Moyamoya syndrome in Schimke immuno-osseous dysplasia

Introduction. Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive multisystem disorder associated with biallelic mutations of the SMAR-CAL1 gene. Vascular central nervous system complications in form Moyamoya syndrome (MMS) have been reported as comorbidity nearly half patients clinically presenting severe migraine-like headaches, transient ischemic attacks (TIA), and or hemorrhagic infarctions. We present an illustrative case infantile SIOD MMS, review latest diagnostic possibilities, well current therapeutic dilemmas managing SIOD. Case report. female patient The proband was born small for gestational age 34th gestation week characteristic dysmorphic features. Genetic testing found biallelic, nonsense mutation c.2542G>T SMARCAL1 presented early TIA, seizures, recurrent strokes. Magnetic resonance imaging (MRI) confirmed presence progressive brain atrophy bilateral occlusion/stenosis middle cerebral artery anterior smoke-like collateral vessel appearance consistent MMS. At 5 years 9 months, developed high fever cough unknown cause, low erythrocyte white blood cell count during four weeks, poor response to antibiotics, transfusion red cells, granulocyte growth factor. She later died. Conclusion. Patients may vascular changes clinical neurologic deterioration course disease. In such patients, diagnosis preventive revascularization surgery are paramount importance. diagnosing MRI angiography can be appropriate substitute standard invasive angiography.