scholarly journals Relapsing remitting multiple sclerosis in an Iranian patient with neurofibromatosis type I

2015 ◽  
Vol 7 (2) ◽  
Author(s):  
Nafiseh Mohebi ◽  
Mehdi Moghaddasi ◽  
Maryam Zaribafian
Keyword(s):  
Multiple Sclerosis ◽  
Gene Mutations ◽  
Neurofibromatosis Type ◽  
Type I ◽  
Efficient Treatment ◽  
Iranian Patient ◽  
Relapsing Remitting ◽  
History Of ◽  
Relapsing Remitting Multiple Sclerosis

Neurofibromatosis type 1 (NF-1) is a common hereditary neuro-cutaneous disease, with known gene mutations, that mainly involves the skin and nervous system. Multiple sclerosis (MS) is an acquired inflammatory disease in which the myelin of nerve cells in the brain and spinal cord is damaged. These two disease do not share any apparent pathological similarities. We herein present a 32-year-old woman with definite NF-1, who has recently been diagnosed with MS, which to the best of our knowledge is a rare co-occurrence. Though there are often neurologic sign and symptoms in patients with NF-1, they should not always be considered as the natural history of the disease, and other overlapped pathologies should be kept in mind, in order to not miss or postpone the efficient treatment.

scholarly journals Neurofibromatosis Type 1 with Highly Active Relapsing-Remitting Multiple Sclerosis (RRMS)

2021 ◽  
Author(s):  
Silvia Ciotti ◽  
Antonella Cometa ◽  
Claudia De Carlo ◽  
Giancarlo Martini ◽  
Andrea Marona ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Neurofibromatosis Type 1 ◽  
Demyelinating Disease ◽  
Neurofibromatosis Type ◽  
Lower Limbs ◽  
Increased Risk ◽  
Relapsing Remitting ◽  
Remitting Multiple Sclerosis ◽  
Relapsing Remitting Multiple Sclerosis

Neurofibromatosis type 1 (NF1) is an autosomal dominant neurocutaneous disease which confers an increased risk of malignant tumour development. Relapsing remitting multiple sclerosis (RRMS) is an inflammatory demyelinating disease of the central nervous system. The coexistence of multiple sclerosis and NF1 is rare but has been reported. Here, we describe the case of a 31-year-old man with NF1 and subacute walking problems with proximal pain in the lower limbs who was successfully treated with natalizumab.

scholarly journals NEUROFIBROMATOSIS TYPE 1 IN MULTIPLE SCLEROSIS IN SAUDI ARABIA: CASE REPORT AND LITERATURE REVIEW

2021 ◽  
Vol 9 (5) ◽  
pp. 832-837
Author(s):  
Kawther Hadhiah ◽  
◽  
Abdulla Al-Fajri ◽  
Hassan Ali Al-Dandan ◽  
Jumana Al-Atiya ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Neurofibromatosis Type 1 ◽  
Neurological Diseases ◽  
Spontaneous Mutation ◽  
Neurofibromatosis Type ◽  
Type I ◽  
Autosomal Dominant Disorder ◽  
Radiological Criteria ◽  
Relapsing Remitting

Background: Neurofibromatosis type I(NF1) is a neurocutaneous autosomal dominant disorder that has variable skin and neurological manifestation and Multiple sclerosis (MS) is not among these neurological sequalae of Neurofibromatosis. Only 26 cases have been reported worldwide to have the combination of these two neurological diseases, and none of them from Saudi Arabia.We are presenting a young lady who was diagnosed to have Multiple Sclerosis, Relapsing remitting form as she is fitting the clinical and the radiological criteria, and by the age of 29 years, she was thoroughly investigated for multiple café au lait spot lesions in the trunk and neurofibromas and history of childhood seizures. Case Presentation:29-year-old lady who was diagnosed to have Relapsing- Remitting Multiple Sclerosis (RRMS) 7 years ago as she is fulfilling the clinical and radiological criteria of Multiple sclerosis and maintained on Interferon beta 1a 44 mcg subcutaneous every other day then shifted to Fingolimod. Upon encountering her in the clinic, there were multiple café au lait spot lesions in the trunk and neurofibromas. Genetic testing showed pathogenic nonsense variant c.574C>T p.(Arg192*) in exon 5 of the NF1 gene. Conclusion:Relapsing remitting form of multiple sclerosis (RRMS) can be associated with Neurofibromatosis type 1(NF1), not only progressive form and NF1 can be related to spontaneous mutation in 50% of cases (no family history).

