Moscote-Salazar Luis Rafael, Calderon-Miranda Willem Guillermo, Deluquez Baute Ray Vicente, Agrawal Amit, Satyarthee Guru Dutta, Maraby-Salgado Johana, Padilla-Zambrano Huber Said, Lopez-Cepeda Daniela, Pacheco-Hernandez Alfonso, Joaquim Andrei F
Neurosurgeon, Universidad de Cartagena, Cartagena, Bolivar, Colombia.
Department of Radiology, Hospital General Dr. Manuel Gea Gonzalez, Mexico City, Mexico.
J Pediatr Neurosci. 2018 Jan-Mar;13(1):88-90. doi: 10.4103/JPN.JPN_67_17.
The case of a term newborn diagnosed with Aicardi-Goutières syndrome, a rare encephalopathy in our environment, with Mendelian inheritance pattern, characterized by a set of nonspecific neurological symptoms associated with typical findings of intracerebral calcifications. The case is presented with diagnostic imaging, in addition to elevated levels of interferon alpha and cerebrospinal fluid lymphocytosis.
一名足月儿被诊断为艾卡迪-古铁雷斯综合征，这在我们所处环境中是一种罕见的脑病，具有孟德尔遗传模式，其特征为一组非特异性神经症状，并伴有脑内钙化的典型表现。除了α干扰素水平升高和脑脊液淋巴细胞增多外，还通过诊断性影像学展示了该病例。
