Schimke immunoosseous dysplasia: a multisystem disorder
DOI:
https://doi.org/10.18203/2349-3291.ijcp20231514Keywords:
Schimke immunoosseous dysplasia, Renal insufficiency, Skeletal dysplasia, StrokeAbstract
Schimke immunoosseous dysplasia is an autosomal recessive disorder characterized by spondyloepiphyseal dysplasia, lymphopenia with defective cellular immunity, and renal insufficiency. It is caused by a biallelic mutation in SMARCAL 1 gene. In this study, we described clinical and genetic diagnosis of a 5 years old girl who presented to our centre with short stature and repeated infections in the past. She had one episode of stroke in the past due to infarction and she was diagnosed with hypertension 1 year back. Last admission in the hospital, she had new stroke episode and found to have steroid resistant nephrotic syndrome.
References
Spranger J, Hinkel GK, Stoss H, Thoenes W, Wargowski D, Zepp F. Schimke immuno-osseous dysplasia: a newly recognized multisystem disease. J Pediatr. 1991;119:64-72.
Ehrich JH, Offner G, Schirg E, Hoyer PF, Helmchen U, Brodehl J. Association of spondylo-epiphyseal dysplasia with nephrotic syndrome. Pediatr Nephrol. 1990;4:117-21.
Ehrich JH, Burchert W, Schirg E, Krull F, Offner G, Hoyer PF, et al. Steroid resistant nephrotic syndrome associated with spondyloepiphyseal dysplasia, transient ischemic attacks and lymphopenia. Clin Nephrol. 1995;43(2):89-95.
Kilic SS, Donmez O, Sloan EA, Elizondo LI, Huang C, André J, et al. Association of migraine-like headaches with Schimke immuno-osseous dysplasia. Am J Med Genet A. 2005;135(2):206-10.
Haffner DN, Rollins NK, Dowling MM. Reversible cerebral vasoconstriction syndrome: a novel mechanism for neurological complications in Schimke immuno-osseous dysplasia. Pediatr Neurol. 2019;92:67-70.
Boerkoel CF, O’Neill S, Andre JL, Benke PJ, Bogdanovíć R, Bulla M, et al. Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature. Eur J Pediatr. 2000;159(1-2):1-7.
Babaei AH, Inaloo S, Basiratnia M. Schimke immuno-osseous dysplasia: a case report. Indian J Nephrol. 2019;29(4):291-4.
Boerkoel CF, Takashima H, John J, Yan J, Stankiewicz P, Rosenbarker L, et al. Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. Nature Genet. 2002;30:215-20.
Ehrich JHH, Offner G, Schirg E, Hoyer PF, Helmchen U, Brodehl J. Association of spondylo-epiphyseal dysplasia with nephrotic syndrome. Pediat Nephrol. 1990;4:117-21.
Clewing JM, Antalfy BC, Lucke T, Najafian B, Marwedel KM, Hori A, et al. Schimke immuno-osseous dysplasia: a clinicopathological correlation. J Med Genet. 2007;44:122-30.
Lou S, Lamfers P, McGuire N, Boerkoel CF. Longevity in Schimke immuno-osseous dysplasia. J Med Genet. 2002;39:922-5.
Lucke TD, Franke D, Clewing JM, Boerkoel CF, Ehrich JHH, Das AM, et al. Schimke versus non-Schimke chronic kidney disease: an anthropometric approach. Pediatrics. 2006;118(2):400-7.
