Multiple sclerosis and neurofibromatosis type 1: report of seven patients from Iran

Abstract

Introduction

Co-occurrence of multiple sclerosis (MS) and neurofibromatosis type 1 (NF1) is rare.

Case reports

In this study, we describe the clinical and neuroimaging features of seven patients with NF1 and MS. In our patients, six patients with MS were women, in all of them history of NF1 existed. Three of our patients had primary progressive, one had secondary progressive MS, and three relapsing–remitting MS. Optic neuritis as presenting symptoms was seen in three patients, and motor manifestation as presenting symptom was observed in three patients. The risk of having both NF1 and MS seemed to be higher than would be expected based on the prevalence rates of the two diseases in the general population.

Conclusion

The findings of this study suggest a possible casual relationship between MS and NF1, indicating higher risk of MS among patients with NF1.

Keywords

autoimmune Iran multiple sclerosis neurofibromatosis

Get full access to this article

View all access options for this article.

References

1 Perini P Gallo P . The range of multiple sclerosis associated with neurofibromatosis type 1. J Neurol Neurosurg Psychiatry 2001; 71: 679–681.

2 Feuillet L Boudinet H Casseron W Uzenot D Pelletier J Ali CA . Multiple sclerosis associated with neurofibromatosis type I. Rev Neurol (Paris) 2004; 160(Pt 1): 447–451.

3 Yohay K . Neurofibromatosis types 1 and 2. Neurologist 2006; 12: 86–93.

4 Ferner RE . Neurofibromatosis 1. Eur J Hum Genet 2007; 15: 131–138.

5 Yunoue S Tokuo H Fukunaga K . Neurofibromatosis type I tumor suppressor neurofibromin regulates neuronal differentiation via its GTPase-activating protein function toward Ras. J Biol Chem 2003; 278: 26958–26969.

6 Noseworthy JH Lucchinetti C Rodriguez M Weinshenker BG . Multiple sclerosis. N Engl J Med 2000; 343: 938–952.

7 Kurtzke JF . Multiple sclerosis: changing times. Neuroepidemiology 1991; 10: 1–8.

8 Neurofibromatosis. Conference statement. National institutes of health consensus development conference. Arch Neurol 1988; 45: 575–578.

9 Polman CH Reingold SC Edan G . Diagnostic criteria for multiple sclerosis: 2005 revisions to the “McDonald Criteria”. Ann Neurol 2005; 58: 840–846.

10.

10 Alfonso S Roquer J Pou A . Multiple sclerosis and neurofibromatosis 1. Neurologia 1996; 11: 233–235.

11.

11 Ferner RE Hughes RA Johnson MR . Neurofibromatosis 1 and multiple sclerosis. J Neurol Neurosurg Psychiatry 1995; 58: 582–585.

12.

12 Johnson MR Ferner RE Bobrow M Hughes RA . Detailed analysis of the oligodendrocyte myelin glycoprotein gene in four patients with neurofibromatosis 1 and primary progressive multiple sclerosis. J Neurol Neurosurg Psychiatry 2000; 68: 643–646.

13.

13 Masson C Colombani JM . Neurofibromatosis I and multiple sclerosis. Apropos of a case. Rev Neurol (Paris) 1997; 153: 684–686.

14.

14 Pal E Gomori EE Gati I . Neurofibromatosis and glioblastoma in a case of multiple sclerosis. Eur J Neurol 2001; 8: 717–718.

15.

15 Habib AA Gulcher JR Hognason T Zheng L Stefansson K . The OMgp gene, a second growth suppressor within the NF1 gene 1. Oncogene 1998; 16: 1525–1531.

16.

16 Hinks LJ Price SE Mason CR Thompson RJ . Single strand conformation analysis of two genes contained within the first intron of the neurofibromatosis type I gene in patients with multiple sclerosis. Neuropathol Appl Neurobiol 1995; 21: 201–207.

17.

17 Zhu Y Ghosh P Charnay P Burns DK Parada LF . Neurofibromas in NF1: Schwann cell origin and role of tumor environment. Science 2002; 296: 920–922.

18.

18 Feldmann R Denecke J Grenzebach M Schuierer G Weglage J . Neurofibromatosis type 1: motor and cognitive function and T2-weighted MRI hyperintensities. Neurology 2003; 61: 1725–1728.

19.

19 DeBella K Poskitt K Szudek J Friedman JM . Use of “unidentified bright objects” on MRI for diagnosis of neurofibromatosis 1 in children. Neurology 2000; 54: 1646–1651.

20.

20 Ferner RE Chaudhuri R Bingham J Cox T Hughes RA . MRI in neurofibromatosis 1. The nature and evolution of increased intensity T2 weighted lesions and their relationship to intellectual impairment. J Neurol Neurosurg Psychiatry 1993; 56: 492–495.