P 89 Case presentation – Clinically unrecognized status epilepticus in neuronal ceroid lipofuscinosis (CLN 3 gene)

Abstract

On the previous day the 12-year-old boy P.-J. had a convulsive spasm (duration about 30 s) in the morning and at noon. After that, he recovered and went outside for a walk. Before the evening meal P.-J. cramped again. Since then, he was not really awake, was not responsive, and had repeatedly convulsions (seven times on the day of admission). In between he was always sleepy and unresponsive. Since noon on the previous day, P. Luca did not eat and drink any more and did not take his medication. In the evening, the emergency physician was called, who did not administer any medicines because of stable vital parameters and only a short convulsive spasm when drawing blood from the vein. On admission P.-J. was sleepy, but responded to pain. He did not open his eyes spontaneously but defended himself normally. Other neurological and clinical examination was normal. Laboratory, except for a slight hypernatremia, was normal. On the day of admission, the parents rejected the MRI, which we proposed under sedation, as well as a drug therapy including the continuation of the treatment with levetirazetam. On the second day of treatment the patient was somnolent with a weak pupillary reflex and he was only slightly responsive to speech and pain stimuli. An emergency EEG showed a neurophysiological status epilepticus without any clinically convulsive symptoms. The current EEG was shown to the mother who then agreed to a drug therapy after telephone consultation with her husband. After a single intravenous administration of clonazepam, the spasm potentials in the EEG disappeared, with a short-term normal EEG (a few seconds), and rapidly changed into a slow rhythm with high delta waves. The patient did not wake up at any time but rapidly fell into deep sleep, recognizable by regular snoring breathing sounds (according to parents “as always after the attack”). Only then we learned from the father, who arrived shortly thereafter, that the child was suffering from neuronal ceroid lipofuscinosis, which was detected when epilepsy occurred five years ago. The mother, who alone is entitled to care, disavowed the diagnosis, and apparently suppresses it into her subconsciousness. Therefore she did not tell us anything about it at admission. Now the parents also agreed with the continuation of the antiepileptic medication with levetirazetam (initially parenteral). Underneath, the general condition improved rapidly. Already in the afternoon of the same day P.-J. awoke from his postictal sleep (as usual according to the parents), was cooperative, responsive, and alert and then communicated many things about himself. Retrospectively, n the base of the EEG recording, it can be assumed that P.-J. had not only the short external convulsions which lasted for only a few seconds, but had convulsions probably more or less permanently at least since the evening of the previous day. In the status epilepticus probably not all brain components were always involved in the hypersynchronous activity to the same extent, resulting in the mistakable clinical picture. As it turned out later the last MRT was carried out several years before. After one week, an MRI examination was successfully performed without sedation (in readyness for narcosis). There was no evidence of focal intraparenchymatous lesions. Levetirazepam dosis (Keppra) was gradually increased dependant on the EEG findings.