神经脊髓炎视网膜病变。病例报告

A. K. Mammadbayli, Sh.N. Mehtiyeva, S.C. Ismayilova
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In November 2022, she has a sudden vision loss again. \"Vitiligo-type\" white spots were visible around the eyes and on the hands. In neurological examination: eyeball movements are complete in all directions, photoreaction is preserved (D=S), nose-lip folds are symmetrical (D=S), tongue is on the midline, swallowing is not disturbed. Muscle tone and muscle strength in upper and lower limbs are normal, reflexes have increased (D=S). No changes in gait and sensory disturbances have been observed. The functions of the pelvic organs have not been disturbed. Intellect appears appropriate for age, speech has not changed. Ophthalmologist's examination, both eyes have high degree of myopia, myopic astigmatism. Contrasted Cranial MRI- Angiography revealed increased signal in the intracranial segments of the bilateral optic nerve, chiasm, and bilateral optic tract level. The MRI image was initially evaluated in favor of bilateral optic neuritis. 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引用次数: 0

摘要

简介神经脊髓炎视网膜谱系障碍(NMOSD)是一种自身免疫性疾病,会导致严重脱髓鞘,尤其是视神经和脊髓,典型临床表现为急性视神经炎和横贯性脊髓炎。全世界的发病率估计为每 10 万人中有 1-2 人。病例报告。患者是一名 37 岁的女性。自 2022 年 5 月起,她突然感到视力下降。她的这种情况与当年 1 月遇到的另一个病因不明的病例有关--腹部和背部出现大量水泡型皮疹,持续了 3 天,但这些皮疹的痕迹以色素沉着的形式保留了一段时间。2022 年 11 月,她的视力再次突然下降。眼周和手部出现 "白癜风型 "白斑。神经系统检查:眼球在各个方向的运动都很完整,光反应得以保留(D=S),鼻唇沟对称(D=S),舌头位于中线上,吞咽不受干扰。上下肢肌张力和肌力正常,反射增强(D=S)。步态和感觉障碍没有变化。盆腔器官的功能没有受到干扰。智力与年龄相符,语言能力也没有改变。经眼科医生检查,双眼高度近视,近视散光。对比颅脑磁共振成像(Cranial MRI)- 血管造影显示,双侧视神经颅内段、视交叉和双侧视束水平信号增强。核磁共振成像初步评估为双侧视神经炎。甲状腺 USG 声像图显示桥本氏甲状腺炎和自身免疫性甲状腺炎。胸部核磁共振成像显示,C4水平有一个3毫米的脱髓鞘病变,C4-5椎间盘有一个2毫米的宽基突起,压迫脊髓的程度很小,C5-6椎间盘有一个环状肿物,压迫蛛网膜下腔前区,Th1-6毫米、Th5-12毫米、Th9-10-38毫米长的脱髓鞘病变。讨论根据现有文献,血清中 AQP-4 蛋白抗体的检测在该病的发病机制中起着决定性作用,可用于鉴别诊断。在临床实践中,尽管该病具有表型和血清学特征,但诊断往往比较困难。因为有各种自身免疫性、感染性和肿瘤性病因的表型、疾病表现可与神经脊髓炎视网膜炎相似。然而,根据临床症状和仪器检查的结果,我们的患者被诊断为神经脊髓炎视网膜病变。她接受了激素治疗和血浆置换术,神经症状出现了明显的积极变化。结论尽管神经脊髓炎视网膜病变与其他脱髓鞘疾病,尤其是多发性硬化症的鉴别诊断存在困难,但通过详细了解临床、放射学和预后方面的差异,还是可以正确评估诊断标准的。
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NEUROMYELITIS OPTICA. CASE REPORT
Introduction. Neuromyelitis optica spectrum disorder (NMOSD) is an autoimmune disease that causes severe demyelination, especially in the optic nerve and spinal cord with typical clinical manifestations of acute optic neuritis and transverse myelitis. The frequency of occurrence worldwide is estimated at 1-2 people out of every 100,000 people. Case report. Our patient was a 37-year-old woman. She felt a sudden vision loss since May 2022. She related this condition to another case of unknown etiology that she encountered in January of that year - numerous vesicular-type rashes appeared on the abdomen and back and lasted for 3 days, but the traces of those rashes remained for some time in the form of hypopigmentation. In November 2022, she has a sudden vision loss again. "Vitiligo-type" white spots were visible around the eyes and on the hands. In neurological examination: eyeball movements are complete in all directions, photoreaction is preserved (D=S), nose-lip folds are symmetrical (D=S), tongue is on the midline, swallowing is not disturbed. Muscle tone and muscle strength in upper and lower limbs are normal, reflexes have increased (D=S). No changes in gait and sensory disturbances have been observed. The functions of the pelvic organs have not been disturbed. Intellect appears appropriate for age, speech has not changed. Ophthalmologist's examination, both eyes have high degree of myopia, myopic astigmatism. Contrasted Cranial MRI- Angiography revealed increased signal in the intracranial segments of the bilateral optic nerve, chiasm, and bilateral optic tract level. The MRI image was initially evaluated in favor of bilateral optic neuritis. USG of the thyroid gland showed sonographic changes in favor of Hashimoto's thyroiditis, and autoimmune thyroiditis was detected. In chest MRI, a demyelinating lesion of 3 mm at C4 level, a 2 mm broad-based protrusion at C4-5 disc that minimally compresses the spinal cord, an annular swelling at C5-6 disc that compresses the anterior subarachnoid area, Th1 – 6 mm, Th5 – 12 mm, Th9 – 10-38 mm long demyelinating lesions were seen. Discussion. According to the available literature, the detection of AQP-4 protein antibodies in serum, which has a role in the pathogenesis of the disease, can play a decisive role in differential diagnosis. In clinical practice, despite the phenotypic and serological characteristics of this disease, the diagnosis is often difficult. Because there are various autoimmune, infectious and neoplastic etiologies phenotypic, manifestations of diseases can mimic neuromyelitis optica. However, based on the clinical symptoms and the results of instrumental examinations, our patient was diagnosed with neuromyelitis optica. She was treated with hormonal therapy and plasmapheresis, and a significant positive change in neurological symptoms was observed. Conclusion. Despite the difficulties in the differential diagnosis of neuromyelitis optica with other demyelinating diseases, especially with multiple sclerosis, it is possible to correctly assess the diagnostic criteria by understanding the detailed clinical, radiological and prognostic differences.
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