Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.
Sachs' Children and Youth Hospital, Stockholm South General Hospital, Stockholm, Sweden.
Dev Med Child Neurol. 2018 Dec;60(12):1251-1255. doi: 10.1111/dmcn.13939. Epub 2018 Jun 28.
To elucidate the natural course of benign paroxysmal torticollis, the relationship of this disorder to migraine and other paroxysmal diseases, and to analyse candidate genes.
This was a case series of children with benign paroxysmal torticollis of infancy (BPTI) diagnosed from 1998 to 2005, at Astrid Lindgren Children's Hospital, Stockholm, Sweden. A neurological examination and a formalized motor assessment were performed from 2005 to 2007. At a second follow-up, in 2014 to 2015, the children and their parents were interviewed and candidate genes analysed.
The mean age of the eight females and three males included in the second follow-up was 13 years 9 months (SD 2y 2mo). All motor assessments were normal. Five had developed migraine, abdominal migraine, and/or cyclic vomiting. Prophylactic treatment or migraine-specific medication during attacks were not needed. No paroxysmal tonic upgaze, benign paroxysmal vertigo, epilepsy, episodic ataxia, or paroxysmal dyskinesia was reported. Rare genetic variants in CACNA1A and ATP1A2 were found in two children. Five had a family history of migraine.
BPTI is transient and does not lead to neurological sequelae. Most children afflicted experience either a mild migraine or no paroxysmal disorder at all in their adolescence. Genetic variants in candidate genes were few, indicating potential genetic heterogeneity.
After resolution of their benign paroxysmal torticollis of infancy (BPTI), children display no gross motor delay. Most adolescents who previously had BPTI have not developed migraine. No mutations in candidate genes, known to cause hemiplegic migraine, were found. Associated symptoms are often lacking during episodes of torticollis.
阐明良性阵发性斜颈的自然病程、该疾病与偏头痛和其他阵发性疾病的关系，并分析候选基因。
这是一项在瑞典斯德哥尔摩 Astrid Lindgren 儿童医院对 1998 年至 2005 年期间诊断为婴儿良性阵发性斜颈（BPTI）的儿童进行的病例系列研究。2005 年至 2007 年进行了神经学检查和规范化运动评估。在 2014 年至 2015 年的第二次随访中，对儿童及其父母进行了访谈并分析了候选基因。
在第二次随访中纳入的 8 名女性和 3 名男性的平均年龄为 13 岁 9 个月（标准差 2 岁 2 个月）。所有运动评估均正常。5 名患者出现偏头痛、腹型偏头痛和/或周期性呕吐。发作时无需预防性治疗或偏头痛特异性药物。无阵发性强直上视、良性阵发性眩晕、癫痫、发作性共济失调或阵发性运动障碍。在 2 名儿童中发现 CACNA1A 和 ATP1A2 罕见的遗传变异。5 名儿童有偏头痛家族史。
BPTI 是短暂的，不会导致神经后遗症。大多数受影响的儿童在青少年时期会经历轻度偏头痛或根本没有阵发性疾病。候选基因中的遗传变异很少，表明潜在的遗传异质性。
在婴儿良性阵发性斜颈（BPTI）痊愈后，儿童没有明显的运动迟缓。以前患有 BPTI 的大多数青少年都没有发展为偏头痛。未发现引起偏瘫性偏头痛的候选基因中的突变。斜颈发作期间通常缺乏相关症状。
