Department of Developmental Medicine, Royal Children's Hospital, Melbourne, Victoria, Australia.
Dev Med Child Neurol. 2011 Mar;53(3):226-32. doi: 10.1111/j.1469-8749.2010.03810.x.
For the 9% to 16% of children with cerebral palsy (CP) who have normal brain imaging, further testing for metabolic and/or genetic conditions has been recommended. This study aimed to identify a cohort of children with CP with normal magnetic resonance imaging (MRI), clinically review and describe the cases, and assess the value of testing for inherited metabolic disorders in these children.
Children with congenital CP born from 1999 to 2005 were selected from a population register. Normal MRI reports were identified and the scans reassessed. Children whose scans were performed before 18 months were excluded, as were children with spastic CP (Gross Motor Function Classification System [GMFCS] level I). The remainder were reviewed clinically and offered investigations.
Of 730 children identified, 515 had available imaging and 54 were confirmed as normal. Cases with non-spastic CP and those with milder clinical severity were more likely to have normal imaging. Twenty-three children (17 males, six females; mean age 6 y 11 mo, SD 1 y 10 mo, range 3 y 0 mo to 10 y 0 mo) were reviewed clinically and offered investigations. Twelve children had spasticity (11 with diplegia, one quadriplegia), three had dyskinesia, five ataxia, and three hypotonia. Two children functioned in GMFCS level I, 11 in level II, seven in level III and three in level IV. Four children with spasticity had unusual features. No alternative diagnoses were made.
Although important to consider in individual cases, comprehensive metabolic testing failed to clarify the aetiology of CP further in this large cohort of children with normal MRIs, even those with atypical features.
对于脑性瘫痪（CP）患儿中有 9%至 16%脑影像学正常，建议对其进行代谢和/或遗传疾病的进一步检查。本研究旨在确定一组脑影像学正常的 CP 患儿，对其进行临床回顾和描述，并评估对这些患儿进行遗传性代谢紊乱检测的价值。
从人群登记册中选择 1999 年至 2005 年出生的先天性 CP 患儿。确定正常的 MRI 报告，并重新评估扫描结果。排除在 18 个月前进行扫描的患儿，以及痉挛型 CP（粗大运动功能分类系统[GMFCS] I 级）患儿。对其余患儿进行临床回顾，并提供检查。
在 730 名患儿中，515 名患儿有影像学资料，其中 54 名患儿被证实为正常。非痉挛型 CP 患儿和临床严重程度较轻的患儿更有可能出现正常的影像学表现。23 名患儿（17 名男性，6 名女性；平均年龄 6 岁 11 个月，标准差 1 岁 10 个月，范围 3 岁 0 个月至 10 岁 0 个月）进行了临床评估并接受了检查。12 名患儿有痉挛（11 名双瘫，1 名四肢瘫），3 名患儿有运动障碍，5 名患儿共济失调，3 名患儿肌张力低下。2 名患儿 GMFCS 分级为 I 级，11 名患儿为 II 级，7 名患儿为 III 级，3 名患儿为 IV 级。4 名痉挛患儿有不典型表现。未发现其他诊断。
即使在 MRI 正常的大量患儿中，包括有不典型特征的患儿，全面代谢检查也未能进一步阐明 CP 的病因，尽管在个别病例中需要考虑这一点。
