Ayşe İpek POLAT, Uluç YİŞ, Müge AYANOĞLU, Ayşe Semra HIZ, Handan GÜLERYÜZ, Tülay ÖZTÜRK-ATASOY, Cornelius F. BOERKOEL

Importance of neurologic and cutaneous signs in the diagnosis of Schimke immuno-osseous dysplasia

Polat Aİ, Yiş U, Ayanoğlu M, Hız AS, Güleryüz H, Öztürk-Atasoy T, Boerkoel CF. Importance of neurologic and cutaneous signs in the diagnosis of Schimke immuno-osseous dysplasia. Turk J Pediatr 2015; 57: 509-513. Schimke immuno-osseous dysplasia is an autosomal recessive multisystem disorder caused by defects in SWI/SNF-related, matrix-associated, actindependent regulator of chromatin, subfamily a-like 1 gene (SMARCAL1). SMARCAL1 product is a helicase that has role in selective cellular proliferation. The disorder is characterized by spondyloepiphyseal dysplasia with short stature, nephropathy, T cell deficiency, neurologic and cutaneous signs. Patients may have hyperpigmented skin lesions similar to café au lait spots. Symptoms and disease severity in Schimke immuno-osseous dysplasia varies from patient to patient. Genetic, epigenetic and environmental factors play role on the severity of the disease. Here we report on a patient with short stature, steroid resistant nephrotic syndrome and recurrent infections. Cutaneous findings and developmental delay helped us to reach the diagnosis of Schimke immuno-osseous dysplasia. A homozygous missense mutation in SMARCAL1 gene confirmed the clinical diagnosis.

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1. Boerkoel CF, O’Neill S, Andre JL, et al. Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature. Eur J Pediatr 2000; 159: 1-7.

2. Yue Z, Xiong S, Sun L, et al. Novel compound mutations of SMARCAL1 associated with severe Schimke immuno-osseous dysplasia in a Chinese patient. Nephrol Dial Transplant 2010; 25: 1697-1702.

3. Morimoto M, Baradaran-Heravi A, Lücke T, Boerkoel CF. Schimke immuno-osseous dysplasia 2002 (updated 2013). GeneReviews (Internet).

4. Deguchi K, Clewing JM, Elizondo LI, et al. Neurologic phenotype of Schimke immuno-osseous dysplasia and neurodevelopmental expression of SMARCAL1. J Neuropathol Exp Neurol 2008; 67: 565-577.

5. Yusufzai T, Kadonaga JT. HARP is an ATP-driven annealing helicase. Science 2008; 322: 748-750.

6. Elizondo LI, Cho KS, Zhang W, et al. Schimke immuneosseous dysplasia: SMARCAL1 loss of function and phenotypic correlation. J Med Genet 2009; 46: 49-59.

7. Clewing JM, Fryssira H, Goodman D, et al. Schimke immunoosseous dysplasia: suggestions of genetic diversity. Human Mutat 2007; 28: 273-283.

8. Saraiva JM, Dinis A, Resende C, et al. Schimke immuno-osseous dysplasia: case report and review of 25 patients. J Med Genet 1999; 36: 786-789.