Vasküler Komponentlerin Belirgin Olduğu Nörokütan Sendromlar
Özet
Vasküler komponentleri belirgin olan nörokütan sendromlar; Sturge-Weber, PHACES, Von Hippel-Lindau, Herediter hemorajik telenjiektazi, Klippel-Trenaunay, Maffucci, Sneddon ve Wyburn-Mason sendromlarını kapsamaktadır. Bu nadir hastalıklar genellikle genetik mutasyonlarla ilişkilidir ve beyin, göz, deri ve diğer organ sistemlerinde çeşitli vasküler anomalilere yol açmaktadır. Tanı için klinik kriterler ve detaylı nörogörüntüleme teknikleri kritik öneme sahip olup, tedavi süreçleri multisistem tutulum göz önüne alınarak multidisipliner bir yaklaşımla yürütülmelidir. Erken teşhis ve düzenli takip, gelişebilecek ciddi komplikasyonları önlemek ve yaşam kalitesini iyileştirmek için hayati önem taşımaktadır.
Neurocutaneous syndromes with prominent vascular components encompass conditions such as Sturge-Weber, PHACES, Von Hippel-Lindau, Hereditary Hemorrhagic Telangiectasia, Klippel-Trénaunay, Maffucci, Sneddon, and Wyburn-Mason syndromes. These rare disorders are frequently associated with genetic mutations and result in diverse vascular anomalies affecting the brain, eyes, skin, and various organ systems. Clinical diagnosis relies on specific criteria and advanced neuroimaging techniques, requiring a multidisciplinary approach for comprehensive management. Early detection and regular monitoring are vital to mitigate severe complications and improve overall patient prognosis.
Referanslar
Patterson MC, Sturge-Weber syndrome, editor, Levy ML, up to date Sep 2021.
Canpolat M, Per Hüseyin, Yıkılmaz A, Gümüş H, Özcan A, Poyrazoğlu HG, ve ark. Sturge-Weber sendromu; klinik ve radyolojik değerlendirme. Gaziantep Med J 2013:19;30-4.
Shirley MD, Tang H, Gallione CJ, et al. Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N Engl J Med 2013; 368:1971.
Gürsoy S, Erçal D. Sık görülen nörokütanöz sendromlara genetik yaklaşım. Çarman KB, editör. Nörokütanöz Hastalıklar. 1. Baskı. Ankara: Türkiye Klinikleri; 2021. p.2
Happle R. Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin. J Am Acad Dermatol 1987; 16:899.
Di Rocco C, Tamburrini G. Sturge-Weber syndrome. Childs Nerv Syst. 2006;22:909–921.
Parsa CF. Focal venous hypertension as a pathophysiologic mechanism for tissue hypertrophy, port-wine stains, the Sturge-Weber syndrome, and related disorders: proof of concept with novel hypothesis for underlying etiological cause (an American ophthalmological society thesis). Trans Am Ophthalmol Soc. 2013;111:180–207.
Van der Hoeve J. The Doyne Memorial lecture: eye symptoms in the phakomatoses. Trans Opthalmol Soc U K. 1932;52:380.
Mantelli F, Bruscolini A, La Cava M, Abdolrahimzadeh S, Lambiase A. Ocular manifestations of Sturge-Weber syndrome: pathogenesis, diagnosis, and management. Clin Ophthalmol. 2016 May 13;10:871-8.
Zaroff CM, Isaacs K. Neurocutaneous syndromes: behavioral features. Epilepsy Behav. 2005;7:133–142.
Waelchli R, Aylett SE, Robinson K, et al. New vascular classification of port-wine stains: imporoving prediction. Br J Dermatol. 2014;171: 861–867.
Norman MG, Schoene WC. The ultrastructure of Sturge-Weber disease. Acta Neuropathol. 1977;37:199–205.
Roach ES. Neurocutaneous syndromes. Pediatr Clin North Am. 1992; 39(4):591–620.
Bodensteiner JB. Sturge-Weber Syndrome. In: Vascular Birthmarks of the Head and Neck, Hochman M (Ed), Facial Plastic Surgery Clinics of North America, 2001. p.569
Tallman B, Tan OT, Morelli JG, et al. Location of port-wine stains and the likelihood of ophthalmic and/or central nervous system complications. Pediatrics 1991; 87:323.