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

2009 ◽  
Vol 15 (9) ◽  
pp. 1126-1130 ◽  
Author(s):  
M Etemadifar ◽  
F Fatehi ◽  
MA Sahraian ◽  
A Borhanihaghighi ◽  
PM Ardestani ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Neurofibromatosis Type 1 ◽  
Case Reports ◽  
Neurofibromatosis Type ◽  
Presenting Symptoms ◽  
Secondary Progressive ◽  
Relapsing Remitting ◽  
History Of ◽  
Casual Relationship

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.

scholarly journals The STING-IFN-β-Dependent Axis Is Markedly Low in Patients with Relapsing-Remitting Multiple Sclerosis

2020 ◽  
Vol 21 (23) ◽  
pp. 9249
Author(s):  
Lars Masanneck ◽  
Susann Eichler ◽  
Anna Vogelsang ◽  
Melanie Korsen ◽  
Heinz Wiendl ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Type I ◽  
Autoimmune Encephalomyelitis ◽  
Beneficial Effects ◽  
Endogenous Production ◽  
Relapsing Remitting ◽  
Peripheral Lymphoid Tissue ◽  
The Central Nervous System ◽  
Peripheral Immune Cells ◽  
Relapsing Remitting Multiple Sclerosis

Cyclic GMP-AMP-synthase is a sensor of endogenous nucleic acids, which subsequently elicits a stimulator of interferon genes (STING)-dependent type I interferon (IFN) response defending us against viruses and other intracellular pathogens. This pathway can drive pathological inflammation, as documented for type I interferonopathies. In contrast, specific STING activation and subsequent IFN-β release have shown beneficial effects on experimental autoimmune encephalomyelitis (EAE) as a model for multiple sclerosis (MS). Although less severe cases of relapse-remitting MS (RRMS) are treated with IFN-β, there is little information correlating aberrant type I IFN signaling and the pathologic conditions of MS. We hypothesized that there is a link between STING activation and the endogenous production of IFN-β during neuroinflammation. Gene expression analysis in EAE mice showed that Sting level decreased in the peripheral lymphoid tissue, while its level increased within the central nervous system over the course of the disease. Similar patterns could be verified in peripheral immune cells during the acute phases of RRMS in comparison to remitting phases and appropriately matched healthy controls. Our study is the first to provide evidence that the STING/IFN-β-axis is downregulated in RRMS patients, meriting further intensified research to understand its role in the pathophysiology of MS and potential translational applications.

Ingested IFN-α has biological effects in humans with relapsing-remitting multiple sclerosis

1997 ◽  
Vol 3 (1) ◽  
pp. 1-7 ◽  
Author(s):  
Staley A Brod ◽  
Ronald H Kerman ◽  
Laura D Nelson ◽  
Gailen D Marshall ◽  
Evelyn M Henninger ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Disease Activity ◽  
Biological Effects ◽  
Intercellular Adhesion Molecule ◽  
Type I ◽  
Recombinant Type ◽  
Relapsing Remitting ◽  
Ifn Γ ◽  
Remitting Multiple Sclerosis ◽  
Relapsing Remitting Multiple Sclerosis

Parenterally administered human recombinant type I interferons (hrIFN) in relapsing-remitting multiple sclerosis (RRMS) decrease relapses and spontaneous in vitro IFN-γ production, reduce clinical progression, and decrease magnetic resonance imaging (MRI)-defined disease activity and lesions. Parenterally administered type I IFN use is limited by clinical and chemical toxicities, and the induction of antibodies that abrogate their activity in vivo correlated with the loss of clinical benefit. Therefore, we determined whether ingested IFN-α was non-toxic and had biological effects in humans. ingested hrIFN-α showed no toxicity in normal volunteers or patients with RRMS at doses ranging from 300 to 100 000 units. In subjects with RRMS, a significant decrease in Con A-mediated proliferation and serum soluble intercellular adhesion molecule-I (sICAM-I), a surrogate measure for disease activity in MS, was found after ingesting 10 000 and 30 000 units IFN-α The RRMS subjects also showed decreased IL-2 secretion after ingesting 10 000 units IFN-α, and decreased IFN-γ, TGF-β and IL-10 production after ingesting 30 000 units IFN-α. The decreased secretion of IFN-γ and IL-2 by ingested IFN-α suggests that oral IFN-α may cause a functional inhibition of Th I-like T helper cells in RRMS, a potential site of intervention at the level of effector T cells in MS. Our studies support the oral use of human IFN-α as a biological response modifier in humans.

