Von Hippel-Lindau Syndrome: Diagnosis and Management of Hemangioblastoma and Pheochromocytoma
Introduction. Von Hippel-Lindau (VHL) syndrome is a pathological condition that causes various clinical symptoms and is difficult to diagnose. The most common pathological lesions are hemangioblastomas of the central nervous system, retinal angiomas, renal clear cell carcinomas, and pheochromocytoma...
Saved in:
| Main Authors: | , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2013-01-01
|
| Series: | Case Reports in Urology |
| Online Access: | http://dx.doi.org/10.1155/2013/624096 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850120617995534336 |
|---|---|
| author | P. Vaganovs K. Bokums E. Miklaševics J. Plonis L. Zarina I. Geldners J. Gardovskis E. Vjaters |
| author_facet | P. Vaganovs K. Bokums E. Miklaševics J. Plonis L. Zarina I. Geldners J. Gardovskis E. Vjaters |
| author_sort | P. Vaganovs |
| collection | DOAJ |
| description | Introduction. Von Hippel-Lindau (VHL) syndrome is a pathological condition that causes various clinical symptoms and is difficult to diagnose. The most common pathological lesions are hemangioblastomas of the central nervous system, retinal angiomas, renal clear cell carcinomas, and pheochromocytomas. Case Report. A 23-year-old female had a syncope episode in 2008. Magnetic resonance imaging (MRI) revealed a right temporal hemangioblastoma, which was treated surgically. Genetic screening identified a VHL gene mutation, and computed tomography (CT) revealed a left adrenal mass. Since it was unclear whether the mass was a pheochromocytoma, or another benign or malignant tumors, laparoscopic adrenalectomy was performed. A month after surgery, the patient complained of general fatigue, poor concentration, loss of appetite, and insomnia. After careful clinical investigation, the patient was referred to a psychiatrist due to suspected depression, which was confirmed. Conclusions. VHL genetic screening should be performed in cases of hemangioblastoma. In VHL syndrome cases, pheochromocytoma cannot always be diagnosed by biochemical catecholamine analyses; therefore, CT or MRI scanning of the abdomen must be performed. Due to the long treatment period, some patients may develop episodes of depression, which can simulate VHL syndrome. |
| format | Article |
| id | doaj-art-60de76ed4f62449bb810a06d07db8174 |
| institution | OA Journals |
| issn | 2090-696X 2090-6978 |
| language | English |
| publishDate | 2013-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Urology |
| spelling | doaj-art-60de76ed4f62449bb810a06d07db81742025-08-20T02:35:19ZengWileyCase Reports in Urology2090-696X2090-69782013-01-01201310.1155/2013/624096624096Von Hippel-Lindau Syndrome: Diagnosis and Management of Hemangioblastoma and PheochromocytomaP. Vaganovs0K. Bokums1E. Miklaševics2J. Plonis3L. Zarina4I. Geldners5J. Gardovskis6E. Vjaters7Clinic of Urology, Pauls Stradins Clinical University Hospital, Pilsonu Street 13, Riga Latvia, LV-1002, LatviaClinic of Urology, Pauls Stradins Clinical University Hospital, Pilsonu Street 13, Riga Latvia, LV-1002, LatviaClinic of Urology, Pauls Stradins Clinical University Hospital, Pilsonu Street 13, Riga Latvia, LV-1002, LatviaClinic of Urology, Pauls Stradins Clinical University Hospital, Pilsonu Street 13, Riga Latvia, LV-1002, LatviaClinic of Urology, Pauls Stradins Clinical University Hospital, Pilsonu Street 13, Riga Latvia, LV-1002, LatviaClinic of Urology, Pauls Stradins Clinical University Hospital, Pilsonu Street 13, Riga Latvia, LV-1002, LatviaClinic of Urology, Pauls Stradins Clinical University Hospital, Pilsonu Street 13, Riga Latvia, LV-1002, LatviaClinic of Urology, Pauls Stradins Clinical University Hospital, Pilsonu Street 13, Riga Latvia, LV-1002, LatviaIntroduction. Von Hippel-Lindau (VHL) syndrome is a pathological condition that causes various clinical symptoms and is difficult to diagnose. The most common pathological lesions are hemangioblastomas of the central nervous system, retinal angiomas, renal clear cell carcinomas, and pheochromocytomas. Case Report. A 23-year-old female had a syncope episode in 2008. Magnetic resonance imaging (MRI) revealed a right temporal hemangioblastoma, which was treated surgically. Genetic screening identified a VHL gene mutation, and computed tomography (CT) revealed a left adrenal mass. Since it was unclear whether the mass was a pheochromocytoma, or another benign or malignant tumors, laparoscopic adrenalectomy was performed. A month after surgery, the patient complained of general fatigue, poor concentration, loss of appetite, and insomnia. After careful clinical investigation, the patient was referred to a psychiatrist due to suspected depression, which was confirmed. Conclusions. VHL genetic screening should be performed in cases of hemangioblastoma. In VHL syndrome cases, pheochromocytoma cannot always be diagnosed by biochemical catecholamine analyses; therefore, CT or MRI scanning of the abdomen must be performed. Due to the long treatment period, some patients may develop episodes of depression, which can simulate VHL syndrome.http://dx.doi.org/10.1155/2013/624096 |
| spellingShingle | P. Vaganovs K. Bokums E. Miklaševics J. Plonis L. Zarina I. Geldners J. Gardovskis E. Vjaters Von Hippel-Lindau Syndrome: Diagnosis and Management of Hemangioblastoma and Pheochromocytoma Case Reports in Urology |
| title | Von Hippel-Lindau Syndrome: Diagnosis and Management of Hemangioblastoma and Pheochromocytoma |
| title_full | Von Hippel-Lindau Syndrome: Diagnosis and Management of Hemangioblastoma and Pheochromocytoma |
| title_fullStr | Von Hippel-Lindau Syndrome: Diagnosis and Management of Hemangioblastoma and Pheochromocytoma |
| title_full_unstemmed | Von Hippel-Lindau Syndrome: Diagnosis and Management of Hemangioblastoma and Pheochromocytoma |
| title_short | Von Hippel-Lindau Syndrome: Diagnosis and Management of Hemangioblastoma and Pheochromocytoma |
| title_sort | von hippel lindau syndrome diagnosis and management of hemangioblastoma and pheochromocytoma |
| url | http://dx.doi.org/10.1155/2013/624096 |
| work_keys_str_mv | AT pvaganovs vonhippellindausyndromediagnosisandmanagementofhemangioblastomaandpheochromocytoma AT kbokums vonhippellindausyndromediagnosisandmanagementofhemangioblastomaandpheochromocytoma AT emiklasevics vonhippellindausyndromediagnosisandmanagementofhemangioblastomaandpheochromocytoma AT jplonis vonhippellindausyndromediagnosisandmanagementofhemangioblastomaandpheochromocytoma AT lzarina vonhippellindausyndromediagnosisandmanagementofhemangioblastomaandpheochromocytoma AT igeldners vonhippellindausyndromediagnosisandmanagementofhemangioblastomaandpheochromocytoma AT jgardovskis vonhippellindausyndromediagnosisandmanagementofhemangioblastomaandpheochromocytoma AT evjaters vonhippellindausyndromediagnosisandmanagementofhemangioblastomaandpheochromocytoma |