Selected Papers: Case Reports.

A Case of Myoclonic Absence Epilepsy with Rightward Head Turning.Case Report:A 4-year-old girl born after full-term, uneventful gestation had myoclonic absence epilepsy with rightward head turning. Her motor and mental development was normal. Her grandfather had an episode of generalized seizure without fever at age 1 year. She had a febrile convulsion at age 10 months. At age 13 months, she had a generalized tonic–clonic seizure (GTCS) without fever. Between ages 13 and 17 months, she had five episodes of GTCSs, but did not receive anticonvulsants because of normal interictal EEG during sleep. She had no seizure during the subsequent 12 months despite no medication. At age 2 years 5 months, GTCSs recurred, and she had three episodes of falling attacks. Sleep EEG showed a normal background with a few spikes in the right frontal area. Treatment with carbamazepine was started. After treatment, she had no convulsive seizures except two episodes of loss of consciousness for a few seconds. Interictal EEG during sleep at age 3 years 3 months showed diffuse irregular polyspike-and-wave discharges. At age 3 years 8 months, she had myoclonic jerking. The myoclonic jerking lasted for 1–2 s and increased in frequency and duration after 2 months. The seizures were characterized by rhythmic myoclonic jerks of shoulders and arms and turning of the eye/head to the right. The seizure duration was 7–8 s. The seizures had abrupt onset and cessation. Ictal EEG showed bilateral, symmetrical, and synchronous 3-Hz spike-and-wave discharges. Brain magnetic resonance imaging (MRI) was normal. Her developmental quotient was 97. The seizures were controlled with high-dose valproic acid and ethosuximide. Interictal EEG at age 4 years 1 month was normal.Discussion:Myoclonic absence epilepsy (MAE) was first described by Tassinari et al. as a rare epileptic syndrome. According to their report, the prognosis for MAE was less favorable than that for pyknolepsy, often with mental deterioration, and possible evolution to other types of epilepsy. They also reported head and body deviation in some patients. The present case had myoclonic absence with rightward head turning and benign outcome, including normal development. Gastaut reported that versive or circling epilepsy with bilateral 3-cps spike–waves represented a benign form of primary generalized epilepsy. Aguglia et al. reported the occurrence of versive or circling seizures in idiopathic generalized epilepsies. The present case demonstrated that unilateral or clearly asymmetrical manifestations may be observed in generalized epilepsy. The Features of Localization-Related Epilepsy in Periventricular Leukomalacia.Purpose:Periventricular leukomalacia (PVL) is an important cause of chronic neurologic disability, such as spastic diplegia, delayed cognitive development, and epilepsy, in children born prematurely. Several reports have described the relationship between West syndrome and PVL, but the other types of epilepsy are not well documented. The aims of the present study were to determine whether the severity or outcome of epilepsy can be predicted from the degree of PVL.Methods:Seven epilepsy patients (two boys and five girls) born at 22–39 weeks of gestation and weighing 416–3,425 g were studied. Mean age at onset of epilepsy was 3 years 5 months (ranging from 1 year 5 months to 5 years 2 months). In all cases, the epileptic seizure was complex partial seizure[CPS;+secondarily generalized tonic–clonic convulsion (GTC)]. A diagnosis of PVL was made with magnetic resonance imaging (MRI) during late infancy, based on ventriculomegaly with an irregular margin accompanied by a periventricular abnormal high-intensity area on T2-weighted imaging. The subjects were divided into two groups according to the severity of PVL, based on MRI findings. Mild PVL (three cases) was defined as localized volume loss of periventricular white matter from around the trigonal zone to the occipital horns, and severe PVL (four cases) was diffuse volume loss extending to the frontal horns.Results:The three subjects in the mild-PVL group were term infants, and the other four were preterm infants. The onset age of CPSs was not significantly different between the two groups and was later than that for West syndrome previously reported. Interictal electroencephalogram (EEG) revealed spike discharges in occipital or parietal lesions in all seven cases. In the severe-PVL group, several spike discharges also were found in other lesions. On MRI findings, all cases had ventriculomegaly on both sides, and two of four cases with severe PVL had right-predominant ventriculomegaly, accompanied by uregyria in the right temporoparietal lesion on MRI.Conclusions:Regardless of the presence or absence of abnormal MRI findings of the cerebral cortex, all epilepsy cases with PVL had epileptic discharges in the occipital area on EEG. The severity of EEG and epileptic seizures may depend on the degree of PVL. Electroclinical Manifestations in a Patient with Vitamin B6 Dependency.Purpose:To identify the electroclinical manifestations in a patient with vitamin B6 dependency.Case Report:An 18-month-old female infant was first seen with hyperirritability and seizures. She was born at 39 gestational weeks. Her birth weight was 3,044 g, and Apgar scores were 9 at 1 min. No family history of epilepsy existed. She showed hyperirritability immediately after birth. During the neonatal period, hemorrhagic shock developed because of melena and intraventricular hemorrhage. At age 1 month, she was referred to us because of hyperirritability and intractable seizures. An interictal EEG revealed sporadic focal spikes. Simultaneous video-EEG monitoring demonstrated erratic myoclonia, serial spasms, partial seizures, or a combination of these seizures. A poorly organized slow high-voltage background with superimposed paroxysmal