Deep White Matter Cysts in a Patient with Aicardi-Goutières Syndrome and SAMHD1 Variants

[摘要] Children appearing healthy at birth but developingdisease symptoms within the first weeks or months of lifeare among the most challenging in the clinic. The deterioration of their condition calls for rapid diagnosis andswift action, while on the other hand a slowly unfolding,and probably incomplete clinical picture, renders any diagnosis difficult. Often an infection in utero is suspected,and tests for toxoplasmosis, rubella, cytomegalovirus,herpes simplex virus, among others, are initiated. In a recent review, the diagnostic yield of these tests turned outto be limited, however [Fitzpatrick et al., 2021]. Alternatively, a neurologic disorder, such as Landau-Kleffner orAicardi-Goutières syndrome (AGS), is presumed. Thisparadigm prompts extensive neurologic investigationsand cranial computer tomography (CT) scans or magnetic resonance imaging (MRI) of the brain.

[学科分类] 基础医学