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DOI: 10.1055/s-0039-1698247
Schimke Immunosseus Dysplasia, A Rare Cause of Stroke in Children
Publication History
Publication Date:
11 September 2019 (online)
Case History: D.S. was born premature at 29+3 weeks due to an IUGR and a path. Doppler flow, as the 3rd child of non-consanguineous parents, Apgar 6/9/10, NapH 7,01, Lactate 14,7 mmol/l. The cranial ultrasound showed post-hemorrhagic infarction on both sides on the first day of life, subsequently leading to the development of PVL. This resulted in a bilateral spastic cerebral palsy (leg>arm) within the first year of life and a severe developmental delay (at 5 years: only crawling, no speech). At 5 years of age the patient developed symptomatic epilepsy with right-sided focal seizures (start with Levetiracetam). 2 month later (may 2018) a nephrotic syndrome was diagnosed due to proteinuria, hypoalbuminemia and edema and a therapy with Prednisolon was started. Because of progressive steroid-resistent nephropathy a renal biopsy was performed, resulting in the diagnosis of focal segmental glomerulosclerosis. A therapy with cyclosporine A was initiated. Arterial hypertension (mean arterial pressure > 140 mmHg) was treated with Amlodipin and Losartan (Ramipril caused a dry cough). Due to recurring epileptic focal and generalized seizures (including a epileptic status over 55 min., cMRI showed no ischemic lesions) the anticonvulsive Medication was changed to Lamotrigin + Oxcarbazepin. In July 2018 the boy developed a sudden left-sided facial- and occulomotornerve paralysis. The MRI showed fresh ischemic infarction of the right insula region. We started to heparinize at a therapeutic dosage immediately. Shortly after we received the results of the genetic testing (performed due to the steroid-resistant nephropathy): the patient carries two compound-heterozygous pathogenic mutations in the SMARCAL1 gene. Subsequently a T-cell-deficiency was also diagnosed.
Background: Schimke immuno-osseous Dysplasia (SIOD) is a rare autosomal recessive multisystem disorder due to mutations in the SMARCAL1 gene. It is characterized by spondyloepiphyseal dysplasia resulting in short stature, steroid-resistant nephropathy resulting in renal failure, T-cell- deficiency and cerebral symptoms such as transient neurologic attacks or ischemic events. (1–3)
Discussion: Unfortunately we didn’t make the diagnosis of SIOD until after the second ischemic infarction at the age of 5. The unproportional short stature was disregarded due to the severe spastic cerebral palsy. An earlier diagnosis resulting in treatment with agents that decrease coagulability of the blood (acetylsalicylic acid, etc.) and continuous monitoring of neurologic symptoms might have prevented the second ischemic infarction.
Conclusion: SIOD should be considered in children with unusual growth retardation, skeletal abnormalities, steroid-resistant nephropathy and neurological symptoms such as transient neurologic attacks, migraine-like-headaches or epileptic seizures.
References
1. Morimoto M, et al. Schimke Immunoosseous Dysplasia. GeneReviews®. Adam MP et al., Editors. University of Washington, Seattle 1993–2019
2. Beleford DT et al. Schimke immunoosseous dysplasia and management considerations for vascular risks. AM J Med Gen