Samanta Debopam, Ramakrishnaiah Raghu
Department of Pediatrics, Division of Child Neurology, University of Arkansas For Medical Sciences, Little Rock, Arkansas, USA.
Division of Neuroradiology and Pediatric Radiology, University of Arkansas For Medical Sciences, Little Rock, Arkansas, USA.
Ann Indian Acad Neurol. 2019 Jan-Mar;22(1):111-115. doi: 10.4103/aian.AIAN_12_18.
Aicardi-Goutières syndrome (AGS) is a rare, genetic inflammatory disease due to mutations in any of the seven genes discovered to date (, and ). Clinical onset is seen most commonly or in infancy; irritability, feeding difficulties, jitteriness, microcephaly, abnormal movements, seizures, bone marrow suppression, and liver dysfunction are seen either during the neonatal age group or within the first few months of life with abrupt onset of neurologic regression and slowing of head growth. Diffusely abnormal white matters with swelling of frontal or temporal lobes, cerebral atrophy, and intracranial calcification are typical neuroradiologic abnormalities. However, mutation, a recently discovered AGS gene, can cause late-onset acute or subacute onset of severe dystonia and features of bilateral striatal necrosis on neuroimaging, in the absence of other typical features of AGS. We report a detailed description of a 5-year-old boy who had a recurrent encephalopathic presentation in the setting of infection. Magnetic resonance imaging (MRI) of brain revealed prominent and fairly symmetrical signal abnormalities in the cerebellar peduncles, thalamus, midbrain, and pons. His throat swab was positive for influenza B, and he was initially diagnosed with influenza encephalopathy. He had a recurrence after 18 months of his initial presentation, and his brain MRI showed extensive areas of signal abnormality similar to, but more extensive than, his previous scan. Extensive spinal cord swelling was also seen. His chronic skin finding was recognized as dyschromatosis symmetrica hereditaria (DSH), and genetic testing revealed compound heterozygous mutations of gene - causative for AGS. This is the first presentation of recurrent acute encephalopathy in the setting of documented mutation with the longest interval documented between two acute presentations. This is also the first documentation of extensive spinal cord involvement, which will expand its phenotype. This case also highlights the importance of early identification of DSH, a subtle but characteristic skin lesion of mutations, for prompt diagnosis of this rare condition.
艾卡迪-古铁雷斯综合征（AGS）是一种罕见的遗传性炎症性疾病，由迄今发现的七个基因中的任何一个发生突变所致（基因名称未给出）。临床发病最常见于儿童期或婴儿期；易激惹、喂养困难、易惊、小头畸形、异常运动、癫痫发作、骨髓抑制和肝功能障碍在新生儿期或出生后的头几个月出现，伴有神经系统功能突然衰退和头围生长减缓。弥漫性异常白质、额叶或颞叶肿胀、脑萎缩和颅内钙化是典型的神经放射学异常。然而，最近发现的AGS基因——[基因名称未给出]突变，可导致迟发性急性或亚急性严重肌张力障碍发作，神经影像学显示双侧纹状体坏死特征，且无AGS的其他典型特征。我们报告了一名5岁男孩在感染情况下反复出现脑病表现的详细情况。脑部磁共振成像（MRI）显示小脑脚、丘脑、中脑和脑桥有明显且相当对称的信号异常。他的咽拭子检测乙型流感呈阳性，最初被诊断为流感脑病。首次发病18个月后复发，脑部MRI显示广泛的信号异常区域，与之前的扫描结果相似，但范围更广。还发现广泛的脊髓肿胀。他的慢性皮肤表现被确认为对称性遗传性色素异常症（DSH），基因检测显示[基因名称未给出]基因的复合杂合突变——这是AGS的致病原因。这是首次报告在记录有[基因名称未给出]突变的情况下反复出现急性脑病，且两次急性发作之间的间隔时间是有记录以来最长的。这也是首次记录到广泛的脊髓受累情况，这将扩展其表型。该病例还强调了早期识别DSH（一种[基因名称未给出]突变的细微但具有特征性的皮肤病变）对于及时诊断这种罕见疾病的重要性。
