Two Childhood Pheochromocytoma Cases due to von Hippel-Lindau Disease, One Associated with Pancreatic Neuroendocrine Tumor: A Very Rare Manifestation
Two Childhood Pheochromocytoma Cases due to von Hippel-Lindau Disease, One Associated with Pancreatic Neuroendocrine Tumor: A Very Rare Manifestation
von Hippel-Lindau (VHL) disease is an autosomal dominantly inherited disorder, characterized by hemangioblastomas of the retina and central nervous system (CNS); renal cysts; clear cell carcinoma; pheochromocytoma (PCC); endolymphatic sac tumors; cystadenomas of the epididymis in males; broad ligament of uterus in females; pancreatic cysts; cystadenomas; and neuroendocrine tumors. We report two cases of VHL disease that presented with PCC as the first manifestation. Further clinical developments during follow-up, hemangioblastoma of CNS in one case and a pancreatic neuroendocrine tumor (PNET) in the second case led to the diagnosis of VHL disease. Genetic analyses of the two cases revealed p.Arg161Gln (c.482G>A) and p.Leu129Pro (c.386T>G) heterozygous missense mutations in the VHL gene, respectively. In children, PCC may be the only and/or initial manifestation of VHL with delayed manifestations of the syndrome in other organs. PNET is a very rare manifestation of VHL disease. To the best of our knowledge, this is only the second reported case presenting with a combination of a PNET and bilateral PCC as components of childhood VHL disease. Pediatric patients diagnosed with PCC should be investigated for genetic causes and especially for VHL.
- Istanbul University Turkey
- Istanbul University Cerrahpaşa Turkey
- Ege University Turkey
Male, von Hippel-Lindau Disease, hemangioblastoma, Adrenal Gland Neoplasms, Endokrinoloji ve Metabolizma, Case Report, Pheochromocytoma, pheochromocytoma, pancreatic neuroendocrine tumor, Hemangioblastoma, Pancreatic Neoplasms, Neuroendocrine Tumors, Pediatri, Humans, Female, Child, von Hippel-Lindau syndrome
Male, von Hippel-Lindau Disease, hemangioblastoma, Adrenal Gland Neoplasms, Endokrinoloji ve Metabolizma, Case Report, Pheochromocytoma, pheochromocytoma, pancreatic neuroendocrine tumor, Hemangioblastoma, Pancreatic Neoplasms, Neuroendocrine Tumors, Pediatri, Humans, Female, Child, von Hippel-Lindau syndrome
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