| Literature DB >> 15884045 |
Sara Sebnem Kilic1, Osman Donmez, Emily A Sloan, Leah I Elizondo, Cheng Huang, Jean-Luc André, Radovan Bogdanovic, Sandra Cockfield, Isabel Cordeiro, Georges Deschenes, Stefan Fründ, Ilkka Kaitila, Giuliana Lama, Petra Lamfers, Thomas Lücke, David V Milford, Lydia Najera, Francisco Rodrigo, Jorge M Saraiva, Beate Schmidt, Graham C Smith, Nastasa Stajic, Anja Stein, Doris Taha, Dorothea Wand, Dawna Armstrong, Cornelius F Boerkoel.
Abstract
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 SMARCAL1. 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. Copyright (c) 2005 Wiley-Liss, Inc.Entities:
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Year: 2005 PMID： 15884045 DOI： 10.1002/ajmg.a.30692
Source DB: PubMed Journal: Am J Med Genet A ISSN： 1552-4825 Impact factor: 2.802