Department of Child Neurology, Children's Hospital, University of Tübingen, Germany.
Pediatr Neurol. 2013 Oct;49(4):286-8. doi: 10.1016/j.pediatrneurol.2013.04.011. Epub 2013 Jul 4.
Sporadic and familial hemiplegic migraines are rare paroxysmal disorders characterized by transient hemiparesis and headache. The distinction is based on whether other family members are affected. In 50% of cases, these migraines are caused by CACNA1 A missense mutations.
We describe a boy with a particularly severe phenotype and a de novo R1349Q mutation of the CACNA1 A gene.
The patient suffered from early-onset profound mental retardation, epileptic seizures, cerebellar ataxia, and progressive cerebellar atrophy. He experienced prolonged attacks of migraine with hemiparesis, seizures, altered consciousness, and fever resulting from minor head traumas. A prolonged hemiplegic attack improved following a 5-day treatment of 100 mg/d methylprednisolone.
R1349Q mutation of the CACN1 A gene may be associated with a severe phenotype. Corticoids might be beneficial in prolonged hemiplegic attacks.
散发性和家族性偏瘫性偏头痛是罕见的阵发性疾病，其特征是短暂性偏瘫和头痛。这种区别的基础是其他家庭成员是否受到影响。在 50%的病例中，这些偏头痛是由 CACNA1A 错义突变引起的。
我们描述了一名男孩，他具有特别严重的表型和 CACNA1A 基因的新发性 R1349Q 突变。
患者患有早发性严重智力障碍、癫痫发作、小脑共济失调和进行性小脑萎缩。他经历了偏头痛伴偏瘫、癫痫发作、意识改变和因轻微头部创伤而发热的长时间发作。在接受 100mg/d 甲基强的松龙 5 天治疗后，长时间的偏瘫发作得到改善。
CACN1A 基因的 R1349Q 突变可能与严重表型有关。皮质类固醇可能对长时间的偏瘫发作有益。
