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 heada...

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Published in:American journal of medical genetics. Part A 2005-06, Vol.135A (2), p.206-210
Main Authors: Kilic, Sara Sebnem, Donmez, Osman, Sloan, Emily A., Elizondo, Leah I., Huang, Cheng, André, Jean‐Luc, 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.
Format: Article
Language:English
Subjects:
Bone Diseases, Developmental - complications
Bone Diseases, Developmental - metabolism
Bone Diseases, Developmental - pathology
Child
DNA Helicases - analysis
DNA Helicases - genetics
headache
Headache - complications
Headache - pathology
Humans
Immune System Diseases - pathology
immunodeficiency
Immunohistochemistry
Male
migraine
Migraine Disorders - complications
Migraine Disorders - pathology
Mutation
renal failure
Retrospective Studies
skeletal dysplasia
Surveys and Questionnaires
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Summary: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.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.30692