Self-induced photogenic epilepsy in infants.

We studied two infants with self-induced photogenic epilepsy and investigated their seizures with simultaneous EEG and videotape recording. A 2-year-old boy showed peculiar head-nodding behavior towards bright light before he manifested myoclonic absence or myoclonic seizures. A 14-month-old infant girl showed blinking in front of the television set before myoclonic jerks developed. Neither head nodding nor blinking was associated with paroxysmal discharges. We concluded that such preictal behavior was not part of the seizure.

Complex partial seizures in children: ictal manifestations and their relation to clinical course.

We analyzed complex partial seizures in 38 children aged 0 to 13 years, using simultaneous EEG-VTR recording. In infants, seizure duration was longer, automatisms were less purposeful and more common in the oral area, and convulsive movements were frequently seen and more extensive in comparison with older children. In ictal EEG, spiky components frequently appeared in infants. Parietal or occipital ictal foci were more often associated with mental or physical abnormalities than were frontal or central foci. Extensive convulsive movements were inversely proportional to seizure prognosis in older children. Interictal paroxysmal discharges were observed less frequently in infants.

Visual seizures in children.

Twenty-one children (11 boys, 10 girls) suffering from visual seizures were studied. The visual seizures manifested as loss of vision, flickering light, blurring or figurative hallucinations. Ictal EEGs during visual seizures were recorded in 4 cases; the ictal discharges all originated in the occipital area. Visual seizures appeared in association with two or more non-visual ictal signs. In 18 cases, interictal EEGs revealed epileptiform discharges in the occipital area. In 3 cases, all girls, interictal EEGs showed photoconvulsive responses and focal spikes outside the occipital areas. They experienced clinical seizures when watching television and were thought to have photosensitive partial seizures.

A case of pseudo-Zellweger syndrome with a possible bifunctional enzyme deficiency but detectable enzyme protein. Comparison of two cases of Zellweger syndrome.

Three infants with peroxisomal disorders were investigated clinicobiochemically and neuroradiologically. Two had classical Zellweger syndrome, and cranial CT scans showed typical disproportionate enlargement of the occipital horns of the lateral ventricles (colpocephaly) with marked hypodensity of the white matter. In one female infant, although the clinical findings were similar to those in Zellweger syndrome, some findings, such as elevated transaminase levels, liver fibrosis, the absence of renal cortical cysts and colpocephaly, were negative or milder. Biochemical analyses revealed increased very long-chain fatty acids, dicarboxylic aciduria and impaired beta-oxidation of lignoceric acid. However, peroxisomes were abundantly present in hepatocytes and cultured fibroblasts, and all peroxisomal beta-oxidation enzyme proteins were detected on immunoblot analysis. A cell fusion study suggested that the enzyme responsible for this case of 'pseudo-Zellweger syndrome' is bifunctional.

Prognostic factors of convulsive disorders in the first year of life.

Prognostic factors for mental and physical development and seizure control were investigated in 194 patients with convulsive disorders in the first year of life, excluding infantile spasms, neonatal convulsions and occasional convulsions. Thirty-three patients with febrile convulsions were included in the study. All patients were followed up to age six or older. The cases were subdivided into five etiologic groups; prenatal, perinatal, postnatal, doubtful and cryptogenic. Those with delayed development before the onset of seizures, or neurological abnormalities at the first visit had significantly less chance of being seizure-free and attaining normal mental and physical development. The prognosis for seizures and mental and physical development was much better in the patients with brief, symmetric, generalized tonic and/or clonic convulsions. This was also true with cryptogenic cases. There was a significant correlation between the initial EEGs and the long-term prognosis for mental and physical development and seizure control. Normal EEG was associated with a good prognosis. From these data, the neurodevelopmental status before the onset, the clinical features of convulsions and EEG findings in the infantile period were demonstrated to be important prognostic factors in addition to etiology.

Auditory brainstem response: a comparative study of ipsilateral versus contralateral recording in neurological disorders of children.

The auditory brain stem response (ABR) was studied in 103 normal and 90 neurologically abnormal children. The ABR was recorded simultaneously in Cz to the mastoid both ipsilateral and contralateral to the stimulated ear. A comparison between the ipsilateral and contralateral recording demonstrated that contralateral recording resulted in a small increase in the latency of peak V, whereas peak III showed a small latency reduction in the large majority of normal and neurologically abnormal children despite relatively large intersubject variability. There were some cases (cerebral palsy, infantile spasms) which demonstrated abnormal ABR only on contralateral recordings. Since most averaging systems have two channels, it is desirable to record the ABR simultaneously on bilateral recordings.

Benign complex partial epilepsies in infancy.

