Moyamoya syndrome in a child with Schimke immuno-osseous dysplasia

Introduction: SchimkeImmuno-Osseous Dysplasia (SIOD) is a rare autosomal recessive disease caused by a biallelic mutation in SMARCAL1 gene. Typical findings in SchimkeImmuno-Osseous Dysplasia include spondylo-epiphyseal dysplasia, steroid resistance nephrotic syndrome, progressive renal failure, T-cell immunodeficiency, bone marrow failure, and cerebral infarction.Herein, we describe a 9-year-old girl with SIOD.Case report: The proband was the third offspring of healthy consanguineous parents (cousins). She presented with failure to thrive in infancy. At the age of 4 years nephrotic syndrome was confirmed for her. At the age of 6 years she developed right upper extremity paresthesia and weakness and brain MRI showed ischemic and hemorrhagic infarct in the left parieto-occipital and left caudate lobe. Two years later, she developed slurred speech and paresthesia, and weakness was progressed to her lower extremities. Brain MRI revealed new acute ischemic infarction in the right temporoparietal lobe. Encephalomalacia with surrounding gliosis was also noted involving the left parieto-occipital lobe because of the old infarction. Complete obstruction of the right MCA from the proximal part was seenin brain MRA. There was also evidence of significant wall irregularity and stenosis in basilar artery, PCA, ACA, internal carotid arteries, and vertebral arteries. These findings were infavour of moyamoya syndrome. In the last admission at the age of 9 years, she had new cerebral ischemia, developed seizure, and finally died because of cardiopulmonary arrest following pulmonary hemorrhage. Analysis of SMARCAL1 gene[1] revealed a homozygous nonsynonymous homozygous mutation c. [2459G> A].Conclusion: Moyamoya syndrome should be considered as a diagnosis in a child with SIOD and cerebral infarction.