SDHB-Associated Paraganglioma in a Pediatric Patient and Literature Review on Hereditary Pheochromocytoma-Paraganglioma Syndromes
Pheochromocytoma and paraganglioma are rare in the pediatric population occurring in approximately 1 in 50,000 children. While some cases are sporadic, they have commonly been associated with syndromes such as von Hippel-Lindau, multiple endocrine neoplasia types IIa and IIb, neurofibromatosis type...
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| Format: | Article |
| Language: | English |
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Wiley
2014-01-01
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| Series: | Case Reports in Endocrinology |
| Online Access: | http://dx.doi.org/10.1155/2014/502734 |
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| author | Heather Choat Kerri Derrevere Lisa Knight Whitney Brown Elizabeth H. Mack |
| author_facet | Heather Choat Kerri Derrevere Lisa Knight Whitney Brown Elizabeth H. Mack |
| author_sort | Heather Choat |
| collection | DOAJ |
| description | Pheochromocytoma and paraganglioma are rare in the pediatric population occurring in approximately 1 in 50,000 children. While some cases are sporadic, they have commonly been associated with syndromes such as von Hippel-Lindau, multiple endocrine neoplasia types IIa and IIb, neurofibromatosis type 1, and hereditary pheochromocytoma-paraganglioma syndromes. In children less than 18 years of age approximately 60% of pheochromocytomas and paragangliomas are associated with a germline mutation. We present an 11-year-old child with an abdominal paraganglioma related to a succinate dehydrogenase subunit B gene mutation whose father had a previously resected abdominal paraganglioma and was found to carry the same mutation. In addition, we review the etiology, genetics, diagnostic approach, and challenges of preoperative management of secretory pheochromocytomas and paragangliomas in children. |
| format | Article |
| id | doaj-art-ba750a97681747efa4f4838dc1a573da |
| institution | Kabale University |
| issn | 2090-6501 2090-651X |
| language | English |
| publishDate | 2014-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Endocrinology |
| spelling | doaj-art-ba750a97681747efa4f4838dc1a573da2025-02-03T05:59:25ZengWileyCase Reports in Endocrinology2090-65012090-651X2014-01-01201410.1155/2014/502734502734SDHB-Associated Paraganglioma in a Pediatric Patient and Literature Review on Hereditary Pheochromocytoma-Paraganglioma SyndromesHeather Choat0Kerri Derrevere1Lisa Knight2Whitney Brown3Elizabeth H. Mack4Department of Pediatrics, University of South Carolina School of Medicine, Columbia, SC 29203, USADepartment of Pediatrics, University of South Carolina School of Medicine, Columbia, SC 29203, USADivision of Pediatric Endocrinology, Department of Pediatrics, University of South Carolina School of Medicine, 9 Medical Park Drive, Suite 230A, Columbia, SC 29203, USADivision of Pediatric Endocrinology, Department of Pediatrics, University of South Carolina School of Medicine, 9 Medical Park Drive, Suite 230A, Columbia, SC 29203, USADivision of Pediatric Critical Care, Palmetto Health Children’s Hospital, Columbia, SC 29203, USAPheochromocytoma and paraganglioma are rare in the pediatric population occurring in approximately 1 in 50,000 children. While some cases are sporadic, they have commonly been associated with syndromes such as von Hippel-Lindau, multiple endocrine neoplasia types IIa and IIb, neurofibromatosis type 1, and hereditary pheochromocytoma-paraganglioma syndromes. In children less than 18 years of age approximately 60% of pheochromocytomas and paragangliomas are associated with a germline mutation. We present an 11-year-old child with an abdominal paraganglioma related to a succinate dehydrogenase subunit B gene mutation whose father had a previously resected abdominal paraganglioma and was found to carry the same mutation. In addition, we review the etiology, genetics, diagnostic approach, and challenges of preoperative management of secretory pheochromocytomas and paragangliomas in children.http://dx.doi.org/10.1155/2014/502734 |
| spellingShingle | Heather Choat Kerri Derrevere Lisa Knight Whitney Brown Elizabeth H. Mack SDHB-Associated Paraganglioma in a Pediatric Patient and Literature Review on Hereditary Pheochromocytoma-Paraganglioma Syndromes Case Reports in Endocrinology |
| title | SDHB-Associated Paraganglioma in a Pediatric Patient and Literature Review on Hereditary Pheochromocytoma-Paraganglioma Syndromes |
| title_full | SDHB-Associated Paraganglioma in a Pediatric Patient and Literature Review on Hereditary Pheochromocytoma-Paraganglioma Syndromes |
| title_fullStr | SDHB-Associated Paraganglioma in a Pediatric Patient and Literature Review on Hereditary Pheochromocytoma-Paraganglioma Syndromes |
| title_full_unstemmed | SDHB-Associated Paraganglioma in a Pediatric Patient and Literature Review on Hereditary Pheochromocytoma-Paraganglioma Syndromes |
| title_short | SDHB-Associated Paraganglioma in a Pediatric Patient and Literature Review on Hereditary Pheochromocytoma-Paraganglioma Syndromes |
| title_sort | sdhb associated paraganglioma in a pediatric patient and literature review on hereditary pheochromocytoma paraganglioma syndromes |
| url | http://dx.doi.org/10.1155/2014/502734 |
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