Aydin A, Cakmakçi H, Kovanlikaya A, Dirik E. Sturge-Weber syndrome without facial nevus. Pediatr Neurol 2000; 22:400.
Comati A, Beck H, Halliday W, et al. Upregulation of hypoxia-inducible factor (HIF)-1alpha and HIF-2alpha in leptomeningeal vascular malformations of Sturge-Weber syndrome. J Neuropathol Exp Neurol 2007; 66:86.
Sujansky E, Conradi S. Sturge-Weber syndrome: age of onset of seizures and glaucoma and the prognosis for affected children. J Child Neurol 1995; 10:49.
Bebin EM, Gomez MR. Prognosis in Sturge-Weber disease: comparison of unihemispheric and bihemispheric involvement. J Child Neurol 1988; 3:181.
Kaseka ML, Bitton JY, Décarie JC, Major P. Predictive Factors for Epilepsy in Pediatric Patients With Sturge-Weber Syndrome. Pediatr Neurol 2016; 64:52.
Maton B, Krsek P, Jayakar P, et al. Medically intractable epilepsy in Sturge-Weber syndrome is associated with cortical malformation: implications for surgical therapy. Epilepsia 2010; 51:257.
Kossoff EH, Ferenc L, Comi AM. An infantile-onset, severe, yet sporadic seizure pattern is common in Sturge-Weber syndrome. Epilepsia 2009; 50:2154.
Cheng KP. Ophthalmologic manifestations of Sturge-Weber syndrome. In: Sturge-Weber Syndrome, Bodensteiner JB, Roach ES (Eds), Sturge-Weber Foundation, Mt. Freedom, NJ 1999. p.17.
Bosnyák E, Behen ME, Guy WC, et al. Predictors of Cognitive Functions in Children With Sturge-Weber Syndrome: A Longitudinal Study. Pediatr Neurol 2016; 61:38.
Pascual-Castroviejo I, Díaz-Gonzalez C, García-Melian RM, et al. Sturge-Weber syndrome: study of 40 patients. Pediatr Neurol 1993; 9:283.
Sujansky E, Conradi S. Outcome of Sturge-Weber syndrome in 52 adults. Am J Med Genet 1995; 57:35.
Chapieski L, Friedman A, Lachar D. Psychological functioning in children and adolescents with Sturge-Weber syndrome. J Child Neurol 2000; 15:660.
Raches D, Hiscock M, Chapieski L. Behavioral and academic problems in children with Sturge-Weber syndrome: differences between children with and without seizures. Epilepsy Behav 2012; 25:457.
Gittins S, Steel D, Brunklaus A, et al. Autism spectrum disorder, social communication difficulties, and developmental comorbidities in Sturge-Weber syndrome. Epilepsy Behav 2018; 88:1.
Bebin EM, Gomez MR. Prognosis in Sturge-Weber disease: comparison of unihemispheric and bihemispheric involvement. J Child Neurol 1988; 3:181.
Miller RS, Ball KL, Comi AM, Germain-Lee EL. Growth hormone deficiency in Sturge-Weber syndrome. Arch Dis Child 2006; 91:340.
Comi AM, Bellamkonda S, Ferenc LM, et al. Central hypothyroidism and Sturge-Weber syndrome. Pediatr Neurol 2008; 39:58.
Sinawat S, Auvichayapat N, Auvichayapat P, Yospaiboon Y, Sinawat S. 12-year retrospective study of Sturge-Weber syndrome and literature review. J Med Assoc Thai. 2014;97(7):742–750.
Mwinula JH, Sagawa T, Tawara A, Inomata H. Anterior chamber angle vascularization in Sturge-Weber syndrome. Graefes Arch Clin Exp Ophthalmol. 1994;232:387–391.
Sujansky E, Conradi S. Sturge-Weber syndrome: age of onset of seizures and glaucoma and the prognosis for affected children. J Child Neurol. 1995;10:49.
Phelps CD. The pathogenesis of glaucoma in Sturge-Weber syndrome. Ophthalmology 1978; 85:276.
Truhan AP, Filipek PA. Magnetic resonance imaging. Its role in the neuroradiologic evaluation of neurofibromatosis, tuberous sclerosis, and Sturge-Weber syndrome. Arch Dermatol 1993; 129:219.
