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- Title
Neurological symptoms in Schimke immuno-osseous dysplasia in a 11-year-old girl: a case report.
- Authors
Badeński, Andrzej; Badeńska, Marta; Trembecka-Dubel, Elżbieta; Grzywna-Rozenek, Ewa; Kluczewska, Ewa; Szczepańska, Maria
- Abstract
Background: Schimke immuno-osseous dysplasia (SIOD, OMIM 242900) is a rare, autosomal recessive, pleiotropic disease caused by mutations in the SMARCAL1 gene. SIOD is characterized by a triad of symptoms, i.e., progressive kidney disease due to focal segmental glomerulosclerosis (FSGS), spondyloepiphyseal dysplasia and T-cell immunodei ciency. Additionally, heterogeneous neurological symptoms are often observed in the course of the syndrome. Case: The authors describe the case of a 14-year-old girl with SIOD, who presented with recurrent neurological symptoms, such as migraine-like headaches, diplopia and seizures. She was born at 34 weeks of pregnancy with hypotrophy (1280 g) and short stature (44 cm). Nephrotic-range proteinuria, the i rst symptom of the disease, was detected at the age of 4 and a half years. Significant immunodei ciency was also observed. She was i nally diagnosed with Schimke immuno-osseous dysplasia on account of two pathogenic variants, c.836T>C (p.F279S) and c.2542G>T (p.E848X) identii ed in the SMARCAL1 gene. Conclusions: This report describes the clinical features and neuroimaging i ndings of a patient with SIOD. It also presents a possible correlation between neurological events and the Schimke disease, which should be considered during the diagnostic process.
- Subjects
DYSPLASIA; SYMPTOMS; SHORT stature; DISEASE progression; FOCAL segmental glomerulosclerosis; KIDNEY diseases; DIPLOPIA
- Publication
Paediatria Croatica, 2021, Vol 65, Issue 4, p199
- ISSN
1330-1403
- Publication type
Case Study
- DOI
10.13112/PC.2021.34