Epperson Madison V, Haws Michael E, Standridge Shannon M, Gilbert Donald L
1 Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
2 University of Cincinnati College of Medicine, Cincinnati, OH, USA.
J Child Neurol. 2018 Mar;33(4):286-289. doi: 10.1177/0883073818754987. Epub 2018 Jan 25.
Some typical and atypical Rett syndrome patients lack known genetic mutations. Mutations in the P/Q type calcium channel CACNA1A have been implicated in epileptic encephalopathy, familial hemiplegic migraine, episodic ataxia 2, and spinocerebellar ataxia 6, but not Rett syndrome. Patient Description: The authors describe a female patient with developmental regression and a de novo, likely pathogenic mutation in CACNA1A who meets 3 of 4 main criteria (stereotypic hand movements, loss of purposeful hand movements, gait disturbance), and 6 of 11 supportive criteria (impaired sleep, abnormal tone, vasomotor disturbance, scoliosis, growth retardation, and screaming spells) for atypical Rett syndrome. Furthermore, she resembles the early seizure variant of Rett syndrome. Previously, 3 children with similar CACNA1A mutations have been reported, but a Rett syndrome phenotype has not been described.
CACNA1A mutations should be considered in children presenting with an atypical Rett syndrome phenotype, specifically, the early seizure variant.
一些典型和非典型雷特综合征患者缺乏已知的基因突变。P/Q型钙通道CACNA1A的突变与癫痫性脑病、家族性偏瘫性偏头痛、发作性共济失调2型和脊髓小脑共济失调6型有关，但与雷特综合征无关。患者描述：作者描述了一名患有发育倒退的女性患者，其CACNA1A基因存在新发的、可能致病的突变，该患者符合非典型雷特综合征4项主要标准中的3项（刻板手部动作、目的性手部动作丧失、步态障碍）以及11项支持性标准中的6项（睡眠障碍、肌张力异常、血管舒缩功能障碍、脊柱侧弯、生长发育迟缓、尖叫发作）。此外，她类似于雷特综合征的早期癫痫变异型。此前，已有3例具有相似CACNA1A突变的儿童被报道，但尚未描述其雷特综合征表型。
对于表现出非典型雷特综合征表型，特别是早期癫痫变异型的儿童，应考虑CACNA1A基因突变。