Sabeti S, Ball KL, Bhattacharya SK, et al. Consensus Statement for the Management and Treatment of Sturge-Weber Syndrome: Neurology, Neuroimaging, and Ophthalmology Recommendations. Pediatr Neurol 2021; 121:59.
Comi A. Current Therapeutic Options in Sturge-Weber Syndrome. Semin Pediatr Neurol 2015; 22:295.
Kaplan EH, Kossoff EH, Bachur CD, et al. Anticonvulsant Efficacy in Sturge-Weber Syndrome. Pediatr Neurol 2016; 58:31.
Arzimanoglou AA, Andermann F, Aicardi J, et al. Sturge-Weber syndrome: indications and results of surgery in 20 patients. Neurology 2000; 55:1472.
Vining EP, Freeman JM, Pillas DJ, et al. Why would you remove half a brain? The outcome of 58 children after hemispherectomy-the Johns Hopkins experience: 1968 to 1996. Pediatrics 1997; 100:163.
Kossoff EH, Buck C, Freeman JM. Outcomes of 32 hemispherectomies for Sturge-Weber syndrome worldwide. Neurology 2002; 59:1735.
Bourgeois M, Crimmins DW, de Oliveira RS, et al. Surgical treatment of epilepsy in Sturge-Weber syndrome in children. J Neurosurg 2007; 106:20.
Comi AM. Sturge-Weber syndrome and epilepsy: an argument for aggressive seizure management in these patients. Expert Rev Neurother 2007; 7:951.
Puttgen KB, Lin DD. Neurocutaneous vascular syndromes. Childs Nerv Syst 2010; 26:1407.
Bay MJ, Kossoff EH, Lehmann CU, et al. Survey of aspirin use in Sturge-Weber syndrome. J Child Neurol 2011; 26:692.
Lance EI, Sreenivasan AK, Zabel TA, et al. Aspirin use in Sturge-Weber syndrome: side effects and clinical outcomes. J Child Neurol 2013; 28:213.
Day AM, Hammill AM, Juhász C, et al. Hypothesis: Presymptomatic treatment of Sturge-Weber Syndrome With Aspirin and Antiepileptic Drugs May Delay Seizure Onset. Pediatr Neurol 2019; 90:8.
Day AM, McCulloch CE, Hammill AM, et al. Physical and Family History Variables Associated With Neurological and Cognitive Development in Sturge-Weber Syndrome. Pediatr Neurol 2019; 96:30.
Sugano H, Iimura Y, Igarashi A, et al. Extent of Leptomeningeal Capillary Malformation is Associated With Severity of Epilepsy in Sturge-Weber Syndrome. Pediatr Neurol 2021; 117:64.
Luat AF, Behen ME, Chugani HT, Juhász C. Cognitive and motor outcomes in children with unilateral Sturge-Weber syndrome: Effect of age at seizure onset and side of brain involvement. Epilepsy Behav 2018; 80:202.
Rotter A, Samorano LP, Rivitti-Machado MC, Oliveira ZNP, Gontijo B. PHACE syndrome: clinical manifestations, diagnostic criteria, and management. An Bras Dermatol. 2018 Jun;93(3):405-411.
Garzon MC, Epstein LG, Heyer GL, Frommelt PC, Orbach DB, Baylis AL, et al. PHACE Syndrome: Consensus-Derived Diagnosis and Care Recommendations. J Pediatr. 2016;178:24-33.e2.
Bracken J, Robinson I, Snow A, Watson R, Irvine AD, Rea D, et al. PHACE syndrome: MRI of intracerebral vascular anomalies and clinical findings in a series of 12 patients. Pediatr Radiol. 2011;41:1129-38.
Pascual-Castroviejo I. Vascular and nonvascular intracranial malformation associated with external capillary hemangiomas. Neuroradiology. 1978;16:82-4.
Frieden IJ, Reese V, Cohen D. PHACE syndrome. The association of posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities. Arch Dermatol. 1996;132:307-11.
Metry DW, Dowd CF, Barkovich AJ, Frieden IJ. The many faces of PHACE syndrome. J Pediatr. 2001;139:117-23.
Haggstrom AN, Lammer EJ, Schneider RA, Marcucio R, Frieden IJ. Patterns of infantile hemangiomas: new clues to hemangioma pathogenesis and embryonic facial development. Pediatrics. 2006;117:698-703.
