Dimova Petia S, Mikova Olya A
Clinic of Child Neurology, St. Naum University Hospital of Neurology and Psychiatry, Sofia, Bulgaria.
J Child Neurol. 2005 Nov;20(11):915-9. doi: 10.1177/08830738050200111101.
Aicardi-Goutières syndrome is a rare progressive encephalopathy characterized by a typical clinical picture, bilateral basal ganglia calcifications, leukodystrophy and brain atrophy, lymphocytosis, and elevated interferon-alpha in the cerebrospinal fluid. Among the cases described to date, variability in the clinical expression or in the cerebrospinal fluid abnormalities has been reported. We present a case with a delayed diagnosis at the age of 8 years, when brain computed tomography was done because there was no first image from the age of 8 months, when the disease started. Symmetric basal ganglia calcifications were visualized and led to purposeful investigation of the cerebrospinal fluid. It revealed an interferon-alpha titer of 103 IU/mL, which, together with the progressive brain damage and disease course, was crucial for the diagnosis. This rare finding of long-term highly elevated interferon-alpha in the cerebrospinal fluid is discussed with respect to the clinical course.
艾卡迪-古铁雷斯综合征是一种罕见的进行性脑病，其特征为典型的临床表现、双侧基底节钙化、脑白质营养不良和脑萎缩、淋巴细胞增多以及脑脊液中α-干扰素水平升高。在迄今为止报道的病例中，临床表型或脑脊液异常存在变异性。我们报告一例8岁时延迟诊断的病例，该患儿因自8个月龄疾病起病时没有首张影像资料，8岁时进行了脑部计算机断层扫描。可见对称性基底节钙化，从而有针对性地对脑脊液进行了检查。结果显示α-干扰素滴度为103 IU/mL，这一结果连同进行性脑损伤和病程，对诊断至关重要。本文结合临床病程对脑脊液中α-干扰素长期高度升高这一罕见发现进行了讨论。
