Background: Von HippelCLindau (VHL) disease can be an autosomal dominant condition

Background: Von HippelCLindau (VHL) disease can be an autosomal dominant condition seen as a formation of multiple benign and malignant tumors. is certainly proposed. strong course=”kwd-name” Keywords: Falcine meningioma, hemangioblastoma, Von Hippel-Lindau disease Launch Von HippelCLindau (VHL) disease is certainly a uncommon condition due to genetic mutations on chromosome 3,[1,6,12,13] transmitted within an autosomal dominant style with near comprehensive penetrance and seen as a development of multiple benign and malignant tumors, in addition to cysts in multiple organs.[7] Affected patients frequently develop retinal and central nervous system hemangioblastomas (HB), obvious cell renal cell carcinomas (RCC), pheochromocytomas, pancreatic neuroendocrine tumors, and endolymphatic sac tumors (ELSTs).[13] In VHL disease supratentorial lesions, usually HB, are rare and meningiomas are extremely rare.[11] In literature no case of falcine meningioma in VHL has been previously reported. We describe the first case of meningioma located at the third posterior of the falx in a patient with VHL. CASE Statement A 55-year-old Caucasian female patient underwent a suboccipital craniotomy for removal of left order Erastin cerebellar hemisphere HB. Abdominal computed tomography revealed a pheochromocytoma that was excised. Genetic analysis showed the presence of a VHL gene mutation and an evaluation of the family history demonstrated VHL disease in two of the patient’s siblings. Thus this patient’s condition had been diagnosed as VHL disease. Follow-up magnetic resonance imaging (MRI) performed 1 year after the first operation had shown no evidence of recurrence or abnormal findings in the supratentorial region [Figure 1]. However, MRI performed 2 years after the first operation showed a solid mass with strong enhancement in the right cerebellar hemisphere as recurrence and an iperintense solid mass located at posterior section of the falx [Figure 2]. MRI performed at 4 years [Physique 3] revealed slow growth of both lesions order Erastin that were asymptomatic. A frameless stereotactic biopsy with the Leksell Model G stereotactic system (Elekta, Inc., Norcross, GA) order Erastin of falcine lesion was performed. The intra and postoperative histological diagnosis was meningothelial meningioma of World Health Organization Grade 1 [Figure 4]. There were no postoperative complications. The patient decided for clinical and radiological follow-up, temporarily delaying a following definitive surgical or radiotherapical treatment. Open in a separate window Figure 1 One year postoperative axial (a), sagittal (b), a coronal (c) T1-weighted MR images showing no evidence of recurrence or abnormal findings in the supratentorial region Open in a separate window Figure 2 Two years postoperative axial (a and b), sagittal (c and d), a coronal (e) T1-weighted MR images with gadolinium detecting a solid mass with strong enhancement in the right cerebellar hemisphere ( em yellow arrow /em ) and an hyperintense extra-axial solid mass located at posterior section of the falx ( em green arrow /em ) Open in a separate window Figure 3 Four years postoperative axial (a and b), sagittal (c and d), a coronal (e) T1-weighted MR images with gadolinium demonstrating further slow growth of both lesions explained in Physique 2 Open in a separate window Figure 4 Histological images of meningothelial meningioma showing syncytial clusters of meningothelial cells Rabbit Polyclonal to MMP-7 Conversation Melmon and Rosen[14] first proposed clinical criteria for the diagnosis of VHL, recognizing cerebellar HB, the hallmark of Lindau’s tumor. Later Lamiell[10] redefined the clinical diagnosis of VHL including an expanded list of associated visceral tumors, as ELST, RCC, pheochromocytoma, paraganglioma, neuroendocrine neoplasm, and/or multiple cysts of the pancreas. The diagnosis of VHL is made if a patient has at least two central nervous system HB or at least one central nervous system HB and one of the visceral lesions explained above or at least one order Erastin of the visceral lesions previously explained above, and a pathogenic mutation in VHL gene or a first-degree relative with VHL.[1] The incidence of VHL ranges from 1 in 40,000 live births and typically it first manifests in the second decade of life.[3] order Erastin Due to the phenomenon of genetic anticipation, proof progressively previously age of onset and more serious display in successive generations have already been reported.[6,16] Life span in VHL continues to be the cheapest among common inherited tumor syndromes, with a male life span (59.4 years) significantly greater than female (48.4 years) and with HB or RCC as the main reason behind mortality.[13] In 1995, Bleggi-Torres[2] initial reported a case of meningioma in VHL, and in the pertinent literature just other two situations[4,8] have already been previously described.