Siegel DH, Tefft KA, Kelly T, Johnson C, Metry D, Burrows P, et al. Stroke in children with posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities (PHACE) syndrome: a systematic review of the literature. Stroke. 2012;43:1672-4.
Tangtiphaiboontana J, Hess CP, Bayer M, Drolet BA, Nassif LM, Metry DW, et al. Neurodevelopmental abnormalities in children with PHACE syndrome. J Child Neurol. 2013;28:608-14.
Brosig CL, Siegel DH, Haggstrom AN, Frieden IJ, Drolet BA. Neurodevelopmental Outcomes in Children with PHACE Syndrome. Pediatr Dermatol. 2016;33:415-23.
Haggstrom AN, Garzon MC, Baselga E, Chamlin SL, Frieden IJ, Holland K, et al. Risk for PHACE syndrome in infants with large facial hemangiomas. Pediatrics. 2010;126:e418-26.
Bayer ML, Frommelt PC, Blei F, Breur JM, Cordisco MR, Frieden IJ,et al. Congenital cardiac, aortic arch, and vascular bed anomalies in PHACE syndrome (from the International PHACE Syndrome Registry). Am J Cardiol. 2013;112:1948-52.
Rudnick EF, Chen EY, Manning SC, Perkins JA. PHACES syndrome: otolaryngic considerations in recognition and management. Int J Pediatr Otorhinolaryngol. 2009;73:281-8.
Martin KL, Arvedson JC, Bayer ML, Drolet BA, Chun R, Siegel DH. Risk of dysphagia and speech and language delay in PHACE syndrome. Pediatr Dermatol. 2015;32:64-9.
Altin H, Alp H, Sap F, Karataş Z, Baysal T, Karaaslan S. PHACE syndrome with growth hormone deficiency and absence of bilateral internal carotid arteries: a case report. Pediatr Dermatol. 2012;29:316-9.
Goddard DS, Liang MG, Chamlin SL, Svoren BM, Spack NP, Mulliken JB Hypopituitarism in PHACES Association. Pediatr Dermatol. 2006;23:476-80.
Chiu YE, Siegel DH, Drolet BA, Hodgson BD. Tooth enamel hypoplasia in PHACE syndrome. Pediatr Dermatol. 2014;31:455-8.
Hartemink DA, Chiu YE, Drolet BA, Kerschner JE. PHACES syndrome: a review. Int J Pediatr Otorhinolaryngol. 2009;73:181-7.
Metry D, Frieden IJ, Hess C, Siegel D, Maheshwari M, Baselga E, et al. Propranolol use in PHACE syndrome with cervical and intracranial arterial anomalies: collective experience in 32 infants. Pediatr Dermatol. 2013;30:71-89.
Metry D, Heyer G, Hess C, Garzon M, Haggstrom A, Frommelt P, et al. Consensus Statement on Diagnostic Criteria for PHACE Syndrome. Pediatrics. 2009;124:1447-56.
Mikhail MI, Singh AK. Von Hippel Lindau Syndrome. 2021 Feb 4. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan–.
Varshney N, Kebede AA, Owusu-Dapaah H, Lather J, Kaushik M, Bhullar JS. A Review of Von Hippel-Lindau Syndrome. J Kidney Cancer VHL. 2017 Aug 2;4(3):20-29.
Signoretti S, Flaifel A, Chen YB, Reuter VE. Renal Cell Carcinoma in the Era of Precision Medicine: From Molecular Pathology to Tissue-Based Biomarkers. J Clin Oncol. 2018 Oct 29;:JCO2018792259.
Wiley HE, Krivosic V, Gaudric A, Gorin MB, Shields C, Shields J, Aronow ME, Chew EY. Management of retinal hemangioblastoma in VON HIPPEL-LINDAU DISEASE. Retina. 2019 Dec;39(12):2254-2263.
Koch CA, Petersenn S. Black swans - neuroendocrine tumors of rare locations. Rev Endocr Metab Disord. 2018 Jun;19(2):111-121.
Yilmaz U. [CNS manifestations of neurocutaneous syndromes]. Radiologe. 2018 Jul;58(7):664-667.
Das JM, Kesavapisharady K, Sadasivam S, Nair SN. Microsurgical Treatment of Sporadic and von Hippel-Lindau Disease Associated Spinal Hemangioblastomas: A Single-Institution Experience. Asian Spine J. 2017 Aug;11(4):548-555.
