The Neuronal Ceroid Lipofuscinosis (NCL) refers to a group of rare neurolipidosis disorders characterized by progressive blindness, deterioration of speech and motor function, cognitive decline, behav Show more
The Neuronal Ceroid Lipofuscinosis (NCL) refers to a group of rare neurolipidosis disorders characterized by progressive blindness, deterioration of speech and motor function, cognitive decline, behavior problems, seizures, and premature death. We report a case of a 22-year-old man with CLN3 variant, homozygous NCL (aka Juvenile Neuronal Ceroid Lipofuscinosis) complicated by epilepsy who presented with episodes of recurrent seizure-like activity following status epilepticus, but now without electrographic correlate. Episodes were accompanied by tachycardia, diaphoresis, hypertension, and a fearful facial expression likely representing paroxysmal sympathetic hyperactivity (PSH), and improved with administration of propranolol. It is possible that status epilepticus provoked these episodes of PSH. Show less