Canavero Isabella, Rifino Nicola, Antozzi Carlo, Caldiera Valentina, Colombo Elena, Carrozzini Tatiana, Ganci Giuseppe, Ferroli Paolo, Acerbi Francesco, Storti Benedetta, Boncoraglio Giorgio Battista, Potenza Antonella, Pollaci Giuliana, Gorla Gemma, Ciceri Elisa, De Marco Patrizia, Gatti Laura, Bersano Anna
Cerebrovascular Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
Int J Mol Sci. 2025 May 23;26(11):5030. doi: 10.3390/ijms26115030.
Moyamoya angiopathy (MMA) is a cerebrovascular disease determining chronic progressive steno-occlusion of the supraclinoid internal carotid arteries and their main branches. The pathogenesis of MMA remains largely unknown. Multiple sclerosis (MS) is a chronic, inflammatory, demyelinating disease of the central nervous system characterized by the progressive accumulation of focal demyelinating lesions, whose pathophysiology has been theorized but still incompletely understood. Beyond misdiagnoses due to mimicking features among the two disorders, MS coexisting with MMA have been previously, rarely, reported. Herein, we present two other cases of patients with MMA with a concomitant, previously missed, diagnosis of MS and discuss their overlapping features as a hint for a potentially shared pathophysiology. The finding of typical angiographic features enables MMA diagnosis, yet it does not allow us to rule out other potentially concomitant disorders affecting the CNS. The association may be easily missed if the clinical/neuroradiological picture is not carefully assessed. Cerebral spinal fluid analysis and spine neuroimaging should be suggested in all MMA patients with atypical MRI lesions.
烟雾病血管病（MMA）是一种脑血管疾病，其特征为海绵窦段颈内动脉及其主要分支的慢性进行性狭窄闭塞。MMA的发病机制在很大程度上仍不清楚。多发性硬化症（MS）是一种中枢神经系统的慢性、炎症性脱髓鞘疾病，其特征是局灶性脱髓鞘病变逐渐积累，其病理生理学虽已形成理论但仍未完全理解。除了因两种疾病的相似特征导致误诊外，此前很少有MS与MMA共存的报道。在此，我们介绍另外两例患有MMA且同时伴有此前漏诊的MS的患者病例，并讨论它们的重叠特征，以此作为潜在共同病理生理学的线索。典型血管造影特征的发现有助于MMA的诊断，但这并不能排除其他可能影响中枢神经系统的伴随疾病。如果临床/神经影像学表现未得到仔细评估，这种关联很容易被漏诊。对于所有有非典型MRI病变的MMA患者，均应建议进行脑脊液分析和脊柱神经影像学检查。