Ganeshan D, Menias CO, Pickhardt PJ, Sandrasegaran K, Lubner MG, Ramalingam P, Bhalla S. Tumors in von Hippel-Lindau Syndrome: From Head to Toe-Comprehensive State-of-the-Art Review. Radiographics. 2018 May-Jun;38(3):982.
Maher ER. Hereditary renal cell carcinoma syndromes: diagnosis, surveillance and management. World J Urol. 2018 Dec;36(12):1891-1898.
Perlman S. Von Hippel-Lindau disease and Sturge-Weber syndrome. Handb Clin Neurol. 2018;148:823-826.
Macri A, Wilson AM, Shafaat O, Sharma S. Osler-Weber-Rendu Disease. 2021 Aug 11. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan–.
Jackson SB, Villano NP, Benhammou JN, Lewis M, Pisegna JR, Padua D. Gastrointestinal Manifestations of Hereditary Hemorrhagic Telangiectasia (HHT): A Systematic Review of the Literature. Dig Dis Sci. 2017 Oct;62(10):2623-2630.
Morgan T, McDonald J, Anderson C, Ismail M, Miller F, Mao R, Madan A, Barnes P, Hudgins L, Manning M. Intracranial hemorrhage in infants and children with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome). Pediatrics. 2002 Jan;109(1):E12.
Westermann CJ, Rosina AF, De Vries V, de Coteau PA. The prevalence and manifestations of hereditary hemorrhagic telangiectasia in the Afro-Caribbean population of the Netherlands Antilles: a family screening. Am J Med Genet A. 2003 Feb 01;116A(4):324-8.
Guttmacher AE, Marchuk DA, White RI. Hereditary hemorrhagic telangiectasia. N Engl J Med. 1995 Oct 05;333(14):918-24.
Kritharis A, Al-Samkari H, Kuter DJ. Hereditary hemorrhagic telangiectasia: diagnosis and management from the hematologist's perspective. Haematologica. 2018 Sep;103(9):1433-1443. doi: 10.3324/haematol.2018.193003. Epub 2018 May 24.
Kühnel T, Wirsching K, Wohlgemuth W, Chavan A, Evert K, Vielsmeier V. Hereditary Hemorrhagic Telangiectasia. Otolaryngol Clin North Am. 2018 Feb;51(1):237-254.
Naganathan S, Tadi P. Klippel Trenaunay Weber Syndrome. 2021 Sep 29. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan–.
Chagas CAA, Pires LAS, Babinski MA, Leite TFO. Klippel-Trenaunay and Parkes-Weber syndromes: two case reports. J Vasc Bras. 2017 Oct-Dec;16(4):320-324.
Sharma D, Lamba S, Pandita A, Shastri S. Klippel-trénaunay syndrome - a very rare and interesting syndrome. Clin Med Insights Circ Respir Pulm Med. 2015;9:1-4.
Vahidnezhad H, Youssefian L, Uitto J. Klippel-Trenaunay syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS). Exp Dermatol. 2016 Jan;25(1):17-9.
Martinez-Lopez A, Salvador-Rodriguez L, Montero-Vilchez T, Molina-Leyva A, Tercedor-Sanchez J, Arias-Santiago S. Vascular malformations syndromes: an update. Curr Opin Pediatr. 2019 Dec;31(6):747-753.
Alwalid O, Makamure J, Cheng QG, Wu WJ, Yang C, Samran E, Han P, Liang HM. Radiological Aspect of Klippel-Trénaunay Syndrome: A Case Series With Review of Literature. Curr Med Sci. 2018 Oct;38(5):925-931.
Sung HM, Chung HY, Lee SJ, Lee JM, Huh S, Lee JW, Choi KY, Yang JD, Cho BC. Clinical Experience of the Klippel-Trenaunay Syndrome. Arch Plast Surg. 2015 Sep;42(5):552-8.
Wang SK, Drucker NA, Gupta AK, Marshalleck FE, Dalsing MC. Diagnosis and management of the venous malformations of Klippel-Trénaunay syndrome. J Vasc Surg Venous Lymphat Disord. 2017 Jul;5(4):587-595.
John PR. Klippel-Trenaunay Syndrome. Tech Vasc Interv Radiol. 2019 Dec;22(4):100634.
