Background: Neurosarcoidosis is a highly variable condition with many clinical and radiological manifestations, that can lead to difficult identification of isolated central nervous system (CNS) forms, because it could mimic inflammatory, infective or neoplastic disorders. Conventional magnetic resonance imaging (MRI) is gold standard to evaluate CNS involvement in neurosarcoidosis, despite the reported high sensitivity but low specificity in the diagnosis.
Case presentation: Here, we describe a 52-year-old man that presented to our hospital with a 10-year history of focal seizures, progressive cognitive decline and motor impairment. Neurological examination revealed ataxic gait, bilateral telekinetic and postural tremor, brisk reflexes, left extensor plantar response and hypoesthesia to the right side of body. Brain 3T-magnetic resonance imaging (MRI) showed a leukoencephalopathy with multifocal nodular lesions hyperintense on T2/ fluid attenuated inversion recovery (FLAIR) weighted images involving basal ganglia, periventricular and deep white matter. The interpretation of this pattern on conventional MRI was unclear, opening a challenge on the differential diagnosis between inflammatory, infective or neoplastic disorders. Thus, to better understand the nature of these nodules, single-voxel 1H-magnetic resonance spectroscopy (1H-MRS), contrast enhanced computed tomography (CT) scan and fluorine-18-fluorodeoxyglucose-positron emission tomography (18F-FDG-PET)/3T-MRI were performed. The parenchymal multifocal lesions exhibited slight N-acetyl-aspartate/creatine reduction without abnormal peaks on 1H-MRS, enhancement after the administration of contrast agent on CT and hypermetabolism on 18F-FDG-PET/3T-MRI. All these findings excluded primary neoplasms, metastasis, neurotuberculosis, neurocysticercosis and brain abscess, strongly suggesting a diagnosis of neurosarcoidosis. Therefore, a whole-body 18F-FDG-PET/CT was performed in order to identify subclinical extraneural sarcoidosis localizations, and a hypermetabolic nodule of the left lung upper lobe was found. Subsequently, a biopsy documented the presence of systemic sarcoidosis, supporting a diagnosis of probable neurosarcoidosis.
Conclusions: This case demonstrated that a multimodal neuroimaging approach can provide different but complementary evidences to suspect sarcoidosis, especially in apparently CNS isolated forms.
Keywords: computed tomography; magnetic resonance imaging; magnetic resonance spectroscopy; multimodal imaging; neurosarcoidosis; positron emission tomography.