Moyamoya syndrome in Schimke immuno-osseous dysplasia

. Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive multisystem disorder associated with biallelic mutations of the SMARCAL1 gene. Vascular central nervous system complications in the form of Moyamoya syndrome (MMS) have been reported as a comorbidity in nearly half of the cases clinically presenting with severe migraine-like headaches, transient ischemic attacks (TIA) and ischaemic or haemorrhagic infarctions. We present an illustrative case of infantile form of SIOD with MMS, with a review of the latest diagnostic possibilities, as well as current diagnostic and therapeutic dilemmas in managing SIOD. Case report. We report the case of a female patient with the infantile form of SIOD. The proband was born small for gestational age in the 34th gestation week with characteristic dysmorphic features. Genetic testing found a biallelic, nonsense mutation c.2542G>T in the SMARCAL1 gene. She presented early with TIA, seizures and recurrent ischemic strokes. Magnetic resonance imaging (MRI) confirmed the presence of progressive brain atrophy with bilateral occlusion/stenosis of middle (MCA) and anterior (ACA) cerebral arteries and a smoke like collateral vessel appearance consistent with a Moyamoya syndrome. Conclusion. Patients with SIOD may present with progressive cerebral vascular changes and clinical neurologic deterioration early in the course of disease. In such patients early diagnosis and preventive revascularization surgery are of paramount importance. In diagnosing Moyamoya syndrome MRI angiography can be an appropriate substitute for a standard invasive cerebral angiography.