Abstract

Neuronal ceroid lipofuscinosis (NCL) is a range of inherited lysosomal storage disorders. This case highlights the cardiac pathology associated with NCL and reports improved seizure control following correction of cardiac arrhythmias.

A 26-year-old woman presented with episodes of altered awareness with head and eye deviation on a background of a progressive neurodegenerative disorder. She initially presented at 7 years of age with progressive retinal dystrophy. As a teenager she developed seizures with prominent myoclonus, psychosis, cognitive impairment and immobility. Her epilepsy was refractory to treatment and seizures had increased in frequency prior to admission.

ECG demonstrated sinus bradycardia of 30bpm and episodes of 20 s sinus arrest. This was managed by the insertion of a pacemaker, resulting in a dramatic reduction in the frequency of her seizures. Investigation into the underlying disorder was revisited identifying vacuolated lymphocytes and homozygous CLN3 gene deletions. These findings are consistent with a diagnosis of juvenile NCL (Batten disease).

This case demonstrates the importance of cardiac monitoring in investigating a change in seizure pattern. We hypothesise that the patient presented with reflex hypoxic seizures secondary to asystolic episodes. It also highlights the value of securing a diagnosis to enable appropriate cardiac screening in NCL patients.