title: Association of migraine-like headaches with Schimke immuno-osseous dysplasia.
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 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.
authors.affiliation: Department of Pediatrics, Division of Immunology, Uludag University Medical Faculty, Görükle-Bursa, Turkey.
authors.forename: Sara Sebnem
authors.initials: SS
authors.lastname: Kilic
authors.forename: Osman
authors.initials: O
authors.lastname: Donmez
authors.forename: Emily A
authors.initials: EA
authors.lastname: Sloan
authors.forename: Leah I
authors.initials: LI
authors.lastname: Elizondo
authors.forename: Cheng
authors.initials: C
authors.lastname: Huang
authors.forename: Jean-Luc
authors.initials: JL
authors.lastname: André
authors.forename: Radovan
authors.initials: R
authors.lastname: Bogdanovic
authors.forename: Sandra
authors.initials: S
authors.lastname: Cockfield
authors.forename: Isabel
authors.initials: I
authors.lastname: Cordeiro
authors.forename: Georges
authors.initials: G
authors.lastname: Deschenes
authors.forename: Stefan
authors.initials: S
authors.lastname: Fründ
authors.forename: Ilkka
authors.initials: I
authors.lastname: Kaitila
authors.forename: Giuliana
authors.initials: G
authors.lastname: Lama
authors.forename: Petra
authors.initials: P
authors.lastname: Lamfers
authors.forename: Thomas
authors.initials: T
authors.lastname: Lücke
authors.forename: David V
authors.initials: DV
authors.lastname: Milford
authors.forename: Lydia
authors.initials: L
authors.lastname: Najera
authors.forename: Francisco
authors.initials: F
authors.lastname: Rodrigo
authors.forename: Jorge M
authors.initials: JM
authors.lastname: Saraiva
authors.forename: Beate
authors.initials: B
authors.lastname: Schmidt
authors.forename: Graham C
authors.initials: GC
authors.lastname: Smith
authors.forename: Nastasa
authors.initials: N
authors.lastname: Stajic
authors.forename: Anja
authors.initials: A
authors.lastname: Stein
authors.forename: Doris
authors.initials: D
authors.lastname: Taha
authors.forename: Dorothea
authors.initials: D
authors.lastname: Wand
authors.forename: Dawna
authors.initials: D
authors.lastname: Armstrong
authors.forename: Cornelius F
authors.initials: CF
authors.lastname: Boerkoel
mesh_terms: D001848:Bone Diseases, Developmental / Q000150:complications* / Q000378:metabolism / Q000473:pathology; D002648:Child; D004265:DNA Helicases / Q000032:analysis / Q000235:genetics; D006261:Headache / Q000150:complications* / Q000473:pathology; D006801:Humans; D007154:Immune System Diseases / Q000473:pathology; D007150:Immunohistochemistry; D008297:Male; D008881:Migraine Disorders / Q000150:complications / Q000473:pathology; D009154:Mutation; D012189:Retrospective Studies; D011795:Surveys and Questionnaires
chemical_list: C412482:SMARCAL1 protein, human; D004265:DNA Helicases