The evaluation of patients with disseminated processes with CNS and osseous involvement is often challenging. A 22-year-old healthy man developed left-sided weakness, paresthesias, and neck pain over several weeks. On clinical examination, he was noted to have decreased right eye visual acuity, left-sided pyramidal weakness and numbness, and bilateral hyperreflexia. MRI revealed multifocal widespread abnormalities: nonenhancing lesions throughout the infratentorial brain, pituitary gland, right frontal lobe, and optic nerves, in addition to an enhancing intramedullary cervical spinal cord lesion, extensive nodular leptomeningeal enhancement of the spine, and numerous enhancing bony lesions throughout the vertebrae and iliac bones. CSF analysis was notable for normal opening pressure, protein 465 mg/dL, glucose 21 mg/dL, and normal cell count. Extensive serum and CSF analysis for infectious, inflammatory, and neoplastic etiologies was unrevealing, and the diagnosis was ultimately revealed after additional staining of tissue biopsy specimen from sacral and cerebellar biopsies. This case highlights the differential diagnoses for widely disseminated disease affecting the CNS and bones and informs pediatric and adult clinicians of important recent developments regarding this diagnostic entity.

对患有中枢神经系统播散性过程和骨受累的患者进行评估通常具有挑战性。一名 22 岁健康男性在几周内出现左侧无力、感觉异常和颈部疼痛。临床检查发现，他右眼视力下降，左侧锥体无力和麻木，双侧反射亢进。MRI 显示多灶性广泛异常：整个幕下脑、垂体、右额叶和视神经的非增强病变，此外还有增强的髓内颈脊髓病变、脊柱广泛的结节性软脑膜增强，以及遍布全身的大量增强的骨性病变。椎骨和髂骨。脑脊液分析的显着特征是开放压力正常、蛋白质 465 mg/dL、葡萄糖 21 mg/dL 和正常细胞计数。对感染性、炎症性和肿瘤性病因进行广泛的血清和脑脊液分析并未揭示出病因，最终在对来自骶骨和小脑活检的组织活检标本进行额外染色后才得出诊断结果。该病例强调了影响中枢神经系统和骨骼的广泛传播疾病的鉴别诊断，并向儿科和成人临床医生通报了有关该诊断实体的最新重要进展。