Early-Onset Isolated Bilateral Pheochromocytoma As a Major Clinical Manifestation of von-Hippel Lindau Syndrome Type 2C
Pheochromocytoma is a rare disease that is characterized by the increased production and secretion of catecholamines from the adrenal medulla. The disease is autosomal dominant, and frequently sporadic and unilateral. Pheochromocytoma, which is diagnosed during childhood, mostly arises as a part of...
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| Format: | Article |
| Language: | English |
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Galenos Yayinevi
2018-03-01
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| Series: | Journal of Pediatric Research |
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| Online Access: | http://jpedres.org/archives/archive-detail/article-preview/early-onset-solated-bilateral-pheochromocytoma-as-/16903 |
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| author | Sezer Acar Hale Tuhan Korcan Demir Ayça Aykut Asude Durmaz Ünal Utku Karaarslan Gözde İnci Oğuz Ateş Ece Böber Ayhan Abacı |
| author_facet | Sezer Acar Hale Tuhan Korcan Demir Ayça Aykut Asude Durmaz Ünal Utku Karaarslan Gözde İnci Oğuz Ateş Ece Böber Ayhan Abacı |
| author_sort | Sezer Acar |
| collection | DOAJ |
| description | Pheochromocytoma is a rare disease that is characterized by the increased production and secretion of catecholamines from the adrenal medulla. The disease is autosomal dominant, and frequently sporadic and unilateral. Pheochromocytoma, which is diagnosed during childhood, mostly arises as a part of cancer susceptibility syndromes. Among these syndromes, von-Hippel Lindau (VHL) syndrome is dominantly inherited, and is frequently identified in childhood pheochromocytoma. VHL syndrome is clinically characterized with hemangioblastomas of the central nervous system and retina, renal cell carcinoma, and pheochromocytoma, and has been demonstrated to have a strong genotype-phenotype correlation. In this case report, we presented an 11-year-old male who was found to have early-onset isolated bilateral pheochromocytoma and V84L mutation in VHL. We aimed to emphasize that this rarely reported mutation is associated with VHL Type 2C that classically manifests with early-onset isolated bilateral pheochromocytoma. |
| first_indexed | 2024-04-10T11:16:19Z |
| format | Article |
| id | doaj.art-faa22e7242e443b8858f231214b7a228 |
| institution | Directory Open Access Journal |
| issn | 2147-9445 |
| language | English |
| last_indexed | 2024-04-10T11:16:19Z |
| publishDate | 2018-03-01 |
| publisher | Galenos Yayinevi |
| record_format | Article |
| series | Journal of Pediatric Research |
| spelling | doaj.art-faa22e7242e443b8858f231214b7a2282023-02-15T16:18:50ZengGalenos YayineviJournal of Pediatric Research2147-94452018-03-0151485110.4274/jpr.58661Early-Onset Isolated Bilateral Pheochromocytoma As a Major Clinical Manifestation of von-Hippel Lindau Syndrome Type 2CSezer Acar0Hale Tuhan1Korcan Demir2Ayça Aykut3Asude Durmaz4Ünal Utku Karaarslan5Gözde İnci6Oğuz Ateş7Ece Böber8Ayhan Abacı9Dokuz Eylül University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Endocrinology, İzmir, TurkeyDokuz Eylül University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Endocrinology, İzmir, TurkeyDokuz Eylül University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Endocrinology, İzmir, TurkeyEge University Faculty of Medicine, Department of Medical Genetics, İzmir, TurkeyEge University Faculty of Medicine, Department of Medical Genetics, İzmir, TurkeyDokuz Eylül University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Intensive Care Unit, İzmir, TurkeyDokuz Eylül University Faculty of Medicine, Department of Pediatrics, İzmir, TurkeyDokuz Eylül University Faculty of Medicine, Department of Pediatric Surgery, İzmir, TurkeyDokuz Eylül University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Endocrinology, İzmir, TurkeyDokuz Eylül University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Endocrinology, İzmir, TurkeyPheochromocytoma is a rare disease that is characterized by the increased production and secretion of catecholamines from the adrenal medulla. The disease is autosomal dominant, and frequently sporadic and unilateral. Pheochromocytoma, which is diagnosed during childhood, mostly arises as a part of cancer susceptibility syndromes. Among these syndromes, von-Hippel Lindau (VHL) syndrome is dominantly inherited, and is frequently identified in childhood pheochromocytoma. VHL syndrome is clinically characterized with hemangioblastomas of the central nervous system and retina, renal cell carcinoma, and pheochromocytoma, and has been demonstrated to have a strong genotype-phenotype correlation. In this case report, we presented an 11-year-old male who was found to have early-onset isolated bilateral pheochromocytoma and V84L mutation in VHL. We aimed to emphasize that this rarely reported mutation is associated with VHL Type 2C that classically manifests with early-onset isolated bilateral pheochromocytoma.http://jpedres.org/archives/archive-detail/article-preview/early-onset-solated-bilateral-pheochromocytoma-as-/16903Pheochromocytomavon-Hippel Lindau syndromehemangioblastoma |
| spellingShingle | Sezer Acar Hale Tuhan Korcan Demir Ayça Aykut Asude Durmaz Ünal Utku Karaarslan Gözde İnci Oğuz Ateş Ece Böber Ayhan Abacı Early-Onset Isolated Bilateral Pheochromocytoma As a Major Clinical Manifestation of von-Hippel Lindau Syndrome Type 2C Journal of Pediatric Research Pheochromocytoma von-Hippel Lindau syndrome hemangioblastoma |
| title | Early-Onset Isolated Bilateral Pheochromocytoma As a Major Clinical Manifestation of von-Hippel Lindau Syndrome Type 2C |
| title_full | Early-Onset Isolated Bilateral Pheochromocytoma As a Major Clinical Manifestation of von-Hippel Lindau Syndrome Type 2C |
| title_fullStr | Early-Onset Isolated Bilateral Pheochromocytoma As a Major Clinical Manifestation of von-Hippel Lindau Syndrome Type 2C |
| title_full_unstemmed | Early-Onset Isolated Bilateral Pheochromocytoma As a Major Clinical Manifestation of von-Hippel Lindau Syndrome Type 2C |
| title_short | Early-Onset Isolated Bilateral Pheochromocytoma As a Major Clinical Manifestation of von-Hippel Lindau Syndrome Type 2C |
| title_sort | early onset isolated bilateral pheochromocytoma as a major clinical manifestation of von hippel lindau syndrome type 2c |
| topic | Pheochromocytoma von-Hippel Lindau syndrome hemangioblastoma |
| url | http://jpedres.org/archives/archive-detail/article-preview/early-onset-solated-bilateral-pheochromocytoma-as-/16903 |
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