Wessex Neurological Centre, Southampton General Hospital, UK.
Neurology. 2010 Apr 20;74(16):1267-70. doi: 10.1212/WNL.0b013e3181d9ed69.
The cryopyrin-associated periodic syndrome (CAPS) is a rare but treatable hereditary autoinflammatory condition. Without treatment, one third of patients develop amyloidosis with consequent renal failure and death. CAPS encompasses 3 conditions: familial cold autoinflammatory syndrome, Muckle-Wells syndrome, and chronic infantile, neurologic, cutaneous, and articular syndrome. Neurologic complications are common in children with the chronic infantile, neurologic, cutaneous, and articular phenotype, but there are no previous published reports of neurologic features in adults with milder phenotypes.
In this case series, we report in detail an adult case of CAPS and summarize the neurologic features seen in 12 other adults with genetically proven CAPS. These patients participated in a recent randomized study of canakinumab in CAPS and we used pretreatment data collected in this study.
Twelve of the 13 patients (92%) had headache, of whom 10 (77%) had features of migraine. Seven patients (54%) had sensorineural deafness. Nine patients (69%) reported myalgia. Six patients (46%) had papilledema and a further 2 (15%) had optic disc pallor. MRI brain scan was normal in all patients.
CAPS is a rare but treatable condition that may be encountered by neurologists in adult clinical practice since it can present with headache, myalgia, papilledema, sensorineural deafness, and aseptic meningitis. Unrecognized and untreated, it can lead to significant morbidity and mortality from renal failure. Treatment with anti-interleukin-1 therapy leads to complete resolution of symptoms and should also prevent progression to amyloidosis and subsequent renal failure.
冷吡啉相关周期性综合征（CAPS）是一种罕见但可治疗的遗传性自身炎症性疾病。如果不治疗，三分之一的患者会发生淀粉样变性，继而导致肾衰竭和死亡。CAPS 包括 3 种情况：家族性冷自身炎症综合征、穆勒-韦尔斯综合征和慢性婴儿期、神经性、皮肤性和关节性综合征。神经并发症在患有慢性婴儿期、神经性、皮肤性和关节性表型的儿童中很常见，但以前没有关于轻度表型成人的神经特征的报道。
在本病例系列研究中，我们详细报告了 1 例成人 CAPS 病例，并总结了 12 例其他基因证实的 CAPS 成人患者的神经特征。这些患者参加了最近一项关于 CANakinumab 在 CAPS 中的随机研究，我们使用了该研究中收集的治疗前数据。
13 例患者中的 12 例（92%）有头痛，其中 10 例（77%）有偏头痛特征。7 例（54%）有感觉神经性耳聋。9 例（69%）报告有肌痛。6 例（46%）有视乳头水肿，另有 2 例（15%）有视神经盘苍白。所有患者的脑部 MRI 扫描均正常。
CAPS 是一种罕见但可治疗的疾病，在成人临床实践中，神经科医生可能会遇到这种疾病，因为它可能表现为头痛、肌痛、视乳头水肿、感觉神经性耳聋和无菌性脑膜炎。如果未被识别和未得到治疗，它可能会导致肾衰竭引起的严重发病率和死亡率。抗白细胞介素-1 治疗可完全缓解症状，也应预防淀粉样变性和随后的肾衰竭进展。
