2008, Number 583
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Rev Med Cos Cen 2008; 65 (583)
Neurofibromatosis tipo 1 y 2
Fares Y, Haddad GF, Kanj A, OFarhat O
Language: Spanish
References: 12
Page: 131-137
PDF size: 689.47 Kb.
ABSTRACT
We present a total of 42 patients suffering of Neurofibromatosis, 34 were compatible with NFI while the remaining 8 patients have NFII, according to the diagnostic criteria established by the “National Institutes of Health Consensus Development Conference” in 1987. AlI patients with NFI and NFII were neuroradiologically evaluated studied. The involvement of the optic nerve was seen in patients with NFI, followed by hamartomas in 9 cases, while 23 patients had cranial or spinal alterations with osteolytic defects, scoliosis, vertebral scalloping and “Spondilolisthesis”. In the NF2 a high incidence of acoustic neuromas was seen (5 cases), meningiomas and astrocytoma were seen in 3 cases, having thus a worse index of life expectancy.
REFERENCES
CONFERENCE STATEMENT: Neurofibromatosis. Arch Neurol. 45:575-578, 1988.
Evans GDR SM. Donnai D. et al, A clinical Study of type 2 neurofibromatosis. QJ Med 84:603-618, 1992.
Evans DGR Huson SM. Donnai D. e al genetic study of type 2 Neurofibromatosis in the United Kingdom I prevalence mutation rate, fitness and conformation of material transmission effect on severity. J Med Genet 29:841-846, 1992.
Ferner, R.E., et al. Guidelines for the Diaganosis and Management of Individuals with Neurofibromatosis 1. Journal of Medical Genetics, vol. 44, 81-88, 2007.
Goldstein SM, Curiess RG, Donovan Post MJ: A New Sign of a Neurofibromatosis on Magnetic Resonance Imaging of Children. Arch Neurol. 46: 1222—1224, 1989.
MUNIOZ, L. TAC, Vega A, F. Forta e coles TC e RM en Neurofibromatosis análisis en 36 pacientes neuroimagen 1991: 281-288
Listernick R and Charrow J: Neurofibromatosis type 1 in childhood. J pediatr. 116: 845853, 1990.
Mirowitz SA, Satwork, Gado M: High-lntensity Basal Ganglia Lesions on T-1, Weighted MR Images in Neurofibromatosis. AJNR. 10:1159-1163, 1989.
Parry DM, Eldridge R. Laisar-Kupfer MI, et al Neurofibromatosis 2 (NF2) clinical characteristics of 63 affected individuals and clinical evidence for heterogency. Am J Med Genet 52: 450—461, 1994.
Senuelie, Altinors N, Kars Z: Association of Von Recklinghausen. Neurofibromatosis and Aqueduct stenosis, Neurosurgery, 24: 99-101, 1989.
The Committee of Brain Tumor Registry of Japan (1969-1993) ed. 10 Neurol Med Chir 40 (Supply) -106, 2000.
Tonsgard, J.H. Clinical Manifestations and Management of Neurofibromatosis Type 1. Seminars in Pediatric Neurology, volume 13, 2-7, 2006.