levetiracetam and Atrophy

Progressive myoclonic epilepsy (PME) is rare epilepsy syndrome. Although EEG is a useful neurophysiological technique in the evaluation of epilepsy, few EEG abnormalities have been described in PME. So, how to use EEG hints to establish the suspected diagnosis of PME as soon as possible should be addressed.. We presented a case with refractory myoclonic seizures, and progressive neurological deterioration, diagnosed as PME and neuronal ceroid lipofuscinosis disease by gene testing. The patient manifested with a significant regression in her speech ability and motor balance. The mini-mental state examination showed poor scores of 15/30. The magnetic resonance imaging showed diffused atrophy. Her EEG showed slow background with continuous occipital small spikes and photosensitivity. The following genetic testing with mutation in CLN6 confirmed the diagnosis and excluded the occipital epilepsy.. Our case showed rare manifestations and special EEG features of PME, which may be confused with occipital epilepsy or photosensitive epilepsy. Thus, if the continuous occipital spikes and photosensitivity were presented in a patient with refractory seizures and developmental regression, PME should be considered.

Topics: Anticonvulsants; Atrophy; Cerebral Cortex; Diagnosis, Differential; Disease Progression; Electroencephalography; Epilepsies, Partial; Female; Humans; Levetiracetam; Magnetic Resonance Imaging; Membrane Proteins; Mental Status and Dementia Tests; Mutation; Myoclonic Epilepsies, Progressive; Neuronal Ceroid-Lipofuscinoses; Occipital Lobe; Photosensitivity Disorders; Piracetam; Valproic Acid; Young Adult

Dyke-Davidoff-Masson Syndrome (DDMS) is a rare neurological condition characterised by drug-resistance seizures, hemiparesis, mental retardation, facial asymmetry, and intellectual disabilities. On brain imaging, the disease is characterised by cerebral hemiatrophy with ipsilateral calvarial thickening and hyperpneumotisation of paranasal sinuses or mastoid air cells. Although more common in men and on the left side of the brain, the disease can affect both genders and cerebral hemispheres. It mainly presents in childhood. The adult presentation is unusual but has been reported in medical literature. Most of the patients need more than one antiepileptic agent for optimal control of seizures. Hemispherectomy is reserved for patients who have drug-resistant and disabling seizures. The good prognostic factors are disease onset before age of two and better seizure control. We report two cases of DDMS occurring in teenage boys who presented with status epilepticus. The clinical histories, radiological findings, and treatment of both patients are discussed below.

Topics: Adolescent; Atrophy; Brain; Carbamazepine; Female; Humans; Levetiracetam; Magnetic Resonance Imaging; Paresis; Seizures; Status Epilepticus

The treatment of progressive myoclonic epilepsy (PME) is largely empirical, even though valproic acid (VPA) is usually considered the drug of first choice. However, VPA should be used with caution in PME due to mitochondrial dysfunction, i.e. in MERRF (myoclonic epilepsy with ragged red fibers) syndrome, because of its interaction with mitochondrial respiration and metabolism. Levetiracetam (LEV) treatment was started in combination with VPA in a patient with typical clinical, histological, and biochemical features of MERRF due to a mutation on the tRNA of Phenilalanine gene. The average myoclonus score improved dramatically, as well as the quality of life and no side effects were observed, even after having withdrawn VPA. LEV may benefit myoclonus in PME of mitochondrial origin without altering mitochondrial function, and it could be considered the drug of first choice for the treatment of myoclonus in MERRF.

Topics: Activities of Daily Living; Anticonvulsants; Atrophy; Brain; Drug Therapy, Combination; Female; Genetic Predisposition to Disease; Humans; Levetiracetam; MERRF Syndrome; Middle Aged; Mitochondria; Muscle, Skeletal; Mutation; Myoclonus; Phenylalanine; Piracetam; Quality of Life; RNA, Transfer; Treatment Outcome; Ubiquinone; Valproic Acid