Imaging clinical case

  • Ana Rita Batista Unit of Pediatric Nephrology, Department of Pediatrics, Centro Materno-Infantil do Norte. Centro Hospitalar Universitário do Porto
  • Catarina Valpaços Unit of Pediatric Nephrology, Department of Pediatrics, Centro Materno Infantil do Norte. Centro Hospitalar do Porto
  • Pedro Sousa Unit of Pediatric Nephrology, Department of Pediatrics, Centro Materno Infantil do Norte. Centro Hospitalar do Porto
  • Teresa Costa Unit of Pediatric Nephrology, Department of Pediatrics, Centro Materno Infantil do Norte. Centro Hospitalar do Porto
  • Conceição Mota Unit of Pediatric Nephrology, Department of Pediatrics, Centro Materno Infantil do Norte. Centro Hospitalar do Porto
  • Armando Reis Unit of Pediatric Urology, Centro Hospitalar do Porto
  • Maria Sameiro Faria Unit of Pediatric Nephrology, Department of Pediatrics, Centro Materno Infantil do Norte. Centro Hospitalar do Porto
Keywords: Hemangioblastoma of the central nervous system, renal cell carcinoma hemovitreous, Von Hippel-Lindau

Abstract

Here in is reported the case of a 16-year-old female diagnosed with vitreous haemorrhage and hemangioblastoma of the retina, referred to the Emergency Department due to sudden vision loss. Brain and pelvic magnetic resonance imaging showed cerebellar hemangioblastomas and renal nodular lesions of suspicious nature. The patient was submitted to partial left nephrectomy and histological examination revealed papillary renal cell carcinoma with clear-cell predominance. Clinical diagnosis of Von Hippel-Lindau (VHL) disease was confirmed by genetic study.
VHL disease is a hereditary, autosomal dominant syndrome of multiple neoplasms caused by germline mutations in VHL tumor-suppressor gene. Patients are predisposed to development of cysts and hypervascular neoplasms, the most common being hemangioblastomas of the central nervous system (CNS) and retina, cysts and renal cell carcinomas, and pheochromocytomas. VHL diagnosis should be suspected if an individual with family history of VHL presents with a characteristic disease lesion or, in absence of family history of VHL, with two CNS and/or retinal hemangioblastomas or a CNS/retinal hemangioblastoma associated with renal cell carcinoma, pheochromocytoma, pancreatic cysts or endocrine tumor, or epididymal cystadenoma. In VHL disease, imaging plays a key role in detection of abnormalities, follow-up, and screening of asymptomatic mutated gene carriers.

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Published
2020-03-24
How to Cite
Batista, A. R., Valpaços, C., Sousa, P., Costa, T., Mota, C., Reis, A., & Faria, M. S. (2020). Imaging clinical case. NASCER E CRESCER - BIRTH AND GROWTH MEDICAL JOURNAL, 29(1), 62-64. https://doi.org/10.25753/BirthGrowthMJ.v29.i1.18021
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