Acute exacerbation of multiple sclerosis presenting with facial metamorphopsia and palinopsia

2012 ◽  
Vol 19 (3) ◽  
pp. 369-371 ◽  
Author(s):  
Deepti Anbarasan ◽  
Jonathan Howard
Keyword(s):  
Multiple Sclerosis ◽  
Visual Pathway ◽  
Brain Lesions ◽  
Ophthalmological Examination ◽  
Occipital Region ◽  
Relapsing Remitting ◽  
History Of ◽  
Association Area ◽  
Relapsing Remitting Multiple Sclerosis ◽  
Optic Radiations

We discuss the case of a patient with a known history of relapsing–remitting multiple sclerosis (MS) who presented with the isolated complaint of altered visual perception in the absence of abnormalities on ophthalmological examination. To the best of the authors’ knowledge, this is the first documented case of both facial metamorphopsia and palinopsia occurring as the symptoms of demyelinating brain lesions consistent with an acute MS exacerbation. These symptoms appear to be related to active demyelination that either involved the optic radiations in the visual pathway or the visual association area in the temporo-occipital region of the left hemisphere.

scholarly journals Subcutaneous interferon β-1a three times weekly and the natural evolution of gadolinium-enhancing lesions into chronic black holes in relapsing and progressive multiple sclerosis: Analysis of PRISMS and SPECTRIMS trials

2017 ◽  
Vol 3 (4) ◽  
pp. 205521731774534
Author(s):  
A Traboulsee ◽  
DKB Li ◽  
R Tam ◽  
G Zhao ◽  
A Riddehough ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Black Holes ◽  
Progressive Multiple Sclerosis ◽  
Repair Capacity ◽  
Relapsing Remitting ◽  
Mri Scans ◽  
History Of ◽  
Lesion Level ◽  
Post Hoc ◽  
Relapsing Remitting Multiple Sclerosis

Background Evolution of gadolinium-enhancing lesions into chronic black holes (CBH) may be reduced by interferon (IFN) therapy. Objective The objective of this paper is to assess the effect of IFN β-1a and placebo on CBH evolution and disability in patients with relapsing–remitting multiple sclerosis (RRMS), as well as CBH evolution in patients with secondary progressive multiple sclerosis (SPMS). Methods A post hoc, exploratory analysis of patients with RRMS and SPMS with monthly MRI scans (months –1 to 9) from two separate placebo-controlled clinical trials of IFN β-1a was conducted. Results In RRMS patients, the risk of ≥1 evolved CBH was lower for IFN β-1a versus placebo (odds ratio 0.42; p = 0.024); volume of newly evolved CBH was numerically reduced. A numerically higher proportion of patients with ≥1 evolving CBH vs no evolving CBH had confirmed three-month disability progression (four-year rate 55.8% vs 43.1%, respectively). Proportion of lesions evolving into CBH (patient level: 34.7% vs 12.6%, p < 0.0001; lesion level: 28.8% vs 11.0%, p < 0.0001) and evolved CBH volume (median 33.5 mm3 (Quartile 1, 0.0; Quartile 3, 173.4) vs 0.0 mm3 (0.0; 52.4); p = 0.0008) was higher for SPMS than RRMS patients treated with IFN β-1a. Conclusion In RRMS, IFN β-1a significantly decreased the proportion of new T1 Gd+ lesions evolving into CBH and the risk of developing a CBH. In patients with SPMS, more lesions develop to CBH, indicating reduced repair capacity, and the natural history of lesion development appears to be unaffected by IFN β-1a treatment.

scholarly journals Detection of a new melanoma in a patient treated with fingolimod

2019 ◽  
Vol 12 (4) ◽  
pp. e227951 ◽  
Author(s):  
Yves Michiels ◽  
Olivier Bugnon ◽  
Jean-François Michiels ◽  
Sophie Mazellier
Keyword(s):  
Multiple Sclerosis ◽  
Sun Exposure ◽  
Superficial Spreading ◽  
Brown Hair ◽  
Skin Cancers ◽  
Relapsing Remitting ◽  
History Of ◽  
Blue Eyes ◽  
Relapsing Remitting Multiple Sclerosis

In addition to the TRANSFORMS, FREEDOMS, INFORMS studies, very few publications have identified new cases of skin cancer in patients treated with fingolimod. Here, we present the case of a 52-year-old Caucasian patient with relapsing remitting multiple sclerosis for 19 years, with a phototype II with blue eyes, light brown hair, no personal or family history of melanoma and a low number of naevi (<10). She did not experience intense sun exposure in childhood as well as severe sunburn and did not practise sessions in ultraviolet cabins. This case is distinguished from other published cases, usually superficial spreading malignant melanoma by its unclassifiable histological character. The occurrence of skin cancers in patients with multiple sclerosis remains exceptional, but new cases have recently emerged requiring the strengthening of dermatological follow-up of such patients.

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