Moyamoya syndrome in Schimke immuno-osseous dysplasia

Ana  Vujić; Slobodan Obradović; Zoran Igrutinović; Zoran Protrka; Marijana Janković; Marija Radovanović; Nataša Stajić; Raša Medović; Sveta Janković

doi:10.2298/VSP210829022V

Ana Vujić University Clinical Center Kragujevac, Pediatrics Clinic, Kragujevac, Serbia
Slobodan Obradović University Clinical Center Kragujevac, Pediatrics Clinic, Kragujevac, Serbia
Zoran Igrutinović University Clinical Center Kragujevac, Pediatrics Clinic, Kragujevac, Serbia
Zoran Protrka University of Kragujevac, Faculty of Medical Sciences, Kragujevac, Serbia
Marijana Janković University of Kragujevac, Faculty of Medical Sciences, Kragujevac, Serbia
Marija Radovanović University Clinical Center Kragujevac, Pediatrics Clinic, Kragujevac, Serbia
Nataša Stajić Institute for Mother and Child Health Care of Serbia “Dr. Vukan Čupić”, Belgrade, Serbia
Raša Medović University Clinical Center Kragujevac, Pediatrics Clinic, Kragujevac, Serbia
Sveta Janković University Clinical Center Kragujevac, Pediatrics Clinic, Kragujevac, Serbia

DOI: https://doi.org/10.2298/VSP210829022V

Keywords: cerebrovascular disorders, diagnosis, magnetic resonance imaging, moyamoya disease, mutation, neurologic manifestation

Abstract

Introduction. 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 patients clinically presenting with severe migraine-like headaches, transient ischemic attacks (TIA), and ischemic or hemorrhagic infarctions. We present an illustrative case of an 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 present 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. The patient 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 cerebral artery and anterior cerebral artery and a smoke-like collateral vessel appearance consistent with the MMS. At the age of 5 years and 9 months, the patient developed a high fever and cough with unknown cause, with a low erythrocyte and white blood cell count during four weeks, with a poor therapeutic response to antibiotics, transfusion of red blood cells, and granulocyte growth factor. She later died. Conclusion. Patients with SIOD may present progressive cerebral vascular changes and clinical neurologic deterioration early in the course of the disease. In such patients, early diagnosis and preventive revascularization surgery are of paramount importance. In diagnosing MMS, MRI angiography can be an appropriate substitute for standard invasive cerebral angiography.

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