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

Abstract

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.

Keywords: Batten disease; Case report; Juvenile neuronal ceroid lipofuscinosis; Paroxysmal sympathetic hyperactivity; Seizure; Status epilepticus.

Fig. 1

EEG tracings during admission. A) Longitudinal bipolar montage demonstrating baseline awake EEG; B & C) Longitudinal bipolar montage EEG demonstrating representative, sporadic interictal discharges, seen predominantly during sleep; D) Longitudinal bipolar montage EEG recording at the time of a typical clinical event. There was no clear change in the EEG from baseline seen with events.

Fig. 2

PSH Assessment Measure. This is the PSH-AM found in Meyfroidt et al. . The patient described had a CFS subtotal of 11 and a DLT subtotal of 7, giving him an PSH-AM score of 18. This makes PSH a probable diagnosis. * Indicates the symptoms present in the patient described.