Díaz CA, Zottis GC, da Acunha MLV, Verissimo DC, Rehder R, Borba LAB

Language: Spanish
References: 17
Page: 487-482
PDF size: 672.50 Kb.

ABSTRACT

Neurofibromatosis type I (NF-1) consist of autosomal dominant disease characterized by a mutation on 17q chromosome. Among the clinical manifestations included there are neurofibromas, café-au-lait macules, Lisch nodules, malignancy, skeletal manifestations, and mental retardation. Literature presents papers on cerebral vasculopathies associated to NF-1, such as stenosis or great vessels occlusion, arteriovenous fistulas, arteriovenous malformations, and aneurysms. Case report of a patient presenting the diagnosis of neurofibromatosis type 1 admitted in Evangelico University Hospital of Curitiba.

REFERENCES

1. Serramito-García R, Gelabert-González M, García-Allut A. Aneurisma de arteria comunicante anterior asociado a neurofibromatosis tipo 1. Neurología 2007; 22: 547-50.

2. Detwiler K, Godersky JC, Gentry L. Pseudoaneurysm of the extracranial vertebral artery. J Neurosurg 1987; 67: 935-9.

3. Mitsui Y, Nakasaka Y, Akamatsu M, Ueda H, Kihara M, Takahashi M. Neurofibromatosis type I with basilar artery fusiform aneurysma manifesting Wallenberg´s Syndrome. Intern Med 2001; 40: 948-51.

4. Murovic JA, Kim DH, Kline DG. Neurofibromatosis-associated nerve sheath tumors: case report and review of the literature. Neurosurg Focus 2006; 20(1): 1-10.

5. Jacoby CG, Go RT, Beren RA. Cranial CT of Neurofibromatosis. AJR 1980; 135: 553-7.

6. Bognanno JR, Edwards MK, Lee TA. Cranial MR Imaging in Neurofibromatosis. AJR 1988; 151: 381-8.

7. Gottfried OR, Viskochil DH, Couldwell WT. Neurofibromatosis type 1 and tumorigenesis: molecular mechanism and therapeutic implications. Neurosurg Focus 2010; 28: 1-9.

8. Conway JE, Hutchins GM, Tamargo RJ. Lack of evidence for an association between neurofibromatosis type I and intracranial aneurysms: autopsy study and review of the literature. Stroke 2001; 32: 2481-5.

9. Fye KH, Jacobs RP, Roe RL. Vascular manifestations of von Recklinghausen´s disease. West J Med 1975; 122: 110-6.

10. Rasmussen SA, Yang Q, Friedman JM. Mortality in neurofibromatosis 1: an analysis using US Death Certificates. Am J Hum Genet 2001; 68: 1110-8.

11. Bassou D, Darbi A, Atmane M, Jidal M, Elfenni J, Amezyane T, et al. Ectasic diffuse vasculopathy of the cerebral arteries associated with neurofibromatosis type 1. J Neuroradiol 2008; 35: 292-6.

12. Weerasinghe C, Jesudason P, Peckham D. An unusual cause of subarachnoid hemorrhage in a patient with newly diagnosed neurofibromatosis: a case report. Cases J 2009; 2(8399): 1-4.

13. Baldauf J, Kiwit J, Sunowitz M. Cerebral aneurysms associated with Von Recklinghausen´s neurofibromatosis: Report of a case and review of the literature. Neurology India 2005; 53(2): 213-5.

14. Sauneuf B, Chevalier S, Jehan C, Courtheoux P, Gérard JL, Hanouz JL, Plaud B. Neurofibromatosis type I and multiple traumatic cervical arterial injuries: a case report. Cases J 2009; 2(7199): 1-5.

15. Roth TC, Manness WK, Hershey BL, Yazdi J. Complex vertebral arteriovenous fistula and ruptured aneurysm in neurofibromatosis: a therapeutically challenging case. Skull Base Surg 2000; 10(1): 35-41.

16. Ku YK, Wu Chen H, Wen Chen H, Fu CJ, Chin SC. Giant extracranial aneurysms of both internal carotid arteries with aberrant jugular veins in a patient with neurofibromatosis type 1. AJNR 2008; 29: 1750-2.

17. Huson S, Coley A, Peperell Cl. Neurofibromatosis type 1(NF-1). 2a Ed. Barcelona, España: AcNEFI, Asociación catalana de la Neurofibromatosis; 1999.