Atypical presentation of a progressive and treatable encephalopathy in an older child with gelastic and dacrystic seizures

We discuss an unusual case of a teenage boy who presented with waxing and waning cognitive decline and gelastic - dacrystic seizures, evolving later into a rapidly progressive encephalopathy with status epilepticus. Extensive genetic and metabolic testing did not lead to a specific diagnosis. CSF studies performed during admission to the intensive care unit provided the information needed to establish a diagnosis. After implementation of specific treatment his seizures stopped and his background EEG returned to normal.
Source: Seminars in Pediatric Neurology - Category: Neurology Authors: Source Type: research