• Aortoiliac and superior mesenteric artery narrowing and calcification in Singleton Merten syndrome

    Hajra Arshad, Elliot K Fishman
    Radiol Case Rep. 2025 Dec 20;21(3):1171-1175. doi: 10.1016/j.radcr.2025.11.037. eCollection 2026 Mar.

    Abstract

    Singleton Merten Syndrome (SMS) is a rare autosomal dominant disorder caused by IFIH1 or DDX58 mutations, characterized by chronic inflammation leading to vascular calcifications, valvular disease, musculoskeletal abnormalities, dental dysplasia, skin findings like psoriasis and glaucoma. We report an 8-year-old boy with a DDX58 mutation associated SMS who presented with difficulty walking and ankle pain, found to have extensive aortoiliac and mesenteric artery narrowing. Advanced imaging with computed tomography (CT) and cinematic rendering provided detailed vascular mapping, underscoring the importance of radiologic evaluation in detecting and evaluating the extent of vascular involvement in SMS.