An atypical presentation of infiltrative diffuse low-grade glioma in an adolescent: case report
Abstract Background Diffuse low-grade gliomas (dLGG) are rare slow growing brain tumors. Symptoms associated with dLGG typically include seizures, hemiparesis, ataxia, behavioral changes, headaches, and tremors. In this study, we present the case of a thirteen-year-old male admitted to the National...
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2025-07-01
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| Online Access: | https://doi.org/10.1186/s12883-025-04259-5 |
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| author | Zoe Wolfenson Daniel Benavides Connor J. Lewis Gilbert Vezina Lynne Wolfe Ellen Macnamara John Yang John D. Heiss Kenneth Aldape Chris Dampier Sadhana Jackson Robert Stone David Korones William A. Gahl Maria T. Acosta |
| author_facet | Zoe Wolfenson Daniel Benavides Connor J. Lewis Gilbert Vezina Lynne Wolfe Ellen Macnamara John Yang John D. Heiss Kenneth Aldape Chris Dampier Sadhana Jackson Robert Stone David Korones William A. Gahl Maria T. Acosta |
| author_sort | Zoe Wolfenson |
| collection | DOAJ |
| description | Abstract Background Diffuse low-grade gliomas (dLGG) are rare slow growing brain tumors. Symptoms associated with dLGG typically include seizures, hemiparesis, ataxia, behavioral changes, headaches, and tremors. In this study, we present the case of a thirteen-year-old male admitted to the National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP). To the best of our knowledge, this is one of the only documented cases of an adult-type dLGG diagnosed in a pediatric patient with monitoring of tumor progression for nearly a decade prior to diagnosis. Case presentation The patient presented with a history of progressive signal abnormalities on brain magnetic resonance imaging (MRI), refractory to treatment attention deficit hyperactivity disorder (ADHD) and Oppositional Defiant Disorder (ODD), headaches, irritability, and difficulties sleeping. His detailed neurological exam was normal. Following six years of repeated MRI demonstrating increasing infiltrative tumor mass effect throughout gray and white matter, a brain biopsy was performed. The brain biopsy showed white and gray matter with mildly hypercellular areas, and tumor DNA sequencing showed the presence of a canonical IDH1 mutation. A “watch and wait” approach was adopted resulting from discussions between the patient and his family alongside the medical team with repeated quarterly brain MRI to monitor symptoms and tumor growth. Conclusion While behavioral and psychiatric changes are common in brain tumor patients, they typically present alongside neurological symptoms which emphasizes the difficulty in diagnosing cases like this patient’s. Low-grade malignancies should be part of the differential diagnosis in cases with progressive multifocal white matter lesions, despite the absence of the typical neurological focal signs. |
| format | Article |
| id | doaj-art-d7dc12e6235940b79f1b80c6bfb4bd19 |
| institution | Kabale University |
| issn | 1471-2377 |
| language | English |
| publishDate | 2025-07-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Neurology |
| spelling | doaj-art-d7dc12e6235940b79f1b80c6bfb4bd192025-08-20T03:38:18ZengBMCBMC Neurology1471-23772025-07-012511510.1186/s12883-025-04259-5An atypical presentation of infiltrative diffuse low-grade glioma in an adolescent: case reportZoe Wolfenson0Daniel Benavides1Connor J. Lewis2Gilbert Vezina3Lynne Wolfe4Ellen Macnamara5John Yang6John D. Heiss7Kenneth Aldape8Chris Dampier9Sadhana Jackson10Robert Stone11David Korones12William A. Gahl13Maria T. Acosta14Undiagnosed Diseases Program, National Institutes of HealthUndiagnosed Diseases Program, National Institutes of HealthNational Human Genome Research Institute, National Institutes of HealthUndiagnosed Diseases Program, National Institutes of HealthUndiagnosed Diseases Program, National Institutes of HealthUndiagnosed Diseases Program, National Institutes of HealthNational Human Genome Research Institute, National Institutes of HealthSurgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of HealthPediatric Oncology Branch, National Cancer Institute, National Institutes of HealthPediatric Oncology Branch, National Cancer Institute, National Institutes of HealthSurgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of HealthDepartment of Pediatrics, Department of Neurology, University of RochesterDepartment of Pediatrics, Pediatric Palliative Care, University of RochesterUndiagnosed Diseases Program, National Institutes of HealthUndiagnosed Diseases Program, National Institutes of HealthAbstract Background Diffuse low-grade gliomas (dLGG) are rare slow growing brain tumors. Symptoms associated with dLGG typically include seizures, hemiparesis, ataxia, behavioral changes, headaches, and tremors. In this study, we present the case of a thirteen-year-old male admitted to the National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP). To the best of our knowledge, this is one of the only documented cases of an adult-type dLGG diagnosed in a pediatric patient with monitoring of tumor progression for nearly a decade prior to diagnosis. Case presentation The patient presented with a history of progressive signal abnormalities on brain magnetic resonance imaging (MRI), refractory to treatment attention deficit hyperactivity disorder (ADHD) and Oppositional Defiant Disorder (ODD), headaches, irritability, and difficulties sleeping. His detailed neurological exam was normal. Following six years of repeated MRI demonstrating increasing infiltrative tumor mass effect throughout gray and white matter, a brain biopsy was performed. The brain biopsy showed white and gray matter with mildly hypercellular areas, and tumor DNA sequencing showed the presence of a canonical IDH1 mutation. A “watch and wait” approach was adopted resulting from discussions between the patient and his family alongside the medical team with repeated quarterly brain MRI to monitor symptoms and tumor growth. Conclusion While behavioral and psychiatric changes are common in brain tumor patients, they typically present alongside neurological symptoms which emphasizes the difficulty in diagnosing cases like this patient’s. Low-grade malignancies should be part of the differential diagnosis in cases with progressive multifocal white matter lesions, despite the absence of the typical neurological focal signs.https://doi.org/10.1186/s12883-025-04259-5Diffuse low-grade gliomaUndiagnosed diseasesAttention deficit hyperactivity disorderMagnetic resonance imaging |
| spellingShingle | Zoe Wolfenson Daniel Benavides Connor J. Lewis Gilbert Vezina Lynne Wolfe Ellen Macnamara John Yang John D. Heiss Kenneth Aldape Chris Dampier Sadhana Jackson Robert Stone David Korones William A. Gahl Maria T. Acosta An atypical presentation of infiltrative diffuse low-grade glioma in an adolescent: case report BMC Neurology Diffuse low-grade glioma Undiagnosed diseases Attention deficit hyperactivity disorder Magnetic resonance imaging |
| title | An atypical presentation of infiltrative diffuse low-grade glioma in an adolescent: case report |
| title_full | An atypical presentation of infiltrative diffuse low-grade glioma in an adolescent: case report |
| title_fullStr | An atypical presentation of infiltrative diffuse low-grade glioma in an adolescent: case report |
| title_full_unstemmed | An atypical presentation of infiltrative diffuse low-grade glioma in an adolescent: case report |
| title_short | An atypical presentation of infiltrative diffuse low-grade glioma in an adolescent: case report |
| title_sort | atypical presentation of infiltrative diffuse low grade glioma in an adolescent case report |
| topic | Diffuse low-grade glioma Undiagnosed diseases Attention deficit hyperactivity disorder Magnetic resonance imaging |
| url | https://doi.org/10.1186/s12883-025-04259-5 |
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