features was accompanied by erratic myoclonia. An ictal EEG showed a bilateral spiky high-voltage wave followed by voltage attenuation coinciding with the clinical spasms. An ictal EEG corresponding to a partial seizure had multiple foci. The seizures were resistant to antiepileptic drugs, including phenobarbital, carbamazepine, phenytoin, and lidocaine. At age 3 months, the seizures were controlled with vitamin B6. The diagnosis of vitamin B6 dependency was confirmed at age 12 months; seizures recurred 55 h after the discontinuation of vitamin B6 and again dramatically responded to intravenous vitamin B6.Conclusions:We report an infant with vitamin B6 dependency, who had a variety of seizures including erratic myoclonia, serial spasms, and partial seizures. Automatisms With Preserved Responses Without Verbal Responses in Temporal Lobe Epilepsy.Purpose:Automatisms with preserved responses (APRs) are observed in temporal lobe epilepsy (TLE) and have been regarded as a lateralizing sign of nondominant hemispheric origin. We report two patients with left TLE with APR without verbal responses, who had language dominance in the left and bilateral hemispheres respectively.Case Report:Case 1: A 19-year-old woman had intractable seizures consisting of lip smacking and right-hand fumbling. APRs were observed during seizures, but she could not show verbal responses. Magnetic resonance imaging (MRI) demonstrated left mesial temporal sclerosis. Video-EEG monitoring, positron emission tomography (PET), and single-photon emission computed tomography (SPECT) also suggested left mesial temporal lobe epilepsy. On Wada testing, her language dominance was bilateral. Functional MRI suggested that her sensory language area might be located in the right hemisphere and motor language area in the left hemisphere. Case 2: A 20-year-old woman had intractable seizures consisting of lip smacking and bilateral hand automatism. APRs were observed during attacks, but she could not answer in words. Left mesial temporal lobe epilepsy was documented with hippocampal sclerosis on MRI. Video-EEG monitoring, PET, and SPECT findings also suggested that the seizure originated in left temporal lobe. Her language dominance was in the left hemisphere, demonstrated by Wada testing and functional MRI.Conclusions:Our patients suggest that APRs without verbal response may occur in seizures originating in dominant or partially dominant temporal lobe. A Case with Absence Seizures of Frontal Lobe Origin: Simultaneous Video-EEG Findings.Absence seizures may be defined as a paroxysmal loss of consciousness of sudden onset and sudden end, which is associated with bursts of bilaterally synchronous 3-Hz spike-and-wave discharges recorded on the EEG. Usually, it is thought to be associated with a diffuse process affecting the brain, but absence seizures also are seen in some patients with localization-related epilepsy and accompanied by bursts of almost generalized 3-Hz spike-and-waves. We describe a 9-year-old boy first seen with absence seizures of frontal lobe origin, as recorded by a simultaneous video-EEG system.Case Presentation:At age 9 years, the patient experienced onset of absence seizures consisting of sudden arrest of speech and gesture, myoclonus of unilateral or bilateral angles of the mouth, alternation of consciousness, occasional simple automatisms, and brisk recovery of consciousness. Absence seizures occurred several times a day. He also experienced complex partial seizures 1 to 3 times a month with deviation of the head and eyes toward the left, elevation of left upper limbs, loss of consciousness, salivation, and tonic convulsion of left upper and lower limbs. Interictal EEG showed sporadic right frontal dominant high-voltage slow waves or spike-and-waves. There was no abnormal finding on brain magnetic resonance imaging. Interictal single-photon emission computed tomography indicated hypoperfusion of the dorsal and medial cortex of the right middle frontal lobe. Interictal positron emission tomography also indicated hypometabolic areas in the dorsal and medial cortex of the right frontal lobe, as well as in the right temporal and parietal cortex. Ictal EEG of a complex partial seizure could not be detected because of the low frequency of seizures. Simultaneous video-EEG recordings of 10 absence seizures revealed left frontal-dominant, diffuse high-voltage 3- to 3.5-Hz spike-and-wave complexes lasting several seconds. Partial seizures never preceded the absence seizures. Transverse bipolar montage recordings revealed that the first spike component of the spike-and-wave complexes of absence seizures always showed phase reversal on the right anterior temporal electrode. Subsequent components, however, showed phase reversal on the left anterior temporal electrode and continued at the end of seizures. EEG findings and neuroimaging studies suggested that the epileptogenic focus of absence seizures with myoclonus of the angles of mouth in this patient might have originated at the dorsal cortex of the right middle frontal lobe and immediately spread to the medial cortex of the frontal lobe. Both absence and complex partial seizures were well controlled with a combination of phenytoin and high-dose sodium valproate.Discussion:Pavone et al. reported the relation of absence seizures and the frontal lobe and concluded that the frontal maximum of the 3-Hz spike-and-wave pattern indicates frontal lobe involvement during absence seizures, including both prefrontal and frontomotor portions, and the prefrontal cortex is likely to account for the motor component of absence seizures such as myoclonic twitching. They also reported that this concept can be applied not only to the absence seizures occurring in generalized epilepsy but also to the rare cases with a primary frontal epileptogenic focus leading to absence seizures, as is in the present case. [ABSTRACT FROM AUTHOR]