Publication: Association of migraine-like headaches with schimke immuno-osseous dysplasia
Date
Authors
Kılıç, Sara Şebnem
Dönmez, Osman
Authors
Sloan, Emily A.
Elizondo, Leah I.
Huang, Cheng
André, Jean-Luc
Bogdanovic, Radovan
Cockfield, Sandra
Cordeiro, Isabel
Deschenes, Georges
Fründ, Stefan
Kaitila, Ilkka
Advisor
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Wiley
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Volume Title
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 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.
Description
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Keywords
Migraine, Immunodeficiency, Skeletal dysplasia, Headache, Renal failure, Nephrotic syndrome, Immunoosseous dysplasia, Spondyloepiphyseal dysplasia, Disease, Genetics & heredity
Citation
Kılıç, S. Ş. vd. (2005). "Association of migraine-like headaches with schimke immuno-osseous dysplasia". American Journal of Medical Genetics Part A, 135A(2), 206-210.