---
title: "Concurrent Neurofibromatosis Type 1 and Multiple Sclerosis in a Child: MRI, CSF, and 2024 Criteria"
id: "pubmed-42485588"
canonical_url: "https://medichelpline.com/clinical-feed/pubmed-42485588"
content_type: "clinical_feed_article"
specialty: "Neurology"
source_name: "PubMed / NCBI"
source_url: "https://pubmed.ncbi.nlm.nih.gov/42485588/"
doi: "10.1212/WNL.0000000000218240"
published_at: "2026-08-25T00:00:00.000Z"
evidence_level: "Case Reports"
license: "CC-BY-NC-4.0 / Informational Use"
---
# Concurrent Neurofibromatosis Type 1 and Multiple Sclerosis in a Child: MRI, CSF, and 2024 Criteria
## Provenance & Clinical Metadata
- **Canonical URL:** https://medichelpline.com/clinical-feed/pubmed-42485588
- **Specialty:** [Neurology](https://medichelpline.com/clinical-feed/neurology.md)
- **Primary Source:** PubMed / NCBI
- **Source URL:** [Original Journal Publication](https://pubmed.ncbi.nlm.nih.gov/42485588/)
- **DOI:** [10.1212/WNL.0000000000218240](https://doi.org/10.1212%2FWNL.0000000000218240)
- **Published At:** 2026-08-25T00:00:00.000Z
- **Evidence Rating:** Case Reports
## Executive GIST (TL;DR)
- Case report of a female pediatric patient with known **neurofibromatosis type 1 (NF1)** who developed evolving multifocal cerebral MRI lesions initially attributed to NF1-related focal areas of signal intensity. - Surveillance imaging demonstrated **periventricular** and **juxtacortical** lesions with transient contrast enhancement that over time produced a radiographic pattern concerning for demyelination. - Cerebrospinal fluid analysis identified **10 unique oligoclonal bands**, supporting an intrathecal immune response consistent with demyelinating disease. - The patient remained clinically asymptomatic for neurologic deficits despite active radiographic disease. - Treatment was started with **dimethyl fumarate**, later transitioned to **rituximab** because radiographic disease activity persisted. - Application of updated 2024 diagnostic criteria allowed a diagnosis of **multiple sclerosis (MS)** in this child despite lack of clinical attacks. - The **central vein sign** on MRI was used to help distinguish demyelinating lesions from NF1-related imaging findings. - Authors note that **NF1** and demyelinating processes can have overlapping and evolving clinical and MRI features, complicating diagnosis and management. - The report underscores the value of longitudinal imaging, CSF testing, and advanced MRI markers when differentiating NF1-associated lesions from **MS** in pediatric patients. - Specific patient age and additional clinical details were not reported in the abstract of the source article.
## Clinical Analysis & Structured Key Points
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Epub 2026 Jul 22. # Child Neurology: A Case of Concurrent Neurofibromatosis Type 1 and Multiple Sclerosis by 2024 Criteria [Alexandra Balshi](https://pubmed.ncbi.nlm.nih.gov/?term=Balshi+A&cauthor_id=42485588)[ 1 ](https://pubmed.ncbi.nlm.nih.gov/42485588/#full-view-affiliation-1 "Department of Neurology, Boston Children's Hospital, MA; and."), [Cesar Alves](https://pubmed.ncbi.nlm.nih.gov/?term=Alves+C&cauthor_id=42485588)[ 2 ](https://pubmed.ncbi.nlm.nih.gov/42485588/#full-view-affiliation-2 "Department of Radiology, Boston Children's Hospital, MA."), [Nicole J Ullrich](https://pubmed.ncbi.nlm.nih.gov/?term=Ullrich+NJ&cauthor_id=42485588)[ 1 ](https://pubmed.ncbi.nlm.nih.gov/42485588/#full-view-affiliation-1 "Department of Neurology, Boston Children's Hospital, MA; and."), [Leslie A Benson](https://pubmed.ncbi.nlm.nih.gov/?term=Benson+LA&cauthor_id=42485588)[ 1 ](https://pubmed.ncbi.nlm.nih.gov/42485588/#full-view-affiliation-1 "Department of Neurology, Boston Children's Hospital, MA; and.") Affiliations Expand ### Affiliations * 1 Department of Neurology, Boston Children's Hospital, MA; and. * 2 Department of Radiology, Boston Children's Hospital, MA. * PMID: **42485588** * DOI: [ 10.1212/WNL.0000000000218240 ](https://doi.org/10.1212/wnl.0000000000218240) Item in Clipboard Case Reports # Child Neurology: A Case of Concurrent Neurofibromatosis Type 1 and Multiple Sclerosis by 2024 Criteria Alexandra Balshi et al. Neurology. 