Chou Hsiao-Feng, Wu Yu-Hung, Ho Che-Sheng, Kao Yu-Hsuan
Song Zhan Clinics, No.88, Songlong Rd, Taipei City, 110, Taiwan.
Department of Dermatology, Mackay Memorial Hospital, No. 92, Sec. 2, Zhong-shan N. Rd, Taipei City, 10449, Taiwan.
Pediatr Rheumatol Online J. 2018 Apr 24;16(1):31. doi: 10.1186/s12969-018-0249-6.
This study aimed to evaluate the demographic, clinical features, laboratory data, pathology and other survey in pediatric patients with cryofibrinogenemia.
A 12-year retrospective chart review identified eight pediatric patients at Mackay Memorial Hospital, Taipei, Taiwan.
The female-to-male ratio was 3:1. The mean age at symptom onset and of diagnosis was 10.3 ± 4.6 years and 12.3 ± 4 years, respectively. One child (12.5%) had primary cryofibrinogenemia. The common symptoms were purpura, arthralgia, and muscle weakness (100%). On laboratory examination, cryofibrinogen was positive in all patients. All patients had increased anti-thrombin III while 87.5% and 62.5% had abnormal protein S and protein C, respectively. All eight also complained of neurologic symptoms. One had vertebral artery narrowing, two showed increased T2-weighted signal intensity on the thalamus or white matter, and one had acute hemorrhagic encephalomyelitis on brain magnetic resonance imaging.
This study reports on the presentations of cryofibrinogenemia, which is rare in children. Most cases are associated with autoimmune disease and have severe and complex presentations. Central nervous system involvement is common.
本研究旨在评估儿童冷纤维蛋白原血症患者的人口统计学、临床特征、实验室数据、病理学及其他调查情况。
通过对台湾台北市马偕纪念医院12年的病历回顾，确定了8例儿科患者。
男女比例为3:1。症状出现的平均年龄和诊断时的平均年龄分别为10.3±4.6岁和12.3±4岁。1名儿童（12.5%）患有原发性冷纤维蛋白原血症。常见症状为紫癜、关节痛和肌肉无力（100%）。实验室检查显示，所有患者的冷纤维蛋白原均呈阳性。所有患者的抗凝血酶III均升高，而分别有87.5%和62.5%的患者蛋白S和蛋白C异常。所有8例患者均有神经症状主诉。1例有椎动脉狭窄，2例在丘脑或白质的T2加权信号强度增加，1例在脑磁共振成像上有急性出血性脑脊髓炎。
本研究报告了冷纤维蛋白原血症在儿童中的表现，该病在儿童中罕见。大多数病例与自身免疫性疾病相关，且表现严重复杂。中枢神经系统受累常见。
