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

Sara Sebnem Kilic, 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 SchmidtGraham C. Smith, Nastasa Stajic, Anja Stein, Doris Taha, Dorothea Wand, Dawna Armstrong, Cornelius F. Boerkoel

Research output: Contribution to journalArticlepeer-review

29 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)206-210
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume135 A
Issue number2
StatePublished - Jun 1 2005


  • Headache
  • Immunodeficiency
  • Migraine
  • Renal failure
  • Skeletal dysplasia


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