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Coexistence of neurofibromatosis type I, multiple sclerosis, and ischemic stroke: A case report and literature review.

ABSTRACT: Neurofibromatosis type I and multiple sclerosis, when considered separately, are associated with a higher risk of cerebrovascular accident. The coexistence of neurofibromatosis type I and multiple sclerosis may lead to a further increase in cerebrovascular risk; however, this has not been reported in the literature. We report the case of a 37-year-old woman affected by both neurofibromatosis type I and multiple sclerosis: she was referred to our rehabilitation department because of a recent event of ischemic stroke. Moreover, we provide a comprehensive and updated review of all published cases reporting the coexistence of neurofibromatosis type I and multiple sclerosis to gather information regarding their association with cerebrovascular accidents.

SUBMITTER: Perucca L

PROVIDER: S-EPMC10901064 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature

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Coexistence of neurofibromatosis type I, multiple sclerosis, and ischemic stroke: A case report and literature review.

Perucca Laura L Morello Francesca F Robecchi Majnardi Antonio A

SAGE open medical case reports 20240227

Neurofibromatosis type I and multiple sclerosis, when considered separately, are associated with a higher risk of cerebrovascular accident. The coexistence of neurofibromatosis type I and multiple sclerosis may lead to a further increase in cerebrovascular risk; however, this has not been reported in the literature. We report the case of a 37-year-old woman affected by both neurofibromatosis type I and multiple sclerosis: she was referred to our rehabilitation department because of a recent even ...[more]

PMID: 38419798

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

Project description:IntroductionMultiple 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 presentationIn 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.ConclusionThis 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.

| S-EPMC10890804 | biostudies-literature

Neurofibromatosis type I and multiple myeloma coexistence: A possible link?

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| S-EPMC5907645 | biostudies-literature

Spinal neurofibromatosis with NF1 mutation in a classic neurofibromatosis type 1 family: A case report and literature review.

Project description:BackgroundSpinal neurofibromatosis (SNF) is a related form of Neurofibromatosis type 1 (NF1) with a low incidence. Here, we report a SNF patient with NF1 (OMIM *613113) mutation in a classic NF1 family to enrich the case data.MethodsWe presented the clinical data of a 27-year-old female suffered from SNF. Two NF1 individuals (the mother and the brother) in the patient's family were also described. In the SNF patient, tumors in cervical were removed by surgical operation after the spinal MRI evaluation. Hematoxylin-eosin staining and immunohistochemistry were performed to better characterize the excised tumors. NF1 exons of the patient and her NF1 families were further sequenced by the next-generation sequencing technology.ResultsThe patient developed irregular café-au-lait macules, multi-subcutaneous nodules, recurrent numbness, and weakness of both lower extremities. Multiple neurofibromas were found in the whole spine by spinal MRI. Tumor-like cells and hyperplasia of ganglion cells were found in the excised tissue by H&E staining and immunohistochemistry, respectively. One-year follow-up on the SNF patient showed that after the surgery lower limb pain, numbness and convulsion were completely relieved. A common germ-line pathogenic mutation (NM_000267.3:c.1721 + 3A>G) was found in both the SNF patient and her classic NF1 families.ConclusionA case of SNF with classic NF1 mutation in a classic NF1 family was identified for the first time, indicating that SNF may share the same gene mutation with NF1, while the different manifestation of NF1 and SNF may be related to gene modification.

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Molecular Characterization of Medulloblastoma in a Patient with Neurofibromatosis Type 1: Case Report and Literature Review.

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Project description:Coronaviruses are revealed to target the human respiratory system mainly. However, they also have neuro-invasive abilities and might spread from the respiratory system to the central nervous system. Herein, we report four patients with COVID-19 simultaneously diagnosed with acute ischemic stroke. There were four stroke cases with simultaneously diagnosis of Covid-19 till the April 14, 2020 in the city of Sakarya, Turkey. They were aged between 45 and 77 years. All four cases were likely to have contracted the virus in Sakarya. The patients had all commonly reported symptoms of Covid-19. Three patients have elevated D-dimer levels, and two of them had high C-reactive protein (CRP) levels. They were managed symptomatically for both the infection and the stroke. Our findings suggest that ischemic cerebrovascular diseases may simultaneously develop in the course of Covid-19 independently of the critical disease process. Increased inflammation predicted by CRP and D-dimer levels may play a role in the formation of ischemia. In particular, elder patients with prothrombotic risk factors should also be considered for the signs of cerebrovascular events in addition to infectious symptoms.

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Shared Gene Expression Between Multiple Sclerosis and Ischemic Stroke.

