The Patient Was Maintained On Decongestive Therapy

Abstract

In a study of infantile-onset Sandhof disease in 2018 in Iran, involving 25 patients with the condition, the most common and earliest clinical manifestations were motor and cognitive milestones delay and regression .Cherry-red spots are a characteristic ocular and physical sign of infantile SD and can be used for early detection in patients who are suspected to have this disease. Organomegaly was detected in only two patients, and some associations between difuse Mongolian spots and SD were found to be signifcant . Accumulation of calcium associated with collection of GM2 ganglioside leads to gliosis and loss of myelin and axon in cortical neurons, giving rise to some of the earliest fndings on T2-weighted images of brain MRI, including bilateral thalamic hypodensity and hypomyelination, that are characteristic of brain involvement in the infantile SD disease, which were detected in the same study