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

Ciotti, Silvia; Cometa, Antonella; Carlo, Claudia De; Martini, Giancarlo; Marona, Andrea; Filippetti, Laura; Carducci, Diego; Baratta, Silvano; Zampolini, Mauro; Corea, Francesco

doi:10.12890/2021_002190

Cited by 2 publications

(4 citation statements)

References 6 publications

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“…NF1 can present with several neurological manifestations, such as epilepsy, intellectual disability, vision loss, macrocephaly, bowel/bladder dysfunction, and/or motor weakness. However, the demyelinating lesions of our patient do not fit this disease and we intend to draw attention to the fact that not all neurological symptoms can be attributed to NF1 [4,[13][14][15].…”

Section: Discussionmentioning

confidence: 80%

“…One of the postulated theories for this association is related to a mutation in the oligodendrocyte myelin glycoprotein (OMG) gene that is embedded within intron 27b of the NF1 gene, encoded on chromosome 17q11.2. OMG is essential for myelination and could be dysfunctional in patients with NF1, leading to demyelination in MS-susceptible patients [10][11][12][13][14][15]. However, given that not all patients with PPMS have shown this mutation and that it was found in healthy controls, this cannot be the only explanation for this association [4,10,11].…”

Section: Discussionmentioning

confidence: 99%

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Primary Progressive Multiple Sclerosis in a Portuguese Patient With Neurofibromatosis Type 1

Carvalho¹,

Quintas-Neves²,

Pinto³

et al. 2021

Cureus

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Neurofibromatosis type 1 (NF1) is a frequent genetic neurocutaneous syndrome and multiple sclerosis (MS) is an acquired demyelinating disease of the central nervous system. The association of both these diseases is rare. In this case report, we describe a 25-year-old man with gait impairment, upper limbs tremor, slurred speech, and urinary symptoms in the form of urinary urgency and incontinence. These symptoms started a year earlier and had a progressive course. Examination revealed scattered café-au-lait spots, right ptosis, bilateral horizontal and vertical nystagmus, mild dysarthria, quadriparesis with generalized hyperreflexia and bilateral Babinski signs, upper limb tremor, bilateral proprioceptive errors, bilateral appendicular dysmetria, and severe gait ataxia. Brain MRI showed lesions involving the deep and subcortical white matter, as well as thalami, with no enhancement after administration of gadolinium, suggestive of focal areas of signal intensity (FASI) in the setting of NF1. There were also oval lesions in the periventricular white matter, perpendicular to the ventricles and involving the corpus callosum, which were atypical for FASI. Spinal MRI also demonstrated several lesions, which mildly enhance after administration of gadolinium. Cerebrospinal fluid (CSF) examination revealed mild lymphocytic pleocytosis (18/μL), mildly elevated protein (0.53 g/L), normal glucose, and positive oligoclonal IgG bands. Extensive laboratory workup, including microbiological CSF studies, aquaporin-4-IgG, myelin-oligodendrocyte glycoprotein-IgG, autoimmune screening, and viral serology, was negative. The genetic study revealed a new mutation in the NF1 gene that was not previously reported. We intend to discuss the genetic and autoimmune mechanisms by which MS and NF1 appear to be related and draw attention to this association because a timely diagnosis of MS is important to prevent further disability in NF1 patients.

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Section: Discussionmentioning

confidence: 80%

Section: Discussionmentioning

confidence: 99%

Primary Progressive Multiple Sclerosis in a Portuguese Patient With Neurofibromatosis Type 1

Carvalho¹,

Quintas-Neves²,

Pinto³

et al. 2021

Cureus

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“…Currently, there is only one published study that demonstrates a highly active MS and NF1 patient adequately controlled with natalizumab [11], and further work is needed to establish the relative risk of cancer in MS patients receiving DMTs, as well as comparative studies on the effectiveness of different DMTs in highly active RRMS. This can give objective guidance on the prevention of neurological disability in patients who are predisposed to cancer, as in this case.…”

Section: Discussionmentioning

confidence: 99%

“…This risk, however, can be further magnified in the presence of a tumour-predisposing condition like NF1. As patients with NF1 have a 10-12% overall risk of developing a malignancy [11], clinicians need to balance out the therapy-associated risk of cancer with the prevention of MS-associated neurological disability in patients diagnosed with both conditions. This is particularly challenging due to the rarity of these cases, but also due to the lack of an established relative risk of malignancy in MS patients taking long-term DMTs.…”

Section: Discussionmentioning

confidence: 99%

Highly Active Relapsing-Remitting Multiple Sclerosis with Neurofibromatosis Type 1: Radiological Aspects and Therapeutic Challenges – Case Report

Lemonaris,

Kleopa

2024

Case Rep Neurol

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Introduction: Multiple sclerosis (MS) is an autoimmune neurodegenerative disease which can rarely co-exist with neurofibromatosis 1 (NF1), a neurocutaneous inherited disorder that predisposes to oncogenesis. Patients who suffer from both conditions can be challenging cases for clinicians, as clinical symptoms and radiological findings may overlap, while MS immune-modifying treatments could further increase the risk of oncogenesis. Case Presentation: In this study, we describe the case of a 27-year-old woman who presented with signs and symptoms of optic neuritis and was then diagnosed with both MS and NF1. As the patient continued to experience MS relapses despite initial interferon-beta treatment, she was subsequently switched to natalizumab and responded well. Conclusion: This case illustrates how MRI lesion differentiation with the co-existence of MS and NF1 can be difficult due to overlaps in lesion characteristics, while treatment decisions can be challenging mainly due to scarce data on the oncogenic risk of MS immunomodulary therapies. Therefore, clinicians need to balance out the risk of malignancy development with the risk of progressive neurological disability when treating such patients.

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

Cited by 2 publications

References 6 publications

Primary Progressive Multiple Sclerosis in a Portuguese Patient With Neurofibromatosis Type 1

Primary Progressive Multiple Sclerosis in a Portuguese Patient With Neurofibromatosis Type 1

Highly Active Relapsing-Remitting Multiple Sclerosis with Neurofibromatosis Type 1: Radiological Aspects and Therapeutic Challenges – Case Report

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