caa a22 4500 445356286 CHVBK 20180317142901.0 cr unu---uuuuu 170323e20110601xx s 000 0 eng 10.1007/s10072-011-0502-y doi (NATIONALLICENCE)springer-10.1007/s10072-011-0502-y A case of carotid body paraganglioma and haemangioblastoma of the spinal cord in a patient with the N131K missense mutation in the VHL gene [Elektronische Daten] [Krzysztof Majchrzak, Cezary Cybulski, Barbara Bobek-Billewicz, Henryk Majchrzak, Jan Lubiński] The article describes paraganglioma case in woman with von Hippel-Lindau disease. She was found to be a carrier of a rare germline mutation in the VHL gene (393C>A; N131K). The patient developed large, untypical for von Hippel-Lindau disease, carotid body paraganglioma at the common carotid artery bifurcation. The carotid body paraganglioma coexisted with the haemangioblastoma situated intramedullary in region C5/C6. The haemangioblastoma reached the right-sided dorsal part of the spinal cord in section C5/C6. It produced radicular symptoms within C5/C6, followed by the later paresis of the right limbs. The haemangioblastoma was resected completely. Twelve months after the operation, the spinal symptoms receded and the carotid body paraganglioma still was asymptomatic. The current case of carotid body paraganglioma in patient with the 393C>A (N131K) missense mutation in the VHL gene, supports association of this specific mutation and VHL disease type 2, and suggests its correlation with susceptibility to paragangliomas. The Author(s), 2011 Von Hippel-Lindau disease nationallicence Carotid body paraganglioma nationallicence Intramedullary haemangioblastoma nationallicence Majchrzak Krzysztof Katedra i Oddział Kliniczny Neurochirurgii, Wojewódzki Szpital Specjalistyczny im, Św. Barbary Nr.5, ul. Plac Medyków 1, 41-200, Sosnowiec, Poland aut Cybulski Cezary International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland aut Bobek-Billewicz Barbara Radiodiagnostics Department, Comprehensive Cancer Centre, Maria Sklodowska-Curie, Memorial Institute Branch Gliwice, Gliwice, Poland aut Majchrzak Henryk Katedra i Oddział Kliniczny Neurochirurgii, Wojewódzki Szpital Specjalistyczny im, Św. Barbary Nr.5, ul. Plac Medyków 1, 41-200, Sosnowiec, Poland aut Lubiński Jan International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland aut Neurological Sciences Springer Milan 32/3(2011-06-01), 491-496 1590-1874 32:3<491 2011 32 10072 https://doi.org/10.1007/s10072-011-0502-y text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10072-011-0502-y text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Majchrzak Krzysztof Katedra i Oddział Kliniczny Neurochirurgii, Wojewódzki Szpital Specjalistyczny im, Św. Barbary Nr.5, ul. Plac Medyków 1, 41-200, Sosnowiec, Poland aut NATIONALLICENCE 700 1- Cybulski Cezary International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland aut NATIONALLICENCE 700 1- Bobek-Billewicz Barbara Radiodiagnostics Department, Comprehensive Cancer Centre, Maria Sklodowska-Curie, Memorial Institute Branch Gliwice, Gliwice, Poland aut NATIONALLICENCE 700 1- Majchrzak Henryk Katedra i Oddział Kliniczny Neurochirurgii, Wojewódzki Szpital Specjalistyczny im, Św. Barbary Nr.5, ul. Plac Medyków 1, 41-200, Sosnowiec, Poland aut NATIONALLICENCE 700 1- Lubiński Jan International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland aut NATIONALLICENCE 773 0- Neurological Sciences Springer Milan 32/3(2011-06-01), 491-496 1590-1874 32:3<491 2011 32 10072 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer