This report describes a female pediatric patient with an established diagnosis of neurofibromatosis type 1 (NF1) who underwent routine surveillance brain imaging. Over serial studies, new multifocal lesions were identified that prompted re-evaluation of the presumed NF1-related findings. The case highlights diagnostic complexity when NF1-associated MRI abnormalities and demyelinating disease features coexist.
Surveillance MRI demonstrated multiple new lesions located in periventricular and juxtacortical white matter. Some lesions showed transient contrast enhancement. Initially, these foci were attributed to NF1-associated focal areas of signal intensity, a known radiographic manifestation in children with NF1. However, the pattern of lesions evolved on subsequent imaging in a manner that raised concern for an alternative or concurrent process—specifically a demyelinating disease.
Cerebrospinal fluid (CSF) analysis revealed 10 unique oligoclonal bands. The presence of multiple oligoclonal bands is evidence of intrathecal immunoglobulin synthesis and is commonly used as supportive laboratory evidence in the assessment of demyelinating disorders such as multiple sclerosis (MS). The abstract reports this laboratory finding but does not provide additional CSF indices, serologies, or specific numerical values beyond the band count.
Although the patient did not develop clinical neurologic symptoms attributable to demyelination, disease-modifying therapy was initiated because of ongoing radiographic activity. Initial therapy was dimethyl fumarate. With continued active radiographic disease, treatment was later transitioned to rituximab. The abstract does not provide dosing details, treatment durations, timing of the switch, or safety and outcome data beyond the change in therapy.
The authors report that application of updated 2024 diagnostic criteria permitted a diagnosis of multiple sclerosis in this patient despite the absence of clinical manifestations. The abstract does not list the specific criteria elements applied or the full diagnostic algorithm used, but it emphasizes that revised diagnostic frameworks can allow an MS diagnosis based on radiographic and paraclinical evidence alone in selected cases.
The abstract notes that the central vein sign on MRI was helpful in distinguishing demyelinating lesions from NF1-related signal changes. The central vein sign is an imaging marker observed within white matter lesions that can support a diagnosis of MS when present. Details on imaging sequences, the proportion of lesions showing the central vein sign, or quantitative imaging metrics are not provided in the abstract.
This case illustrates several practical points for clinicians managing children with NF1 who develop new or changing MRI lesions:
The information available in the abstract is concise and omits several clinical and technical details relevant to interpretation and replication:
For full methodological and clinical details, the full text is cited as available through the journal link provided in the source record. The abstract itself contains the core observations reported here but lacks granular data on imaging protocols, therapeutic regimens, and longitudinal clinical follow-up.