Association of migraine-like headaches with schimke immuno-osseous dysplasia
Association of migraine-like headaches with schimke immuno-osseous dysplasia
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DOI：
10.1002/ajmg.a.30692
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发表时间：
2005-06-01
影响因子：
2
通讯作者：
Boerkoel, CF
中科院分区：
文献类型：
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作者：
Kilic, SS;Donmez, O;Boerkoel, CF
Schimke免疫性骨发育不良（SIOD）以脊椎骨骺为特征。发育不良、肾病和T细胞缺乏症。SIOD是由假定的染色质重塑蛋白SAL&RCAL1的突变引起的。我们报告一个8岁的男孩与SIOD和复发性，严重的，难治性偏头痛样头痛。通过一项回顾性的基于神经病学的研究，我们发现难治性和严重致残性偏头痛样头痛发生在近一半的SIOD患者中。我们还发现，血管扩张剂米诺地尔为一名患者提供了症状缓解。我们假设这些头痛可能是由于SMARCAL 1功能丧失导致的内在血管、神经免疫或神经血管缺陷引起的。(c)2005 Wiley-Liss，Inc.
Schimke immuno-osseous dysplasia (SIOD) is characterized by spondyloepiphyseal. dysplasia, nephropathy, and T-cell deficiency. SIOD is caused by mutations in the putative chromatin remodeling protein SAL&RCAL1. We report an 8-year-old boy with SIOD and recurrent, severe, refractory migraine-like headaches. Through a retrospective questionnaire-based study, we found that refractory and severely disabling migraine-like headaches occur in nearly half of SIOD patients. We have also found that the vasodilator minoxidil provided symptomatic relief for one patient. We hypothesize that these headaches may arise from an intrinsic vascular, neuroimmune, or neurovascular defect resulting from loss of SMARCAL1 function. (c) 2005 Wiley-Liss, Inc.