Boddaert Nathalie, Brunelle Francis, Desguerre Isabelle
Department of Pediatric Radiology, Hôpital Necker - Enfants Malades and Medical Faculty, Université Paris Descartes, Paris, France.
Handb Clin Neurol. 2013;111:63-78. doi: 10.1016/B978-0-444-52891-9.00006-3.
Clinical features (progressive psychomotor retardation, seizures, movement disorders and motor signs in both central and peripheral systems, sensorineural defects, and psychiatric symptoms) and brain imaging are the keys to diagnosis. CT is indicated for the detection of calcifications and blood, and for angiography. MRI in all three axes requires T1, T2, FLAIR (from 1 year on), eventually T2* or contrast administration, and diffusion in any acute condition. MR spectroscopy allows the dectection of lactate and creatine deficiency, elevated choline in high membrane turnover, and low NAA in neuronal death. The normal sequence of myelination needs to be taken into account. Pre- and neonatal anomalies include cystic and basal ganglia lesions, gyral and myelin anomalies, callosal agenesis, and large subdural spaces. Anomalies disclosed after 3 months of age include basal ganglia appearing hyper- or hypointense on T2, hypointense on T2*, or calcified white matter anomalies mainly periventricular or subcortical, or with contrast enhancement, associated with macrocephaly and/or large or very small cysts, and hypomyelination; there may be "vascular" or pseudostroke disorders, cortical atrophy, hypoplasia, or abnormal signal of the brainstem and/or cerebellum. Spectroscopy should investigate basal ganglia, white matter, and the cerebellum. MRI may reveal typical alterations of the brain at the preclinical stage in siblings of affected children.
临床特征（进行性精神运动发育迟缓、癫痫发作、运动障碍以及中枢和外周系统的运动体征、感觉神经性缺陷和精神症状）和脑部影像学检查是诊断的关键。CT适用于检测钙化和出血以及血管造影。三轴MRI检查需要T1、T2、FLAIR序列（1岁起），必要时需T2序列或增强扫描，在任何急性情况下还需进行弥散加权成像。磁共振波谱分析可检测到乳酸和肌酸缺乏、高膜周转率时胆碱升高以及神经元死亡时N-乙酰天门冬氨酸降低。需要考虑髓鞘形成的正常顺序。产前和新生儿期异常包括囊性和基底节病变、脑回和髓鞘异常、胼胝体发育不全以及大的硬膜下腔隙。3个月龄后发现的异常包括基底节在T2加权像上呈高信号或低信号、T2加权像上呈低信号或钙化的白质异常，主要为脑室周围或皮质下，或有强化，伴有巨头畸形和/或大囊肿或非常小的囊肿以及髓鞘形成不良；可能存在“血管性”或假性卒中样病变、皮质萎缩、发育不全或脑干和/或小脑信号异常。波谱分析应检查基底节、白质和小脑。MRI可能在受累儿童的同胞临床前期发现脑部典型改变。
