Association of migraine-like headaches with Schimke immuno-osseous dysplasia

Sara Sebnem Kilic; Osman Donmez; Emily A. Sloan; Leah I. Elizondo; Cheng Huang; Jean Luc André; Radovan Bogdanovic; Sandra Cockfield; Isabel Cordeiro; Georges Deschenes; Stefan Fründ; Ilkka Kaitila; Giuliana Lama; Petra Lamfers; Thomas Lücke; David V. Milford; Lydia Najera; Francisco Rodrigo; Jorge M. Saraiva; Beate Schmidt; Graham C. Smith; Nastasa Stajic; Anja Stein; Doris Taha; Dorothea Wand; Dawna Armstrong; Cornelius F. Boerkoel

doi:10.1002/ajmg.a.30692

Association of migraine-like headaches with Schimke immuno-osseous dysplasia

Sara Sebnem Kilic, Osman Donmez, Emily A. Sloan, Leah I. Elizondo, Cheng Huang, Jean Luc André, Radovan Bogdanovic, Sandra Cockfield, Isabel Cordeiro, Georges Deschenes, Stefan Fründ, Ilkka Kaitila, Giuliana Lama, Petra Lamfers, Thomas Lücke, David V. Milford, Lydia Najera, Francisco Rodrigo, Jorge M. Saraiva, Beate SchmidtGraham C. Smith, Nastasa Stajic, Anja Stein, Doris Taha, Dorothea Wand, Dawna Armstrong, Cornelius F. Boerkoel

Pediatrics - Nephrology

Research output: Contribution to journal › Article › peer-review

29 Scopus citations

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.

Original language	English (US)
Pages (from-to)	206-210
Number of pages	5
Journal	American Journal of Medical Genetics
Volume	135 A
Issue number	2
DOIs	https://doi.org/10.1002/ajmg.a.30692
State	Published - Jun 1 2005

Keywords

Headache
Immunodeficiency
Migraine
Renal failure
Skeletal dysplasia

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Kilic, S. S., Donmez, O., Sloan, E. A., Elizondo, L. I., Huang, C., André, J. L., Bogdanovic, R., Cockfield, S., Cordeiro, I., Deschenes, G., Fründ, S., Kaitila, I., Lama, G., Lamfers, P., Lücke, T., Milford, D. V., Najera, L., Rodrigo, F., Saraiva, J. M., ... Boerkoel, C. F. (2005). Association of migraine-like headaches with Schimke immuno-osseous dysplasia. American Journal of Medical Genetics, 135 A(2), 206-210. https://doi.org/10.1002/ajmg.a.30692

Kilic, SS, Donmez, O, Sloan, EA, Elizondo, LI, Huang, C, André, JL, Bogdanovic, R, Cockfield, S, Cordeiro, I, Deschenes, G, Fründ, S, Kaitila, I, Lama, G, Lamfers, P, Lücke, T, Milford, DV, Najera, L, Rodrigo, F, Saraiva, JM, Schmidt, B, Smith, GC, Stajic, N, Stein, A, Taha, D, Wand, D, Armstrong, D & Boerkoel, CF 2005, 'Association of migraine-like headaches with Schimke immuno-osseous dysplasia', American Journal of Medical Genetics, vol. 135 A, no. 2, pp. 206-210. https://doi.org/10.1002/ajmg.a.30692

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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.",

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AU - Sloan, Emily A.

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AU - Huang, Cheng

AU - André, Jean Luc

AU - Bogdanovic, Radovan

AU - Cockfield, Sandra

AU - Cordeiro, Isabel

AU - Deschenes, Georges

AU - Fründ, Stefan

AU - Kaitila, Ilkka

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AU - Lamfers, Petra

AU - Lücke, Thomas

AU - Milford, David V.

AU - Najera, Lydia

AU - Rodrigo, Francisco

AU - Saraiva, Jorge M.

AU - Schmidt, Beate

AU - Smith, Graham C.

AU - Stajic, Nastasa

AU - Stein, Anja

AU - Taha, Doris

AU - Wand, Dorothea

AU - Armstrong, Dawna

AU - Boerkoel, Cornelius F.

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AB - 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.

KW - Headache

KW - Immunodeficiency

KW - Migraine

KW - Renal failure

KW - Skeletal dysplasia

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Association of migraine-like headaches with Schimke immuno-osseous dysplasia

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