2012, Number 1
<< Back
Rev Mex Neuroci 2012; 13 (1)
Von Hippel-Lindau disease simulating acute stroke in the posterior fossa
Chávez CJ, Quintero M, Fuenmayor W, Hernández A, Ojeda IJ
Language: Spanish
References: 19
Page: 60-64
PDF size: 168.40 Kb.
ABSTRACT
Introduction: von Hippel-Lindau disease (VHL) is an
autosomal dominant inherited disorder associated with
predisposition to central nervous system (CNS) and
visceral tumors. Primary or metastatic neoplasias
affecting CNS represent frequent conditions that mimic
acute stroke.
Case report: A 38-year-old normotensive
woman presents to our institution with acute-onset
headache and posterior fossa focalization. The initial
clinical diagnosis was acute stroke, but cerebral
magnetic resonances showed a classical image compatible
with a non-hemorrhagic cerebellar
hemangioblastoma. Multiple cystic adnexal lesions
with elevated CA125 cancer antigen were further
identified. VHL disease was ultimately diagnosed.
Conclusions: All acute-onset focal CNS symptoms
accompanied with hypertensive crisis are hemorrhagic
strokes until proved otherwise. Nevertheless, CNS tumors
without acute hemorrhage can also mimic stroke. As
in our case, acute focalization in normotensive
individuals should prompt a wider differential diagnosis.
REFERENCES
Butman JA, Linehan WM, Lonser RR. Neurologic manifestations of von Hippel-Lindau disease. JAMA 2008; 300: 1334-42.
2, Jimenez C, Cabanillas ME, Santarpia L, Jonasch E, Kyle KL, Lano EA, Matin SF, et al. Use of the tyrosine kinase inhibitor sunitinib in a patient with von Hippel-Lindau disease: targeting angiogenic factors in pheochromocytoma and other von Hippel-Lindau disease-related tumors. J Clin Endocrinol Metab 2009; 94: 386-91.
Hes FJ, van der Luijt RB, Janssen AL, Zewald RA, de Jong GJ, Lenders JW, Links TP, et al. Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification. Clin Genet 2007; 72: 122-9.
Navas-García M, Pedrosa-Sánchez M, Carrasco-Moro R, Pascual- Garvi JM, Sola RG. Hemangioblastoma quístico de la unión bulbomedular asociado a enfermedad de von Hippel-Lindau. Presentación de dos casos y revisión de la bibliografía. Rev Neurol 2009; 48: 463-8.
Vega-Basulto S, Silva-Adan S, Penones-Montero R, Mosqueda-Betancourt G. Hemangioblastomas del sistema nervioso en Camaguey (Cuba). Rev Neurol 2002; 35: 512-6.
Gelabert-González M. Hemangioblastomas de fosa posterior. Neurologia 2007; 22: 853-9.
García-Moncó JC, Marrodán A, Foncea Beti N, Gómez Beldarrain M. Stroke and transient ischemic attack-mimicking conditions: a prospective analysis of risk factors and clinical profiles at a general hospital. Neurologia 2002; 17: 355-60.
Arboix A. Enfermedades que simulan ataques isquémicos transitorios o ictus establecidos. Neurología 2002; 17: 353-4.
Shuin T, Yamasaki I, Tamura K, Okuda H, Furihata M, Ashida S. Von Hippel-Lindau disease: molecular pathological basis, clinical criteria, genetic testing, clinical features of tumors and treatment. Jpn J Clin Oncol 2006; 36: 337-43.
Park DM, Zhuang Z, Chen L, Szerlip N, Maric I, Li J, Sohn T, et al. von Hippel-Lindau disease-associated hemangioblastomas are derived from embryologic multipotent cells. PLoS Med 2007; 4: e60.
Woodward ER, Wall K, Forsyth J, Macdonald F, Maher ER. VHL mutation analysis in patients with isolated central nervous system haemangioblastoma. Brain 2007; 130(Pt 3): 836-42.
Shekhar H, Myles L, Lee M. Von Hippel-Lindau disease: delayed presentation as a cerebellar haemangioblastoma in an elderly patient. Br J Neurosurg 2009; 23: 97-8.
Dwarakanath S, Suri A, Sharma BS, Mehta VS. Intracranial hemangioblastomas: an institutional experience. Neurol India 2006; 54: 276-8.
Hernández-Pernía A. Hemorragia cerebral parenquimatosa y crisis hipertensiva: Una propuesta clínica. Invest Clin 2001; 4: 221-3.
Qureshi AI, Mendelow AD, Hanley DF. Intracerebral haemorrhage. Lancet 2009; 373: 1632-44.
Richard S, Graff J, Lindau J, Resche F. Von Hippel-Lindau disease. Lancet 2004; 363: 1231-4.
Ong KR, Woodward ER, Killick P, Lim C, Macdonald F, Maher ER. Genotype-phenotype correlations in von Hippel-Lindau disease. Hum Mutat 2007; 28: 143-9.
Kerbel RS. Tumor angiogenesis. N Engl J Med 2008; 358: 2039-49.
Leung RS, Biswas SV, Duncan M, Rankin S. Imaging features of von Hippel-Lindau disease. Radiographics 2008; 28: 65-79.