Epileptic Disorders最新文献

Pathogenic RARS2 variants, by critically reducing mitochondrial arginyl-tRNA aminoacylation activity, cause a rare autosomal recessive disease, generally presenting as a severe encephalopathy with onset at birth, premature death, microcephaly, drug-resistant epilepsy, and hypotonia.^1-9 Epilepsy was reported in ~90% of the cases, often with myoclonic and clonic seizures.² As in other primary mitochondrial diseases, epilepsy may be attributed to ATP depletion, resulting in loss of neuron hyperpolarization (Na⁺/K⁺ ATPase activity impairment) and increased excitation (loss of GABA-mediated inhibition).¹⁰ The most frequent neuroradiological finding is cerebral atrophy, followed by pontocerebellar hypoplasia.^1-9 We report the clinical and genetic findings of a 16-year-old boy with RARS2-related encephalopathy distinguished for later onset, longer survival, and milder phenotype compared to previously reported cases.

A 13-year-old Italian boy without family history of neurological diseases was brought to the emergency room for a sleep-related focal-to-bilateral seizure. His mother reported the following ictal semiology: paroxysmal arousal from sleep, sitting up on the bed, head deviation, drooling, grunting, and asymmetric limb tonic posturing with right upper limb extension and left upper limb flexion (figure 4 sign), without awareness nor response to stimuli, with full recovery in ~10 min. EEG showed a 7 Hz background rhythm with brief trains of synchronous and asynchronous frontal 3 Hz sharp waves, prevalent on the right side (Figure 1A). After a similar second seizure on the following day, levetiracetam 500 mg twice a day was started achieving a seizure-free three-year follow-up and a consistent EEG improvement.

The patient's medical history revealed normal pregnancy, birth, and early motor development with autonomous walking at 15 months. A single episode of febrile seizure at 1 year of age was reported. At 3 years, he was referred to a pediatric neurologist for language delay with increased nonverbal communication; square wave jerks, interrupted pursuit, mild dysmetria, and tandem gait inability were observed at that time. Psychomotor and speech therapy alongside with professional school support were provided with benefit. A brain MRI at the age of 13 years revealed isolated cerebellar vermis atrophy (Figure 1B). At the last neurological examination, at 16 years, the patient displayed mild intellectual disability and cerebellar features including dysarthria, gaze difficulties, postural and kinetic tremor of upper limbs, limbs dysmetria, dysdiadochokinesia, and gait ataxia.

The combination of focal epilepsy with additional clues including cerebellar ataxia and language delay induced us to perform genetic tests: array-comparative genomic hybridization (array-CGH) resulted negative, whole-exome sequen

Cerebellar fit (CF) is characterized by paroxysmal head retroflexion and opisthotonus with preserved consciousness.^1-3 Here, we present a case of a 43-year-old male with cough syncope (CS) due to Chiari 1.5 malformation, who exhibited CF during hyperventilation (HV).⁴ EEG revealed a normal posterior dominant rhythm of 8–9 Hz. Approximately 150 s after initiating HV, the patient experienced truncal convulsion accompanied by opisthotonic posturing (Video 1). Notably, the patient retained his consciousness with open eyes. No electrographic seizure patterns were evident, the posterior dominant rhythm was preserved, and the electrocardiogram demonstrated normal sinus rhythm (Figure 1). He underwent a foramen magnum decompression and his CS and CF disappeared. As a mechanism, HV may induce dissociation between intracranial and spinal cord cerebrospinal fluid pressures, which further lower the cerebellum and compress the brainstem and cerebellum.^2-5 CF may be caused by the Guillain–Mollaret triangle disruption and CS by dysfunction of the brainstem reticular formation.^{6, 7}

This study was partially supported by JPJSBP 120217720 and by the Nakatani Foundation for Advancement of Measuring Technologies in Biomedical Engineering : Technology Exchange Program.

None of the authors have any conflicts of interest to declare.

Herein, we present the case of a 21-year-old man with a history of generalized tonic seizures since the age of 4 years. These seizures occurred either spontaneously or could be provoked by auditory stimuli such as the sounds of a vacuum cleaner or an electric shaver. Despite trials with 10 different anti-seizure medications, his seizures remained refractory. Interictal electroencephalography (EEG) revealed generalized epileptiform activity, whereas ictal EEG showed a generalized attenuation pattern. Magnetic resonance imaging revealed extensive chronic infarctions, predominantly in the bilateral cerebral watershed areas. At the age of 17, the patient underwent a one-stage complete callosotomy, which only achieved remission of auditory-provoked seizures. Based on this experience and published reports, we propose that the posterior corpus callosum, particularly the isthmus and anterior splenium, may be involved in seizures caused by unexpected sound stimuli.