Literature DB >> 15448395

Neurofibromatosis type I: spinal neoplasia without symptoms.

Sheffali Gulati1, Surbhi Leekha, Arun K Gupta, Veena Kalra.   

Abstract

Neurofibromatosis1 (NF-1) or von Recklinghausen disease is the most common of the neurocutaneous syndromes. It is characterized by presence of hamartomas in multiple organs. Inheritance is autosomal dominant but spontaneous mutations are seen in half the cases. The authors are reporting a classical case of this syndrome with spinal neoplasia which was interestingly asymptomatic. Authorities seem to agree that because the risk of developing intradural disease is significant in patients with NF-1, a routine MRI of the entire spine should be obtained.

Entities:  

Mesh:

Year:  2004        PMID: 15448395     DOI: 10.1007/bf02730728

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN: 0019-5456            Impact factor:   1.967


  6 in total

1.  Hereditary spinal neurofibromatosis: a rare form of NF1?

Authors:  M Poyhonen; E L Leisti; S Kytölä; J Leisti
Journal:  J Med Genet       Date:  1997-03       Impact factor: 6.318

Review 2.  NIH conference. Neurofibromatosis 1 (Recklinghausen disease) and neurofibromatosis 2 (bilateral acoustic neurofibromatosis). An update.

Authors:  J J Mulvihill; D M Parry; J L Sherman; A Pikus; M I Kaiser-Kupfer; R Eldridge
Journal:  Ann Intern Med       Date:  1990-07-01       Impact factor: 25.391

3.  Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference.

Authors: 
Journal:  Arch Neurol       Date:  1988-05

4.  Spinal and paraspinal neurofibromatosis: surface coil MR imaging at 1.5 T1.

Authors:  D L Burk; J A Brunberg; E Kanal; R E Latchaw; G L Wolf
Journal:  Radiology       Date:  1987-03       Impact factor: 11.105

5.  A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene.

Authors:  E Ars; H Kruyer; A Gaona; P Casquero; J Rosell; V Volpini; E Serra; C Lázaro; X Estivill
Journal:  Am J Hum Genet       Date:  1998-04       Impact factor: 11.025

6.  Benign spinal nerve sheath tumors: their occurrence sporadically and in neurofibromatosis types 1 and 2.

Authors:  A L Halliday; R A Sobel; R L Martuza
Journal:  J Neurosurg       Date:  1991-02       Impact factor: 5.115

  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.