Behringer Jessica, Ryan Maura, Miller Michael, Jaju Alok
Franciscan Health, USA.
Ann and Robert H. Lurie Children's Hospital of Chicago, USA.
Neuroradiol J. 2019 Dec;32(6):420-425. doi: 10.1177/1971400919863712. Epub 2019 Jul 24.
Cryopyrin-associated periodic syndrome is a hereditary inflammatory disorder encompassing a wide spectrum of clinical phenotypes. This disorder has been associated with mutation of the gene coding for cryopyrin, which leads to overproduction of interleukin-1. The condition causes relapsing bouts of inflammation involving multiple organ systems, including the central nervous system, and, if untreated, can lead to long-term debilitating effects. A literature review revealed only a few brief descriptions of magnetic resonance imaging findings in cryopyrin-associated periodic syndrome patients. We describe serial magnetic resonance imaging findings in an 11-year-old female with clinically diagnosed cryopyrin-associated periodic syndrome who presented with intermittent headaches, progressive sensorineural hearing loss, fevers, and abdominal pain. The magnetic resonance imaging showed progressively worsening low T2 signal in the cochlea, cochlear enhancement, and leptomeningeal enhancement. We also describe some previously unreported findings in this syndrome, including cranial nerve and cauda equina enhancement.
冷吡啉相关周期性综合征是一种遗传性炎症性疾病，涵盖广泛的临床表型。这种疾病与编码冷吡啉的基因突变有关，该突变导致白细胞介素-1过度产生。该病会引发涉及多个器官系统（包括中枢神经系统）的反复发作的炎症，如果不进行治疗，可能会导致长期的衰弱效应。一项文献综述显示，关于冷吡啉相关周期性综合征患者磁共振成像结果的描述仅有几篇简短报道。我们描述了一名11岁临床诊断为冷吡啉相关周期性综合征的女性患者的系列磁共振成像结果，该患者表现为间歇性头痛、进行性感音神经性听力损失、发热和腹痛。磁共振成像显示耳蜗T2信号逐渐降低、耳蜗强化以及软脑膜强化。我们还描述了该综合征一些此前未报道的结果，包括颅神经和马尾神经强化。
