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

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

American journal of medical genetics. Part A, cilt.135, sa.2, ss.206-10, 2005 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 135 Sayı: 2
  • Basım Tarihi: 2005
  • Doi Numarası: 10.1002/ajmg.a.30692
  • Dergi Adı: American journal of medical genetics. Part A
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.206-10
  • Anahtar Kelimeler: migraine, headache, skeletal dysplasia, renal failure, immunodeficiency, NEPHROTIC SYNDROME, SPONDYLOEPIPHYSEAL DYSPLASIA, IMMUNOOSSEOUS DYSPLASIA, DISEASE
  • Bursa Uludağ Üniversitesi Adresli: Evet

Özet

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.