Akademik Veri Yönetim Sistemi
16th European Paediatric Neurology Society Congress, Munich, Almanya, 8 - 12 Temmuz 2025, ss.821, (Özet Bildiri)
Background: Smooth muscle dysfunction syndrome (SMDYS) is caused by a heterozygous mutation, predominantly de novo, in the actin protein encoded by the ACTA2 gene on chromosome 10q23. Arg179His variants in ACTA2 are associated with a neurovascular phenotype. This report describes a 16-year-old girl who presented with vertigo and stenosis of the internal carotid arteries (ICA). Case presentation: A 16-year-old girl presented with intermittent dizziness and vertigo for the past 3 months. Her medical history includes patent ductus arteriosus (PDA) closure in the neonatal period, valve surgery one year ago for aneurysmal aortic dilatation, and it was noted that she had fixed dilated pupils at the age of 3.5 years. Brain magnetic resonance imaging (MRI) showed that both the internal carotid arter (ICA) and the intracranial vascular structures followed a straight course, with fusiform enlargement of both the cavernous and petrous segments of the ICAs and narrowing at the supraclinoid level. Based on these findings, an ACTA2 gene analysis was performed, which identified a heterozygous Arg179His variant in ACTA2. Conclusions: One of the striking features of SMDYS is the presence of a patent ductus arteriosus (PDA) requiring repair in infancy and also characterised by a wide spectrum of vascular disease due to smooth muscle cell dysfunction in the cerebral vessels, pupils and heart. The Arg179His variant is known to be associated with a straight course of the intracranial arteries, absence of basal Moyamoya collaterals, dilation of the proximal internal carotid arteries and occlusive disease of the terminal internal carotid arteries. As shown in this case, although the MRI raised a high index of suspicion for the diagnosis, the patient's history and genetic analysis provide a clear path to the correct diagnosis.