Sammarra Ilaria, Barbagallo Gaetano, Labate Angelo, Mondello Baldassare, Albonico Giuseppe, Maisano Maurizio, Cascini Giuseppe Lucio, Quattrone Aldo, Gambardella Antonio
Institute of Neurology, Magna Græcia University, 88100 Catanzaro, Italy.
Unit of Thoracic Surgery, Grande Ospedale Metropolitano di Reggio Calabria, 89124 Reggio Calabria, Italy.
Brain Sci. 2019 Sep 21;9(10):243. doi: 10.3390/brainsci9100243.
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.
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 H-magnetic resonance spectroscopy (H-MRS), contrast enhanced computed tomography (CT) scan and fluorine-18-fluorodeoxyglucose-positron emission tomography (F-FDG-PET)/3T-MRI were performed. The parenchymal multifocal lesions exhibited slight -acetyl-aspartate/creatine reduction without abnormal peaks on H-MRS, enhancement after the administration of contrast agent on CT and hypermetabolism on F-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 F-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.
This case demonstrated that a multimodal neuroimaging approach can provide different but complementary evidences to suspect sarcoidosis, especially in apparently CNS isolated forms.
神经结节病是一种临床表现和影像学表现高度多样的疾病,可导致孤立性中枢神经系统(CNS)型难以识别,因为它可能类似于炎症性、感染性或肿瘤性疾病。传统磁共振成像(MRI)是评估神经结节病中枢神经系统受累情况的金标准,尽管其在诊断中报道的敏感性高但特异性低。
在此,我们描述一名52岁男性,他因有10年局灶性癫痫发作、进行性认知衰退和运动障碍病史前来我院就诊。神经系统检查发现共济失调步态、双侧动作性震颤和姿势性震颤、反射亢进、左侧巴宾斯基征阳性以及身体右侧感觉减退。脑部3T磁共振成像(MRI)显示白质脑病,在T2/液体衰减反转恢复(FLAIR)加权图像上有多个结节状高信号病变,累及基底神经节、脑室周围和深部白质。传统MRI上这种表现的解读不明确,对炎症性、感染性或肿瘤性疾病的鉴别诊断提出了挑战。因此,为了更好地了解这些结节的性质,进行了单体素氢磁共振波谱(H-MRS)、增强计算机断层扫描(CT)和氟-18-氟脱氧葡萄糖正电子发射断层扫描(F-FDG-PET)/3T-MRI检查。脑实质多灶性病变在H-MRS上显示轻度N-乙酰天门冬氨酸/肌酸降低且无异常峰,CT上注射造影剂后有强化,F-FDG-PET/3T-MRI上有高代谢。所有这些发现排除了原发性肿瘤、转移瘤、神经结核、神经囊尾蚴病和脑脓肿,强烈提示神经结节病的诊断。因此,进行了全身F-FDG-PET/CT以识别亚临床神经外结节病定位,发现左肺上叶有一个高代谢结节。随后,活检证实存在系统性结节病,支持可能的神经结节病诊断。
该病例表明,多模态神经影像学方法可以提供不同但互补的证据来怀疑结节病,特别是在明显孤立的中枢神经系统型中。