Whole exome sequencing in a child with acute disseminated encephalomyelitis optic neuritis and periodic fever syndrome: a case report

摘要

Fluid-attenuated inversion recovery T2 sequences showing multiple hyperintense lesions through the years. 2008: Multiple injuries, mainly subcortical in temporal and occipitotemporal gyrus, and in the white matter of the corona radiata and semioval center. Lesions are enhanced after contrast. 2010: Frontal subcortical injuries. Periatrial and parahippocampal lesions. There is a persistence of white matter lesions, and there are new infratentorial lesions. 2011: Persistence of the periatrial lesions and left midbrain lesion. 2013: Persistence of periatrial lesions and two small and new lesions in the basal ganglia infratentorial lesions. 2014: New appearance of lesions in the cortex. Frontal and right superior temporal subcortical lesions. Right periatrial lesion has increased in size, reaching the cortex, parietal and occipital gyrus and corona radiata. 2015: Persistence of periatrial lesions. There are smaller lesions in the white matter of the middle and lower right temporal gyrus and the semioval center. 2017: After 7 months with intravenous immunoglobulin treatment – same lesions as the last magnetic resonance imaging in 2015. No new changes