Abdel Razek AAK. Imaging Findings of Klippel-Trenaunay Syndrome. J Comput Assist Tomogr. 2019 Sep/Oct;43(5):786-792.
Amary MF, Damato S, Halai D, Eskandarpour M, Berisha F, Bonar F, McCarthy S, Fantin VR, Straley KS, Lobo S, Aston W, Green CL, Gale RE, Tirabosco R, Futreal A, Campbell P, Presneau N, Flanagan AM. Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2. Nat Genet. 2011 Nov 6;43(12):1262-5.
Kaplan, R. P., Wang, J. T., Amron, D. M., Kaplan, L. Maffucci's syndrome: two case reports with a literature review. J. Am. Acad. Derm1993; 29: 894-899.
Lee, N. H., Choi, E. H., Choi, W. K., Lee, S. H., Ahn, S. K. Maffucci's syndrome with oral and intestinal haemangioma. (Letter) Brit. J. Derm. 1999; 140: 968-969.
Halal, F., Azouz, E. M. Generalized enchondromatosis in a boy with only platyspondyly in the father. Am. J. Med. Genet. 1991; 38: 588-592.
Hopyan, S., Gokgoz, N., Poon, R., A mutant PTH/PTHrP type I receptor in enchondromatosis. Nature Genet. 2002; 30: 306-310.
El Abiad JM, Robbins SM, Cohen B, Levin AS, Valle DL, Morris CD, de Macena Sobreira NL. Natural history of Ollier disease and Maffucci syndrome: Patient survey and review of clinical literature. Am J Med Genet A. May 2020; 182(5):1093-1103.
Bersano A, Morbin M, Ciceri E, Bedini G, Berlit P, Herold M, Saccucci S, Fugnanesi V, Nordmeyer H, Faragò G, Savoiardo M, Taroni F, Carriero M, Boncoraglio Giorgio B, Perucca L, Caputi L, Parati Eugenio A, Kraemer M. The diagnostic challenge of Divry van Bogaert and Sneddon Syndrome: Report of three cases and literature review. J Neurol Sci. 2016 May 15;364:77-83.
Stone J, Bhattacharya J, Walls TJ. Divry-Van Bogaert syndrome in a female: relationship to Sneddon's syndrome and radiographic appearances. Neuroradiology. 2001 Jul;43(7):562-4.
Ellie E, Julien J, Henry P, Vital C, Ferrer X. Angiomatose cortico-méningée de Divry-Van Bogaert et syndrome de Sneddon. Etude nosologique. A propos de quatre cas [Divry-Van Bogaert cortico-meningeal angiomatosis and Sneddon's syndrome. Nosological study. Apropos of 4 cases]. Rev Neurol (Paris). 1987;143(12):798-805.
Niclot P, Hernette D, Brosset C, Dano P. L'angiomatose cortico-méningée de Divry et Van Bogaert: une cause rare d'accident vasculaire cérébral ischémique du sujet jeune. Rapports avec le syndrome de Sneddon [Divry-Van Bogaert cortico-meningeal angiomatosis: a rare cause of cerebral ischemic complication in young patients. Relations with Sneddon syndrome]. Ann Med Interne (Paris). 1995;146(4):280-3.
de Felipe I, Quintanilla E. Síndromes neurocutáneos con afectación vascular [Neurocutaneous syndromes with vascular alterations]. Rev Neurol. 1997 Sep;25 Suppl 3:S250-8.
I.B. Sneddon, Cerebrovascular lesions and livedo reticularis, Br. J. Dermatol. 1965; 77: 180–185.
G.E. Tietjen, M.M. Al-Qasmi, M.S. Shukairy, Livedo reticularis and migraine: a marker for stroke risk? Headache 2002; 42: 352–355.
M. Kraemer, D. Linden, P. Berlit, The spectrum of differential diagnosis in neurological patients with livedo reticularis and livedo racemosa. A literature review, J. Neurol. 2005; 252: 1155–1166.
P. Divry, L. Van Bogaert, J. Neurol. Neurosurg. Psychiatry 1946; 9: 41–54.
D. Guillot, P. Salamand, P. Tomasini, J.F. Briant, C. Brosset, Ischemic cerebral vascular accidents in young subjects and livedo reticularis. Apropos of a case of Sneddon's syndrome or Divry-Van Bogaert's syndrome, Ann. Radiol. 1994; 37: 281–285.
