China
Africa
Explore chapters and articles related to this topic
Tumors of the Nervous System
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
Von Hippel–Lindau disease (VHL) is an inherited, autosomal dominant disorder associated with specific tumors in multiple organs including the retina, brain, spinal cord, pancreas, adrenal gland, kidney, epididymis, and endolymphatic sac.
Renal Cancer
Published in Manit Arya, Taimur T. Shah, Jas S. Kalsi, Herman S. Fernando, Iqbal S. Shergill, Asif Muneer, Hashim U. Ahmed, MCQs for the FRCS(Urol) and Postgraduate Urology Examinations, 2020
Nilay Patel (deceased), Vinodh Murali, David Cranston
Von Hippel-Lindau disease is associated with mutations on which gene locus?1q423p257q319q3417p11
Non-Vestibular Schwannoma Tumours of the Cerebellopontine Angle
Published in John C Watkinson, Raymond W Clarke, Christopher P Aldren, Doris-Eva Bamiou, Raymond W Clarke, Richard M Irving, Haytham Kubba, Shakeel R Saeed, Paediatrics, The Ear, Skull Base, 2018
Simon K.W. Lloyd, Scott A. Rutherford
Endolymphatic sac tumours are rare low-grade adenocarcinomas of the endolymphatic sac.121,122 Twenty per cent are sporadic but most are associated with Von Hippel Lindau Disease (4% of patients with this condition have endolymphatic sac tumours).123 They are slow growing but locally destructive and rarely metastasize. Their presentation is similar to that of other CPA lesions. CT shows bony destruction centred on the endolymphatic sac. They have heterogenous increased signal on both T1 and T2-weighted imaging with patchy enhancement with gadolinium (Figure 105.7). Treatment is by wide local resection via retrolabyrinthine, translabyrinthine or retrosigmoid approaches. Cure can be achieved in 90% of moderate sized tumours but large tumours are difficult to cure. There may be late recurrence. Adjuvent radiotherapy may also reduce recurrence.
Supratentorial hemangioblastomas in von Hippel–Lindau wild-type patients – case series and literature review
Published in International Journal of Neuroscience, 2018
Luís Rocha, Carolina Noronha, Ricardo Taipa, Joaquim Reis, Mário Gomes, Ernesto Carvalho
Von Hippel-Lindau disease is a multisystem familial cancer syndrome that involves chromosome 3p25–26, inherited as an autosomal dominant trait with a penetrance around 90% by 60 years of age, and annual incidence of one per 36,000 live births [37–39]. It represents 33% of all the cases, with the remnant majority occurring sporadically, or from rare reported congenital lesions [3,33,34,38,40,41].
Retinal arteriolar macroaneurysms with supravalvular pulmonic stenosis in the United Arab Emirates
Published in Ophthalmic Genetics, 2022
Arif O. Khan, Francesco Pichi, Piergiorgio Neri, Emad B. Abboud
Some other pediatric retinal vvascular disorders that RAMSVPS (or Coats disease) may be mistaken for include facioscapulohumeral muscular dystrophy, CTC1-related telomeropathy (Coats plus syndrome), retinitis pigmentosa with vascular abnormalities, Von-Hippel–Lindau disease, and retinal vasculitis. Facioscapulohumeral muscular dystrophy is an autosomal dominant muscular dystrophy that is rarely associated with telangiectasias or exudative retinopathy, which can be bilateral (6). More commonly, the only ophthalmic feature is retinal arteriolar tortuosity. CTC1-related telomeropathy is an autosomal recessive multi-system disease that includes developmental delay, neurological disease, multiple visceral disorders, skeletal anomalies, and skin anomalies (7,8). Bilateral retinal vascular anomalies and capillary telangiectasias lead to exudative retinopathy in affected children, who are overtly syndromic. Retinitis pigmentosa with vascular abnormality is a rare association, and the vascular abnormality can range from telangiectasia with exudation to vasoproliferative tumor (9). While this rare association has been reported with pathogenic variants in certain genes, it can occur in dominant or recessive retinitis pigmentosa from a variety of gene mutations. Von-Hippel–Lindau disease is a systemic autosomal dominant cancer-predisposition syndrome (10). The characteristic retinal capillary hemangioma can be unilateral or bilateral and leak or bleed, leading to exudative retinopathy, neovascularization, or hemorrhage. Retinal vasculitis in the context of inflammation of various causes can lead to aneurysmal dilations and exudative retinopathy with inflammatory signs. IRVAN (idiopathic retinitis, vasculitis, aneurysms, and neuroretinitis) is a rare bilateral condition in otherwise healthy children or young adults for which diagnosis is based on three major criteria (retinal vasculitis, aneurysmal dilations at arterial bifurcations, and neuroretinitis) and three minor criteria (peripheral capillary nonperfusion, retinal neovascularization, and macular exudation) (11).