2026. Show details Display options Display options Format Abstract PubMed PMID Neurology Actions * [ Search in PubMed ](https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurology%22%5Bjour%5D&sort=date&sort_order=desc) * [ Search in NLM Catalog ](https://www.ncbi.nlm.nih.gov/nlmcatalog?term=%22Neurology%22%5BTitle+Abbreviation%5D) * [ Add to Search ](https://pubmed.ncbi.nlm.nih.gov/42485588/) . 2026 Aug 25;107(4):e218240. doi: 10.1212/WNL.0000000000218240. Epub 2026 Jul 22. ### Authors [Alexandra Balshi](https://pubmed.ncbi.nlm.nih.gov/?term=Balshi+A&cauthor_id=42485588)[ 1 ](https://pubmed.ncbi.nlm.nih.gov/42485588/#short-view-affiliation-1 "Department of Neurology, Boston Children's Hospital, MA; and."), [Cesar Alves](https://pubmed.ncbi.nlm.nih.gov/?term=Alves+C&cauthor_id=42485588)[ 2 ](https://pubmed.ncbi.nlm.nih.gov/42485588/#short-view-affiliation-2 "Department of Radiology, Boston Children's Hospital, MA."), [Nicole J Ullrich](https://pubmed.ncbi.nlm.nih.gov/?term=Ullrich+NJ&cauthor_id=42485588)[ 1 ](https://pubmed.ncbi.nlm.nih.gov/42485588/#short-view-affiliation-1 "Department of Neurology, Boston Children's Hospital, MA; and."), [Leslie A Benson](https://pubmed.ncbi.nlm.nih.gov/?term=Benson+LA&cauthor_id=42485588)[ 1 ](https://pubmed.ncbi.nlm.nih.gov/42485588/#short-view-affiliation-1 "Department of Neurology, Boston Children's Hospital, MA; and.") ### Affiliations * 1 Department of Neurology, Boston Children's Hospital, MA; and. * 2 Department of Radiology, Boston Children's Hospital, MA. * PMID: **42485588** * DOI: [ 10.1212/WNL.0000000000218240 ](https://doi.org/10.1212/wnl.0000000000218240) Item in Clipboard Full text links Cite Display options Display options Format Abstract PubMed PMID ## Abstract We present a female pediatric patient with known neurofibromatosis type 1 (_NF1_) whose surveillance imaging began showing multifocal periventricular and juxtacortical lesions with transient enhancement, initially attributed to _NF1_ -related focal areas of signal intensity. Over time, the radiographic pattern raised concern for demyelinating disease. CSF studies revealed 10 unique oligoclonal bands. Despite the absence of neurologic symptoms, treatment with dimethyl fumarate was initiated and later transitioned to rituximab in the setting of ongoing active radiographic disease. Although the patient never developed clinical manifestations of demyelinating disease, updated diagnostic criteria now permit a diagnosis of multiple sclerosis. Central vein sign on MRI aided in differentiating radiographic features. This case illustrates how _NF1_ and demyelinating processes can have evolving and overlapping clinical and MRI features. [PubMed Disclaimer](https://pubmed.ncbi.nlm.nih.gov/disclaimer/) ## Similar articles * [ Seropositive Neuromyelitis Optica in a Case of Undiagnosed Ankylosing Spondylitis: A Neuro-Rheumatological Conundrum. ](https://pubmed.ncbi.nlm.nih.gov/35864917/) Ghosh Md R, Roy D, León-Ruiz M, Das S, Dubey S, Benito-León J.Ghosh Md R, et al.Qatar Med J. 2022 Jul 7;2022(3):29. doi: 10.5339/qmj.2022.29. eCollection 2022.Qatar Med J. 2022.PMID: 35864917Free PMC article. * [ MRI and laboratory features and the performance of international criteria in the diagnosis of multiple sclerosis in children and adolescents: a prospective cohort study. ](https://pubmed.ncbi.nlm.nih.gov/30169254/) Fadda G, Brown RA, Longoni G, Castro DA, O'Mahony J, Verhey LH, Branson HM, Waters P, Bar-Or A, Marrie RA, Yeh EA, Narayanan S, Arnold DL, Banwell B; Canadian Pediatric Demyelinating Disease Network.Fadda G, et al.Lancet Child Adolesc Health. 2018 Mar;2(3):191-204. doi: 10.1016/S2352-4642(18)30026-9. 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