Minor head trauma-induced sporadic hemiplegic migraine coma
Minor head trauma-induced sporadic hemiplegic migraine coma
复制标题
DOI：
10.1016/j.pediatrneurol.2005.08.033
复制
发表时间：
2006-04-01
影响因子：
3.8
通讯作者：
Griffiths, LR
中科院分区：
文献类型：
--
作者：
Curtain, RP;Smith, RL;Griffiths, LR
家族性偏瘫性偏头痛是一种严重、罕见的偏头痛亚型。已在家族性偏瘫性偏头痛的钙通道、电压依赖性、P/Q 型、α-1A 亚基基因（染色体 19p13）中鉴定出 19 号染色体上的基因突变。最近，一种与家族性偏瘫性偏头痛（通常称为“偏头痛昏迷”）相关的严重综合征的基因突变（丝氨酸-218-亮氨酸）与该基因的外显子 5 有关。在此类家族性偏瘫性偏头痛患者中，轻微的头部外伤的发生也可能因清醒间隔后发生严重的、有时甚至致命的脑水肿和昏迷而变得复杂。散发性偏瘫性偏头痛具有相似的临床表现和遗传异质性。本文中提出的病例报告表明，丝氨酸-218-亮氨酸突变与轻微头部外伤引起的偏头痛昏迷这一极其罕见的疾病有关。我们得出结论，钙通道、电压依赖性、P/Q型、α-1A亚基基因中的丝氨酸21.8-亮氨酸突变与散发性偏瘫性偏头痛、迟发性脑水肿和轻微头部外伤后的昏迷有关。 (c) 2006 年，Elsevier Inc. 保留所有权利。
Familial hemiplegic migraine is a severe, rare subtype of migraine. Gene mutations on chromosome 19 have been identified in the calcium channel, voltage-dependent, P/Q type, alpha-1A subunit gene (chromosome 19p13) for familial hemiplegic migraine. Recently a gene mutation (Serine-218-Leucine) for a dramatic syndrome associated with familial hemiplegic migraine, commonly named "migraine coma", has implicated exon 5 of this gene. The occurrence of trivial head trauma, in such familial hemiplegic migraine patients, may also be complicated by severe, sometimes even fatal, cerebral edema and coma occurring after a lucid interval. Sporadic hemiplegic migraine shares a similar spectrum of clinical presentation and genetic heterogeneity. The case report presented in this article implicates the involvement of the Serine-218-Leucine mutation in the extremely rare disorder of minor head trauma-induced migraine coma. We conclude that the Serine-21.8-Leucine mutation in the calcium channel, voltage-dependent, P/Q type, alpha-1A subunit gene is involved in sporadic hemiplegic migraine, delayed cerebral edema and coma after minor head trauma. (c) 2006 by Elsevier Inc. All rights reserved.