Association of migraine-like headaches with Schimke immuno-osseous dysplasia.

Kilic S. Ş., Donmez O., Sloan E., Elizondo L., Huang C., Andre J., ...More

American journal of medical genetics. Part A, vol.135, no.2, pp.206-10, 2005 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 135 Issue: 2
  • Publication Date: 2005
  • Doi Number: 10.1002/ajmg.a.30692
  • Journal Name: American journal of medical genetics. Part A
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.206-10
  • Keywords: migraine, headache, skeletal dysplasia, renal failure, immunodeficiency, NEPHROTIC SYNDROME, SPONDYLOEPIPHYSEAL DYSPLASIA, IMMUNOOSSEOUS DYSPLASIA, DISEASE
  • Bursa Uludag University Affiliated: Yes


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.