Project description:Patients with multiple sclerosis (MS) appear to have an increased risk of ischemic stroke (IS). Although MS and IS have very different phenotypes, gene-based and pathway-based analyses of large-scale genome-wide association studies (GWAS) have increasingly enhanced our understanding of these two diseases. Whether there are common molecular mechanisms connecting MS and IS is still unclear. Here, we describe the outcome of gene-based test and pathway-based analysis of GWAS datasets that explored potential gene expression links between MS and IS. After identifying significant gene sets individually of MS and IS, we performed pathway-based analysis in four biological pathway databases (KEGG, PANTHER, REACTOME, and WikiPathways) and GO categories. We discovered that there were 9 shared pathways between MS and IS in KEGG, 2 in PANTHER, 14 in REACTOME, 1 in WikiPathways, and 194 in GO annotations (p < 0.05). These results provide an improved understanding about possible shared mechanisms and treatments strategies for MS and IS. They also provide some basis for further studies of how these two diseases are linked at the molecular level.

| S-EPMC6379658 | biostudies-literature

Genetic Etiology Shared by Multiple Sclerosis and Ischemic Stroke.

Project description:Although dramatic progress has been achieved in the understanding and treatment of multiple sclerosis (MS) and ischemic stroke (IS), more precise and instructive support is required for further research. Recent large-scale genome-wide association studies (GWASs) have already revealed risk variants for IS and MS, but the common genetic etiology between MS and IS remains an unresolved issue. This research was designed to overlapping genes between MS and IS and unmask their transcriptional features. We designed a three-section analysis process. Firstly, we computed gene-based analyses of MS GWAS and IS GWAS data sets by VGEAS2. Secondly, overlapping genes of significance were identified in a meta-analysis using the Fisher's procedure. Finally, we performed gene expression analyses to confirm transcriptional changes. We identified 24 shared genes with Bonferroni correction (P combined < 2.31E-04), and five (FOXP1, CAMK2G, CLEC2D, LBH, and SLC2A4RG) had significant expression differences in MS and IS gene expression omnibus data sets. These meaningful shared genes between IS and MS shed light on the underlying genetic etiologies shared by the diseases. Our results provide a basis for in-depth genomic studies of associations between MS and IS.

| S-EPMC7348066 | biostudies-literature

Extracranial Vertebral Artery-Internal Jugular Vein-Spinal Vein Fistula in Neurofibromatosis Type I: Case Report and Literature Review.

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| S-EPMC9104120 | biostudies-literature

Minimal intervention for neurofibromatosis type I manifestations: A case report.

Project description:Introduction and importanceNeurofibromatosis type I (NF1, OMIM: 162200) is a benign, autosomal dominant, tumorigenic predisposing syndrome with variable manifestations. Both neurofibromatosis and soft tissue sarcomas are associated with the formation of hematomas. Moreover, skeletal manifestations of NF1 include focal or generalized forms and expansive or infiltrative growth types.Case presentationA 19-year-old NF1 female patient presented with an expanding post-traumatic facial hematoma that resembled a soft-tissue tumor at initial presentation. A congenital neck mass was noted ipsilateral to her craniofacial skeletal deformities. Multiple imaging modalities were used to aid diagnosis, and urgent surgical intervention of the expanding facial lesion was performed. Her neck lesion and skeletal deformities were monitored, and her recovery was uneventful at 1-year follow-up, with no progression.Clinical discussionA palpable, non-pulsatile soft tissue mass is a common clinical presentation with a diverse differential diagnosis. Despite the low incidence of post-traumatic vascular injuries and lesions in the maxillofacial region, neurofibromatosis-associated vasculopathy remains an underestimated and serious manifestation of NF1. The reported zygomatic arch deformity is believed to be unique. However, the NF1 tumor-associated skeletal malformations are not linearly related.ConclusionNF1 is a multisystem disorder necessitating an early multidisciplinary team approach. Minimal intervention can help convert an emergent operation into an urgent one and preclude the need for major surgery. The case illustrated a rare example of simultaneous affection of soft tissue and jaw bones in NF1 patients.

| S-EPMC10509802 | biostudies-literature

Case Report: Dengue Hemorrhagic Fever with Ischemic Stroke.

Project description:Several neurological manifestations are recognized in dengue infection, but stroke is a rare complication. We report a case of ischemic stroke in a patient with dengue hemorrhagic fever. A 52-year-old previously healthy male presented with a history of fever for 2 days, and left-sided weakness and numbness of sudden onset. MRI scanning showed a right-sided thalamic lacunar infarct. Diagnosis of dengue fever was made based on leuco-thrombocytopenia, positive dengue nonstructural protein-1 (NS-1) antigen, and positive dengue IgM antibodies. Severity of limb weakness correlated with the critical phase of dengue hemorrhagic fever (DHF). He was discharged home with good recovery from neurological symptoms and disability. Strokes are rare in dengue, and are mainly hemorrhagic strokes related to thrombocytopenia. Ischemic stroke is even rarer. More evidence is needed for confirmation of dengue as a pathogenic mechanism of ischemic stroke.

| S-EPMC8832929 | biostudies-literature

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