Congenital Cystic Hemangioblastomas of the Cerebral Hemisphere in a Neonate without Alteration in the VHL Gene
| Autor: | Scott D. Wait, Mahlon D. Johnson, Robert J. Weil, Deb A. Bhowmick, Joseph M. Aulino, E. Christopher Troup, Zhengping Zhuang, Alex R. Mitchell |
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| Rok vydání: | 2004 |
| Předmět: |
Pathology
medicine.medical_specialty Tumor suppressor gene business.industry Fontanelle General Medicine medicine.disease Lethargy medicine.anatomical_structure Hemangioblastoma Pediatrics Perinatology and Child Health Cerebral hemisphere Medicine Surgery Cyst Neurology (clinical) Von Hippel–Lindau disease business Pathological |
| Zdroj: | Pediatric Neurosurgery. 40:124-127 |
| ISSN: | 1423-0305 1016-2291 |
| Popis: | A 4-week-old child presented with lethargy, emesis, decreased spontaneous movements, and a bulging fontanelle. Neuroimaging demonstrated a large, hemispheric, multicystic lesion with multiple enhancing nodules, which, on pathological examination, proved to be multiple, distinct hemangioblastomas. Careful molecular analysis failed to reveal alterations of the VHL gene. This represents an uncommon presentation for these tumors and suggests that genes other than VHL may be important in the genesis of these tumors. |
| Databáze: | OpenAIRE |
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