抗IgLON5病是一种罕见的疾病,其特征是各种症状的异质性,可能包括睡眠障碍,球功能障碍,步态问题,运动障碍,认知障碍,动眼异常,和神经系统过度兴奋。它的病理生理学仍然未知,结合自身免疫和神经退行性发现。
我们描述临床,脑脊液(CSF),和碘氟烷单光子发射计算机断层扫描(SPECT)发现的抗IgLON5疾病阳性病例,模拟可能的进行性核上性麻痹(PSP)。我们对以前报道的抗IgLON5疾病和碘氟烷SPECT的出版物进行了文献综述。
我们报道了一例66岁男性,符合可能PSP的临床标准,其中碘氟哌烷SPECT显示左突触前多巴胺能通路改变。然而,PSP的非典型神经系统症状的存在导致了进一步的补充测试,并在CSF中检测到IgLON5抗体。根据我们的文献综述,先前仅在其他三名患有抗IgLON5疾病的患者中描述了碘氟烷SPECT的发现,其中两个纹状体的摄取减少。
碘氟平SPECT异常,虽然几乎没有描述,在抗IgLON5疾病中并不少见。它们可能与黑质纹状体多巴胺能变性有关,但进一步的案例描述是必要的。
Anti-IgLON5 disease is a rare disorder characterized by a heterogeneous myriad of symptoms that may include sleep disorders, bulbar dysfunction, gait problems, movement disorders, cognitive impairment, oculomotor abnormalities, and nervous system hyperexcitability. Its physiopathology remains unknown, with a combination of both autoimmune and neurodegenerative findings.
We describe clinical, cerebrospinal fluid (CSF), and ioflupane single-photon emission computed tomography (SPECT) findings of a positive case of anti-IgLON5 disease mimicking probable progressive supranuclear palsy (PSP). We performed a literature
review of previous publications reporting on anti-IgLON5 disease and ioflupane SPECT.
We report the case of a 66-year-old male who met clinical criteria for probable PSP, in whom ioflupane SPECT showed an alteration of the left presynaptic dopaminergic pathway. However, the presence of atypical neurological symptoms for PSP led to further complementary tests, and IgLON5 antibodies were detected in CSF. According to our literature
review, ioflupane SPECT findings have been previously described in only three other patients with anti-IgLON5 disease, with a reduced uptake in the striatum in two of them.
Ioflupane SPECT abnormalities, though scarcely described, are not uncommon in anti-IgLON5 disease. They could be related to nigrostriatal dopaminergic degeneration in the context of the tauopathy component of the disease, but further case descriptions are necessary.