M. Kraemer, P. Berlit, Cerebral haemorrhage as the presenting form of Sneddon's syndrome, Clin. Neurol. Neurosurg. 2008; 110: 533.
M. Baleva, A. Chauchev, C. Dikova, B. Stamenov, N. Nikoevski, N. Tzankov, et al., Sneddon's syndrome: echocardiographic, neurological, and immunologic findings, Stroke. 1995; 26: 1303–1304.
J. Ruscalleda, P. Coscojuela, E. Guardia, M. DeJuan, General case of the day. Cerebromeningeal angiomatosis (Sneddon syndrome), Radiographics 1991; 11: 929–931.
C. Francès, J.C. Piette, The mystery of Sneddon syndrome: relationship with antiphospholipid syndrome and systemic lupus erythematosus, J. Autoimmun. 2000; 15: 139–143.
Bhattacharya JJ, Luo CB, Suh DC, Alvarez H, Rodesch G, Lasjaunias P. Wyburn-Mason or Bonnet-Dechaume-Blanc as Cerebrofacial Arteriovenous Metameric Syndromes (CAMS). A New Concept and a New Classification. Interv Neuroradiol. 2001 Mar 30;7(1):5-17.
Pangtey BPS, Kohli P, Ramasamy K. Wyburn-Mason syndrome presenting with bilateral retinal racemose hemangioma with unilateral serous retinal detachment. Indian J Ophthalmol. 2018 Dec;66(12):1869-1871.
Dissemond J, Salva K, Kröger K. Image Gallery: Wyburn-Mason syndrome with a chronic wound. Br J Dermatol. 2018 Sep;179(3):e134.
Turell ME, Singh AD. Vascular tumors of the retina and choroid: diagnosis and treatment. Middle East Afr J Ophthalmol. 2010 Jul;17(3):191-200.
Soliman W, Haamann P, Larsen M. Exudation, response to photocoagulation and spontaneous remission in a case of bilateral racemose haemangioma. Acta Ophthalmol Scand. 2006 Jun;84(3):429-31.
Onder HI, Alisan S, Tunc M. Serous retinal detachment and cystoid macular edema in a patient with Wyburn-Mason syndrome. Semin Ophthalmol. 2015 Mar;30(2):154-6.
So JM, Mishra C, Holman RE. Wyburn-Mason Syndrome. 2021 Jul 2. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan–.
Brown RD, Wiebers DO, Forbes G, O'Fallon WM, Piepgras DG, Marsh WR, Maciunas RJ. The natural history of unruptured intracranial arteriovenous malformations. J Neurosurg. 1988 Mar;68(3):352-7.
Rao P, Thomas BJ, Yonekawa Y, Robinson J, Capone A. Peripheral Retinal Ischemia, Neovascularization, and Choroidal Infarction in Wyburn-Mason Syndrome. JAMA Ophthalmol. 2015 Jul;133(7):852-4.
Callahan AB, Skondra D, Krzystolik M, Yonekawa Y, Eliott D. Wyburn-Mason Syndrome Associated With Cutaneous Reactive Angiomatosis and Central Retinal Vein Occlusion. Ophthalmic Surg Lasers Imaging Retina. 2015 Jul-Aug;46(7):760-2.
Archer DB, Deutman A, Ernest JT, Krill AE. Arteriovenous communications of the retina. Am J Ophthalmol. 1973 Feb;75(2):224-41.
Muthukumar N, Sundaralingam MP. Retinocephalic vascular malformation: case report. Br J Neurosurg. 1998 Oct;12(5):458-60.
Ponce FA, Han PP, Spetzler RF, Canady A, Feiz-Erfan I. Associated arteriovenous malformation of the orbit and brain: a case of Wyburn-Mason syndrome without retinal involvement. Case report. J Neurosurg. 2001 Aug;95(2):346-9.
Sibony PA, Lessell S, Wray S. Chiasmal syndrome caused by arteriovenous malformations. Arch Ophthalmol. 1982 Mar;100(3):438-42.
Hopen G, Smith JL, Hoff JT, Quencer R. The Wyburn-Mason syndrome. Concomitant chiasmal and fundus vascular malformations. J Clin Neuroophthalmol. 1983 Mar;3(1):53-62.
Puttgen KB, Lin DD. Neurocutaneous vascular syndromes. Childs Nerv Syst. 2010 Oct;26(10):1407-15.
