2014
Brainstem melanomas presenting as a cavernous malformation
Lu AY, Patel AR, Kuzmik GA, Atsina K, Bronen RA, Jabbour PM, Hasan DM, Vortmeyer AO, Welch BG, Bulsara KR. Brainstem melanomas presenting as a cavernous malformation. Neurochirurgie 2014, 60: 184-187. PMID: 24856047, DOI: 10.1016/j.neuchi.2014.02.005.Peer-Reviewed Case Reports and Technical NotesMeSH KeywordsAgedBrain Stem NeoplasmsDiagnosis, DifferentialFatal OutcomeFemaleHemangioma, Cavernous, Central Nervous SystemHumansIntracranial HemorrhagesMaleMelanomaMiddle AgedNeoplasm MetastasisPrognosisRadiosurgeryTreatment OutcomeConceptsCavernous malformationsClinical courseWhole-brain radiation therapyAcute pontine hemorrhageRight dorsal midbrainWhole brain radiationAggressive clinical courseRepeat hemorrhageMelanoma presentingSurgical resectionBrainstem hemorrhagePontine hemorrhagePoor prognosisTreatment modalitiesHemorrhagic lesionsRadiation therapyDorsal midbrainStereotactic radiosurgeryMelanoma lesionsLesionsHemorrhageMelanomaMalformationsResectionBrainstem
2007
A novel syndrome of cerebral cavernous malformation and Greig cephalopolysyndactyly. Laboratory investigation.
Bilguvar K, Bydon M, Bayrakli F, Ercan-Sencicek AG, Bayri Y, Mason C, DiLuna ML, Seashore M, Bronen R, Lifton RP, State M, Gunel M. A novel syndrome of cerebral cavernous malformation and Greig cephalopolysyndactyly. Laboratory investigation. Journal Of Neurosurgery 2007, 107: 495-9. PMID: 18154020, DOI: 10.3171/ped-07/12/495.Peer-Reviewed Original ResearchMeSH KeywordsAbnormalities, MultipleCarrier ProteinsChild, PreschoolChromosome DeletionChromosomes, Human, Pair 7Craniofacial AbnormalitiesDNAFemaleGene DosageHemangioma, Cavernous, Central Nervous SystemHeterozygoteHumansKruppel-Like Transcription FactorsNerve Tissue ProteinsOligonucleotide Array Sequence AnalysisReverse Transcriptase Polymerase Chain ReactionSyndromeZinc Finger Protein Gli3ConceptsGreig cephalopolysyndactyly syndromeCerebral cavernous malformationsDeleterious genetic variantsComparative genome hybridization analysisChromosome 7pArray-based CGHGene GLI3Distinct genesMultiple genesGenetic analysisGenomic DNANovel syndromeGenomic lesionsChromosome 7Contiguous gene syndromeQuantitative real-time polymerase chain reactionQuantitative RT-PCRGli3Hybridization analysis