Nine infants with benign complex partial seizures, diagnosed by simultaneous electroencephalogram and video recordings, are described. At mostly 3-10 months of age, these infants demonstrated clusters of seizures which consisted of motion arrest, decreased responsiveness, staring or blank eyes mostly with simple automatisms, and mild convulsive movements associated with focal paroxysmal discharges. The seizures were controlled easily with carbamazepine or phenobarbital and all patients remained seizure-free for more than 3 years. Four patients had family histories of benign types of infantile convulsions. Interictal electroencephalogram and psychomotor development were normal in all patients.

EEG topography in porencephaly and arachnoid cyst.

With the topographic EEG mapping method, the correlation between the morphologic abnormality of the brain and its functional changes was investigated in 13 patients with porencephaly and arachnoid cyst verified by CT scan. The spatial distribution of the EEG activity was displayed in the delta, theta, alpha-1, alpha-2, beta-1, and beta-2 frequency bands. The abnormality of EEG topographic images (e.g., an increase of the power of delta activity and/or a decrease of the power of alpha activity in the involved side of the brain) was more marked in cases with porencephaly than those with arachnoid cyst, and in cases with mental retardation or paralysis than among those without.

[The prevalence rate and etiology of severe motor and intellectual disabilities syndrome in Okinawa].

We studied sixty-three children of severe motor and intellectual disabilities syndrome aged between 3 and 5 years, who live in Okinawa. Severe motor and intellectual disabilities syndrome were defined as those who belong to classes 1 approximately 4 of Ohshima's classification (incapable of walking with IQs not more than 35). The prevalence rate was about 1.12/1,000 live births. Forty-four% of the total children belonged to class 1 of Ohshima's classification (bedridden and IQs less than 20). The factors were: congenital 31.7%, perinatal 38.1%, postnatal 14.3%, and unknown 15.9%. The perinatal factor was still relatively high as compared with the others.

[Epidemiology of subacute sclerosing panencephalitis in Okinawa, Japan, 1970-1996].

In Okinawa, there were ten cases (7 male and 3 female) of subacute sclerosing panencephalitis (SSPE) from 1970 to 1996. All cases had a history of measles and none had received measles vaccination. The incidence of SSPE in Okinawa was 0.31 per million in 1970-1996. Being higher than other districts in Japan. Two cases contracted measles in 1973 and other three in 1990, showing a tendency to cluster.

[Long-term follow-up of absence epilepsy].

This study dealt with 58 patients with absence, of whom 46 patients had started with absence and 12 with generalized tonic-clonic seizures (GTCs). Only those patients followed up for more than five years were included, and 30 patients (51.7%) were over eighteen years of age (up to 33). All patients received the present standard medication with ethosuximide and valproate in this study. In each case the diagnosis was confirmed by clinical observation and the typical EEG pattern. A seizure-free interval of at least 1 year was defined as seizure cessation for absence, and a seizure-free interval of at least 2 years for GTCs. Thirty-eight out of 43 patients (88.4%) with absence at onset (group A) and 18 out of 22 (81.8%) older than 18 years became seizure free. Only 8 of 15 (53.3%) patients with initial GTCs (group B) and 5 of 8 (62.5%) over 18 years became seizure free. In all, about 80% of the patients with absence seizures became seizure free as did those who were followed beyond 18 years of age. Out of 15 patients with initial GTCs, 8 of 10 (80%) patients who developed absence seizures later (group B-1) became seizure free, whereas none of 5 patients who had absence and GTC at the same time (group B-2) did. The social status was mainly favorable, even if seizures were uncontrolled. Adequate predictable factors for the development of GTCs were lacking, but the clinical courses in patients of group B-1 resembled those of group A and were rather benign.

Etiologic factors and long-term prognosis of convulsive disorders in the first year of life.

Etiological factors and long-term prognosis were studied in 562 cases with convulsive disorders in the first year of life; 114 (20.3%) were prenatal, 114 (20.3%) perinatal, 24 (4.3%) postnatal, and 257 cases (45.7%) were cryptogenic. The remaining 53 (9.4%) patients were doubtful cases. The mortality before six years of age of the pre- and perinatal cases at 17.6% and 15.7%, respectively was significantly higher than in the other etiologic groups. The incidence of a family history of epilepsy or other convulsive disorders was highest in the cryptogenic cases (23.5%), and lowest in the prenatal cases (10.4%) (p less than 0.05). The onset of seizures was very early in the pre- and perinatal groups and they decreased in number after four months of age, whereas cryptogenic cases increased after four months of age. With regard to the seizure types in the first year of life, infantile spasms occurred most frequently as the initial seizures in the prenatal (62.8%) and doubtful (50.9%) group, and generalized motor seizures in the cryptogenic (78.8%) group. The prognosis of seizures and mental and physical development was much better in cryptogenic cases. More than 80% of cases with cryptogenic etiology became seizure-free, mentally and physically normal, whereas in other etiologic groups the rate was much lower.

