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<p>Tumefactive demyelinating lesion (TDL) is a rare atypical variant of multiple sclerosis, an autoimmune disorder characterized by inflammation and demyelination of the central nervous system. TDL refers to a demyelinating lesion in the central nervous system larger than 2&#xa0;cm. Radiological diagnosis is difficult due to its variable presentation. Clinically, it presents with mass effects and symptoms related to the size and location of the lesion, including cognitive, motor, sensory, and cerebellar deficits. We reported a case of a 29-year-old female who presented with headaches, seizures, and blurry vision. On examination, the patient was vitally stable and oriented. She had reduced visual acuity with mild bilateral optic disc swelling. Contrast-enhanced MRI of the brain showed an irregular peripheral ring-enhanced, central hypointense lesion of 5.7 × 4.6 × 5.2&#xa0;cm on T2/FLAIR in the left occipito-parietal lobe, with perilesional edema and subtle mass effect. Considering it a low-grade glioma in the presence of raised ICP, the neurosurgeon performed a craniotomy and duraplasty. However, biopsy and immunohistochemical staining showed the presence of parenchymal tissue infiltrated by histiocytes/macrophages with foamy appearance and CD68 + and GFAP − in histiocytic cells, confirming the diagnosis of a demyelinating lesion. MRI of the spine also showed hyperintensities with thickening and nodular enhancement of the cauda equina. Afterward, the patient was treated with methylprednisolone and plasmapheresis with no effective prognosis. Repeat contrast-enhanced MRI of the brain, 2&#xa0;months later, showed a residual lesion and two new bilateral lesions in the frontal lobe, right: 3.5&#xa0;cm × 4.6&#xa0;cm and left: 3.3&#xa0;cm × 2.4&#xa0;cm, hypointense on T1 and hyperintense on T2, with thick, heterogeneous contrast-enhanced borders. First-line, second-line, and disease-modifying therapies (DMTs) were ineffective in controlling the disease. TDL can mimic brain tumors and other neurological conditions, making it a key differential diagnosis for CNS lesions like glioma, lymphoma, and stroke. In resource-limited settings, craniotomy may be necessary when clinical and radiological findings are inconclusive, especially with raised ICP. Close follow-up with contrast-enhanced MRI is crucial due to its aggressive nature. Further research into non-invasive diagnostics and targeted therapies is needed to improve outcomes, particularly for aggressive TDL.</p>

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Tumefactive Demyelinating Lesion Mimicking Glioma: A Diagnostic And Therapeutic Challenge—A Case Report

  • 期刊论文

  • 发表日期：

    2025年6月10日

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  • Muddasir Mehmood Jan,
  • Ihtisham Ullah,
  • Imad Majeed,
  • Zarmeena Ajmal,
  • Muhammad Tahir

摘要

Tumefactive demyelinating lesion (TDL) is a rare atypical variant of multiple sclerosis, an autoimmune disorder characterized by inflammation and demyelination of the central nervous system. TDL refers to a demyelinating lesion in the central nervous system larger than 2 cm. Radiological diagnosis is difficult due to its variable presentation. Clinically, it presents with mass effects and symptoms related to the size and location of the lesion, including cognitive, motor, sensory, and cerebellar deficits. We reported a case of a 29-year-old female who presented with headaches, seizures, and blurry vision. On examination, the patient was vitally stable and oriented. She had reduced visual acuity with mild bilateral optic disc swelling. Contrast-enhanced MRI of the brain showed an irregular peripheral ring-enhanced, central hypointense lesion of 5.7 × 4.6 × 5.2 cm on T2/FLAIR in the left occipito-parietal lobe, with perilesional edema and subtle mass effect. Considering it a low-grade glioma in the presence of raised ICP, the neurosurgeon performed a craniotomy and duraplasty. However, biopsy and immunohistochemical staining showed the presence of parenchymal tissue infiltrated by histiocytes/macrophages with foamy appearance and CD68 + and GFAP − in histiocytic cells, confirming the diagnosis of a demyelinating lesion. MRI of the spine also showed hyperintensities with thickening and nodular enhancement of the cauda equina. Afterward, the patient was treated with methylprednisolone and plasmapheresis with no effective prognosis. Repeat contrast-enhanced MRI of the brain, 2 months later, showed a residual lesion and two new bilateral lesions in the frontal lobe, right: 3.5 cm × 4.6 cm and left: 3.3 cm × 2.4 cm, hypointense on T1 and hyperintense on T2, with thick, heterogeneous contrast-enhanced borders. First-line, second-line, and disease-modifying therapies (DMTs) were ineffective in controlling the disease. TDL can mimic brain tumors and other neurological conditions, making it a key differential diagnosis for CNS lesions like glioma, lymphoma, and stroke. In resource-limited settings, craniotomy may be necessary when clinical and radiological findings are inconclusive, especially with raised ICP. Close follow-up with contrast-enhanced MRI is crucial due to its aggressive nature. Further research into non-invasive diagnostics and targeted therapies is needed to improve outcomes, particularly for aggressive TDL.