RESUMO
PURPOSE: Tumefactive demyelination (TD) lesion and its subtype Balo's concentric sclerosis (BCS), are rare manifestations of central nervous system demyelinating disease. Because of its rarity, physicians might hesitate in reaching a diagnosis or initiating steroid pulse therapy. This study aims at pinpointing the key neuroimaging features to distinguish TD lesions from surgical conditions, and illustrating the clinical outcomes of patients with TD lesions. CASE REPORT: Two of the three patients had solitary TD lesions, one 47-year-old man presenting with newly onset seizure and another 54-year-old women suffering from progressive hemiparesis. The male patient underwent craniotomy for mass excision without further steroid therapy, while the female patient received methylprednisolone pulse therapy only. Both patients remained free of clinical and radiological relapses over the past 6-7 years, leading to the diagnosis of clinically isolated syndrome. The third case is a 30-year-old woman with subacute onset of dysarthria and hemiparesis. She had two BCS lesions along with other demyelinating lesions in the juxtacortical and periventricular regions, cerebellar peduncles, and spinal cord, fulfilling dissemination in time and space. Her neurological deficits resolved after pulse therapy, and she received long-term disease modifying therapy for multiple sclerosis. CONCLUSION: This study underscores the diverse neuroimaging and clinical presentations of patients with TD lesions, and emphasizes the importance of clinical vigilance regarding this rare condition.
Assuntos
Doenças Desmielinizantes , Esclerose Cerebral Difusa de Schilder , Esclerose Múltipla , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doenças Desmielinizantes/patologia , Esclerose Cerebral Difusa de Schilder/diagnóstico por imagem , Esclerose Cerebral Difusa de Schilder/patologia , Imageamento por Ressonância Magnética , Esclerose Múltipla/tratamento farmacológico , Paresia/etiologia , Radiografia , Esteroides/uso terapêuticoAssuntos
Doenças Desmielinizantes , Cadeias kappa de Imunoglobulina , Humanos , Doenças Desmielinizantes/líquido cefalorraquidiano , Doenças Desmielinizantes/patologia , Cadeias kappa de Imunoglobulina/líquido cefalorraquidiano , Cadeias kappa de Imunoglobulina/sangue , Feminino , Masculino , Pessoa de Meia-Idade , Adulto , IdosoRESUMO
BACKGROUND: Isolated tumefactive demyelinating lesions (≥2 cm) may be difficult to distinguish from contrast-enhancing brain tumors, central nervous system infections, and (rarely) tissue dysgenesis, which may all occur with increased signal on T2-weighted images. Establishing an accurate diagnosis is essential for management, and we delineate our single-center experience. METHODS: We performed a retrospective review of medical records, imaging, and biopsy specimens for patients under 18 years presenting with isolated tumefactive demyelination over a 10-year period. RESULTS: Ten children (eight female) met inclusion criteria, with a median age of 14.1 years. Lesions were most likely to involve the thalamus (six of 10), brainstem (five of 10), basal ganglia (four of 10), or corpus callosum (four of 10). Eighty percent had perilesional edema at presentation, and 60% had midline shift. Biopsies demonstrated demyelination with perivascular lymphocytic infiltration and axonal damage ranging from mild to severe. All patients were initially treated with high-dose corticosteroids, and eight of 10 required additional medical therapies such as intravenous immunoglobulin, plasmapheresis, cyclophosphamide, or rituximab. Increased intracranial pressure was managed aggressively with two of 10 patients requiring decompressive craniectomies. Clinical outcomes varied. CONCLUSIONS: Solitary tumefactive demyelinating lesions are rare, and aggressive management of inflammation and increased intracranial pressure is essential. Biopsy is helpful to evaluate for other diagnoses on the differential and maximize therapies. Treatment beyond initial therapy with corticosteroids is often required. Isolated tumefactive demyelinating lesions are uncommon; multicenter natural history studies are needed to better delineate differential diagnoses and optimal therapies.
Assuntos
Doenças Desmielinizantes , Imageamento por Ressonância Magnética , Humanos , Feminino , Masculino , Adolescente , Estudos Retrospectivos , Doenças Desmielinizantes/diagnóstico por imagem , Doenças Desmielinizantes/patologia , Criança , Pré-Escolar , Encéfalo/diagnóstico por imagem , Encéfalo/patologiaRESUMO
Tumefactive demyelinating lesions remain a rare entity and a source of diagnostic difficulty. Here, we report the case of a teenage girl who presented with a one-month history of progressive quadriparesis and symptoms of intracranial hypertension. Brain MRI showed multiple large subcortical white matter lesions with both open- and closed-rim enhancement on gadolinium injection. The patient subsequently underwent a brain biopsy which showed an inflammatory infiltrate and no signs of malignancy. She was treated with pulse intravenous methylprednisolone at a dose of 500mg per day for five days and had rapid improvement. Her symptoms fully resolved after three months. This case highlights the need for better recognition and diagnosis of tumefactive demyelination, potentially avoiding unnecessary invasive diagnostic procedures such as brain biopsies.
RESUMO
This case report highlights the diagnostic challenges encountered in a 30-year-old female presenting with fever followed by Wernicke's aphasia without right-sided weakness, ultimately diagnosed as tumefactive demyelination (TD). TD is a rare neurological condition often misidentified as brain tumors or inflammatory disorders. The case emphasizes the importance of precise differentiation through advanced magnetic resonance imaging, showing restricted diffusion at lesion edges and the absence of gadolinium enhancement. Accurate diagnosis is crucial for tailored treatment and prognostic assessment. This case contributes to our understanding of TD and underscores the need for continued research and collaboration in the field of rare neurological disorders.