Schimke immune osseous dysplasia: a rare case report

Vani H. N., Chidananda Gudur, Supriya N., Pragalatha Kumar, Raghupathy P.


Schimke immune-osseous dysplasia (SIOD) is primarily characterized by the combination of spondyloepiphyseal dysplasia (SED), unique clinical phenotype, immune complex nephropathy (focal segmental glomerulosclerosis) and progressive immune defects with T-cell immunodeficiency. SIOD is caused by mutations in SMARCAL1 gene. Here we report a case of a 6-year-old girl who presented to us with disproportionate short stature, short neck kyphoscoliosis, hyper pigmented macules and severe herpes zoster. On further evaluation, she had evidence of T cell deficiency and nephrotic range of proteinuria. Renal histopathology documented focal segmental glomerular sclerosis. Genetic analysis confirmed homozygous missense mutation of SMARCAL gene on exon 8 variant c1358G>c. On extensive literature survey, this is noted to be the first case of SIOD reported from India. These children need close surveillance to watch for infections and progressive renal failure and require special care during administration of certain drugs and live vaccines.


Immunodeficiency, Schimke immune-osseous dysplasia, Short stature, Steroid resistant nephrotic syndrome

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Bakr A, Eid R, Sarhan A, Hammad A, El-Refaey AM, El-Mougy A et al. Schimke immune osseous dysplasia:A Case report. Saudi J Kidney Dis Transpl. 2015;26:987-91.

Saraiva JM, Dinis A, Resende C, Faria E, Gomes C, Correia AJ, et al. Schimkeimmuno-osseous dysplasia: case report and review of 25 patients. J Med Genet.1999;36(10):786-9.

Schimke RN, Horton WA, King CR. Chondroitin-6-sulphaturia, defective cellular immunity, and nephrotic syndrome. Lancet. 1971;2(7733):1088-9.

Clewing JM, Antalfy BC, Lücke T, Najafian B, Marwedel KM, Hori A, et al. Schimkeimmuno-osseous dysplasia: a clinic pathological correlation. J Med Genet. 2007; 44(2):122-30.

Boerkoel CF, Takashima H, John J, Yan J, Stankiewicz P, Rosenbarker L, et al. Mutant chromatin remodeling protein SMARCAL1 causes Schimkeimmuno-osseous dysplasia. Nat Genet. 2002;30(2):215-20.

Basiratnia M, Baradaran-Heravi A, Yavarian M, Geramizadeh B, Karimi M. Nonhodgkin lymphoma in a child with Schimkeimmuno-osseous dysplasia. Iran J Med Sci. 2011;36(3):222-5.

Ludman MD, Cole DE, Crocker JF, Cohen MM Jr. Schimkeimmuno-osseous dysplasia: case report and review. Am J Med Genet. 1991;47(5):793-96.

Lou S, Lamfers P, McGuire N, Boerkoel CF. Longevity in Schimkeimmuno-osseous dysplasia. J Med Genet. 2002; 39(12):922-25.

Santangelo L, Gigante M, Netti GS, Diella S, Puteo F, Carbone V, et al. A novel SMARCAL1 mutation associated with a mild phenotype of Schimkeimmuno-osseous dysplasia (SIOD). BMC Nephrol. 2014;15:41.

Barraza-García J, Rivera-Pedroza CI, Belinchón A, Fernández-Camblor C, Valenciano-Fuente B, Lapunzina P, et al. A novel SMARCAL1 missense mutation that affects splicing in a severely affected Schimke immune-osseous dysplasia patient. Eur J Med Genet. 2016;59(8):363-6.

Boerkoel CF, O'Neill S, Andre JL, Benke PJ, Bogdanovic R, Bulla M, et al. Manifestations and treatment of Schimkeimmuno-osseous dysplasia: 14 new cases and a review of the literature. Eur J Pediatr. 2000;159(1-2):01-7.