Susac syndrome: A rare pediatric case

Abstract

Susac syndrome is a rare microangiopathy of unclear etiology, likely autoimmune, characterized by a characteristic clinical triad of encephalopathy, retinopathy, and hypoacusis. The majority of cases reported in the literature involve adult patients, with its occurrence in the pediatric population being extremely rare. Magnetic resonance imaging (MRI) is essential for diagnosis and patient monitoring, revealing nearly pathognomonic features, particularly valuable given the typically incomplete clinical triad and the consistent presence of encephalopathy, often as the initial symptom. We report the case of an 11-year-old child diagnosed with Susac syndrome, highlighting the importance of considering this diagnosis in cases of childhood encephalopathy and initiating treatment as early as possible to prevent irreversible sequelae.

Keywords: Child; Encephalopathy; Magnetic resonance imaging; Susac syndrome.

Fig. 1

Brain MRI in sagittal T1 (A), sagittal FLAIR (B), axial diffusion (C), and axial T1 with gadolinium injection (D): showing small lesions in the corpus callosum (red arrow) with hypointensity on T1 (A), hyperintensity on FLAIR (B), restriction on diffusion (C), with no contrast enhancement at gadolinium injection (D).

Fig. 2

Angiographic MRI sequence showing no abnormalities.