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Association of migraine‐like headaches with Schimke immuno‐osseous dysplasia
Author(s) -
Kilic Sara Sebnem,
Donmez Osman,
Sloan Emily A.,
Elizondo Leah I.,
Huang Cheng,
André JeanLuc,
Bogdanovic Radovan,
Cockfield Sandra,
Cordeiro Isabel,
Deschenes Georges,
Fründ Stefan,
Kaitila Ilkka,
Lama Giuliana,
Lamfers Petra,
Lücke Thomas,
Milford David V.,
Najera Lydia,
Rodrigo Francisco,
Saraiva Jorge M.,
Schmidt Beate,
Smith Graham C.,
Stajic Nastasa,
Stein Anja,
Taha Doris,
Wand Dorothea,
Armstrong Dawna,
Boerkoel Cornelius F.
Publication year - 2005
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30692
Subject(s) - medicine , headaches , migraine , dysplasia , dermatology , refractory (planetary science) , gastroenterology , surgery , physics , astrobiology
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. © 2005 Wiley‐Liss, Inc.