Association of migraine-like headaches with Schimke immuno-osseous dysplasia.
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.
Kilic
Sara Sebnem
SS
Department of Pediatrics, Division of Immunology, Uludag University Medical Faculty, Görükle-Bursa, Turkey.
Donmez
Osman
O
Sloan
Emily A
EA
Elizondo
Leah I
LI
Huang
Cheng
C
André
Jean-Luc
JL
Bogdanovic
Radovan
R
Cockfield
Sandra
S
Cordeiro
Isabel
I
Deschenes
Georges
G
Fründ
Stefan
S
Kaitila
Ilkka
I
Lama
Giuliana
G
Lamfers
Petra
P
Lücke
Thomas
T
Milford
David V
DV
Najera
Lydia
L
Rodrigo
Francisco
F
Saraiva
Jorge M
JM
Schmidt
Beate
B
Smith
Graham C
GC
Stajic
Nastasa
N
Stein
Anja
A
Taha
Doris
D
Wand
Dorothea
D
Armstrong
Dawna
D
Boerkoel
Cornelius F
CF
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
C412482:SMARCAL1 protein, human; D004265:DNA Helicases