyliil University Faculty of Medicine, Izmir, Turkey. gonulcatli@gmail.com 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. https://turkjpediatr.org/article/view/1682 |
| spellingShingle | Gönül Catli Ayhan Abaci H C Hartmut Neumann Ayça Altincik Korcan Demir Ece Böber Bilateral pheochromocytoma as first manifestation of von Hippel-Lindau disease: a case report The Turkish Journal of Pediatrics |
| title | Bilateral pheochromocytoma as first manifestation of von Hippel-Lindau disease: a case report |
| title_full | Bilateral pheochromocytoma as first manifestation of von Hippel-Lindau disease: a case report |
| title_fullStr | Bilateral pheochromocytoma as first manifestation of von Hippel-Lindau disease: a case report |
| title_full_unstemmed | Bilateral pheochromocytoma as first manifestation of von Hippel-Lindau disease: a case report |
| title_short | Bilateral pheochromocytoma as first manifestation of von Hippel-Lindau disease: a case report |
| title_sort | bilateral pheochromocytoma as first manifestation of von hippel lindau disease a case report |
| url | https://turkjpediatr.org/article/view/1682 |
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