| Autor: |
Sezer Acar, Hale Tuhan, Korcan Demir, Ayça Aykut, Asude Durmaz, Ünal Utku Karaarslan, Gözde İnci, Oğuz Ateş, Ece Böber, Ayhan Abacı |
| Jazyk: |
English<br />Turkish |
| Rok vydání: |
2018 |
| Předmět: |
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| Zdroj: |
Journal of Pediatric Research, Vol 5, Iss 1, Pp 48-51 (2018) |
| Druh dokumentu: |
article |
| ISSN: |
2147-9445 |
| DOI: |
10.4274/jpr.58661 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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