Paroxysmal sympathetic hyperactivity following status epilepticus in a 22-year-old with Juvenile Neuronal Ceroid Lipofuscinosis: A case report

• Main Authors: Molly D. Himmelrich, Jennifer M. Pritchard, Camilo Gutierrez, Tara L.M. Dutta
• Format: Article
• Language: English
• Published: Elsevier 2021-01-01
• Series: Epilepsy & Behavior Reports
• Subjects: Paroxysmal sympathetic hyperactivity; Juvenile neuronal ceroid lipofuscinosis; Batten disease; Status epilepticus; Seizure; Case report
• Online Access: http://www.sciencedirect.com/science/article/pii/S2589986421000010

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.