Abstract
We report a case study of an 11-year-old Japanese boy with complex partial status epilepticus, a type of non-convulsive status epilepticus, concomitant with DOOR syndrome. To our knowledge, this is the first report of this type of epilepsy concomitant with DOOR syndrome. Magnetic resonance (MR) imaging showed diffuse atrophy of the cerebellar cortex. The cerebellar cortex was hyperintense on T2-weighted imaging. This finding of MR imaging is rare and has been considered pathognomonic for infantile neuroaxonal dystrophy and Marinesco–Sjogren syndrome which are in the entity of metabolic disease. So this lesion may be the result of a metabolic defect occurring in conjunction with DOOR syndrome.
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