Secchi NNC, Daniel Jiménez FD

Language: Spanish
References: 14
Page: 479-484
PDF size: 626.70 Kb.

ABSTRACT

Exist different types of neurofibromatosis: type 1 (NF1), type 2 (NF2) and type 3 (NF3). NF1 and NF2 are inherited genetic disorder of dominant autosomal way, in the NF1 such behavior it’s on a 50% and the other half for a mutation de novo. The prevalence of the NF1 is 1:2500-4000 people, and characteristic of the NF2 is the presence of café au lait spots, peripheral neurofibromas, Lisch nodules, axillary and inguinal freckling and degenerative osteoarthritis. The NF2 it note is with manifestation in the central nervous system (SNC) and high level of tumoral Genesis. The NF3 is also known as the mixed form. Inside of the complications of the neurofibromatosis it found that they are related with tumors and the one who doesn’t have a relationship with the same. It present in a case of a girl of 17 years old which come to the General Hospital of Minatitlan for presenting multiple epileptic crisis secondary to intracranial neurofibromas. In base of medical research, with the published criteria for the NIH in 1988 and the revealed lesions for the TAC it concludes that the case it’s above neurofibromatosis type 3 or mixed case.

REFERENCES

1. Moreno-Ulloa J. Transformación maligna de neurofibroma plexiforme mediastinal en un paciente con enfermedad de von Recklinghausen. A propósito de un caso. Rev. Med Int Mex 2010;26(3):401-405.

2. Pascual-Castroviejo I, Pascual-Pascual SD, Viaño J, Velázquez-Fragua R, y col. Tumores de los hemisferios cerebrales en la neurofibromatosis tipo 1 durante la infancia. Rev Neurol 2010;50(8): 453-457.

3. Créange A, Zeller J, Rostaing-Rigattieri S, Brugiéres P, et al. Neurological complications of neurofibromatosis type 1 in adulthood. Brain 1999;122:473-481.

4. National Institutes of Health Consensus Development Conference. Neurofibromatosis: conference statement. Arch Neurol 1987;45:575-578.

5. Salazar-Fuentes H, Mazzi-Gonzales de Prada E. Neurofibromatosis a propósito de un caso. Rev Soc Bol Ped 1994;33(3):104-107.

6. Hsieh HY, Wu T, Wang CJ, Chin SC, Chen YR. Neurological complications involving the central nervous system in neurofibromatosis type 1. Acta Neurol Taiwan 2007;16(2):68-73.

7. McGaughran JM, Harris DI, Donnai D, et al. A clinical study of type 1 neurofibromatosis in north west England. J Med Genet 1999;36(3):197-203.

8. Youssef, Georges F, Oussama A. Neurofibromatosis tipos 1 y 2 (características clínicas y manejo). Rev Médica de Costa Rica 2008;65:131-137.

9. Pérez-Grau M, Miró N, Prades J, Vergés J, y col. Neurofibromatosis tipo 2. Acta Otorrinolaringológica Española 2010;61(4):306-311.

10. Waizel-Haiat S, Aponte-Romo HX, Vargas Aguayo AM, Monter Carreola GA. Neurofibromatosis tipo 1 que afecta el oído externo: reporte de un caso. An Orl Mex 2007;52(4):159-164.

11. Lockwood AH, Salvi RJ, Burkard RF. Tinnitus. N Engl J Med 2002;347(12):904-910.

12. De Ángeles LM. Brain tumors. Rev N Engl J Med 2001;344(2): 114-123.

13. Committee on genetics. Health supervision for children with neurofibromatosis. Pediatrics 1995;96(2): 368-372.

14. Griffiths PD, Blaser S, Mukonoweshuro W, Armstrong D, et al. Neurofibromatosis bright objects in children with neurofibromatosis type 1: a proliferative potential? Pediatrics 1999;104(4):e49.