Long-term prognosis of convulsive disorders in the first year of life: mental and physical development and seizure persistence.

A follow-up study was made on 304 children (164 boys, 140 girls) with convulsive disorders, excluding occasional convulsions, in the first year of life. All patients except 45 who died were followed until 6 years of age or older. At the final follow-up, the subjects were divided into six groups according to the degree of mental and physical development (groups I-VI). Seizures were regarded as absent if the patient had been seizure free for more than 3 years. At the final follow-up, seizures had ceased in 57.7%, and 43.4% had normal mental and physical development (group I). As to the initial diagnosis, the percentage of group I at the final follow-up was 81.8% with febrile convulsions and 37.6% with epilepsy. In patients without seizures it was 69.7% with febrile convulsions and 55.8% with epilepsy. Some 80.6% of patients with unclassified generalized motor seizures, 11.5% of those with infantile spasms, 2.9% of those with secondary generalized epilepsy other than infantile spasms, 46.4% of those with partial seizures, and 25.0% of those with hemiconvulsive seizures were finally placed in group I. The percentage of patients without seizures was 81.4, 33.0, 34.4, 57.7, and 100%, respectively. As has been suggested, among the first-year epilepsies, a subgroup with a more favorable prognosis may exist. Further studies regarding the etiology, ictal EEGs, and effectiveness of treatment and long-term prognosis of these cryptogenic benign infantile convulsions are needed to provide a firm basis for understanding convulsive disorders in the first year of life.

Epileptic nystagmus associated with typical absence seizures.

A 10-year-old girl was reported who showed horizontal nystagmus in association with typical absence and 3-cycles/s generalized, bisynchronous spike-and-wave discharges. In view of the general concept that epileptic nystagmus is a manifestation of partial seizures, the occurrence of such an association deserves documentation.

Definitions of severely mentally and physically disabled children in Japan: do the differences affect the prevalence rates of these children?

The prevalence rate of severely mentally and physically disabled children (SDC) aged 6-15 years in Okinawa prefecture on 1 May 1989 was 0.74/1000 (143/192,038) according to Oshima's classification, compared with 0.89/1000 (170/192,038) according to the Ministry of Education's classification with minor modifications. The number of children in region classes 1, 2, 3 and 4 of Oshima's classification for SDC were 100, 34, 6 and 3, respectively. The difference (n = 27) between the total numbers of SDC according to the two classifications was mainly because of 21 children categorized as "walking with support' who were included as SDC according to the Ministry of Education's classification but not as SDC according to Oshima's classification. Only region class 1 of Oshima's classification corresponded with region class 25 of the Ministry of Education's classification. The results of the present study indicate that the differences between the two definitions of SDC affect the reported prevalence rates of SDC. Therefore, changing patterns in the prevalence of SDC should be assessed by serial surveys using the same method in each district.

Predictors of long-term outcome of convulsive disorders in the first year of life: clinical usefulness of five risk factors.

The clinical usefulness of 5 risk factors (delayed development before the onset of seizures, abnormal EEG, symptomatic etiology, abnormal past histories, nonbrief symmetric generalized tonic and/or clonic convulsions) used to indicate long-term prognosis was investigated in 295 children who had convulsive disorders in the first year of life. All patients were followed up to the age of 6 years or older. Patients without any of these risk factors showed mentally and physically normal development, and 89% became seizure-free. However, only 10% or less of the high-risk group with 3 or more of these factors became mentally and physically normal. The score of these 5 factors was significantly related to the long-term prognosis and was assumed to be a valuable index to prognosis in the early stages.

[MR imaging of cerebral palsy].

We evaluated 35 patients with cerebral palsy on the basis of MR imaging findings in the brain. The types of palsy were spastic quadriplegia (n = 11), spastic diplegia (n = 9), spastic hemiplegia (n = 2), double hemiplegia (n = 1), athetosis (n = 10) and mixed (n = 2). Of all patients, 28 (80%) generated abnormal findings. In spastic quadriplegia, although eight cases revealed severe brain damage, two cases showed no abnormal findings in the brain. One of the three had cervical cord compression caused by atlanto-axial subluxation. In spastic diplegia, the findings were divided according to whether the patient was born at term or preterm. If the patient had been born prematurely, the findings showed periventricular leukomalacia and abnormally high intensity in the posterior limbs of the internal capsule on T2-weighted images. MR imaging in spastic hemiplegia revealed cerebral infarction. In the athetoid type, half of all cases showed either no abnormal findings or slight widening of the lateral ventricle. Three cases showed abnormal signals of the basal ganglia. The reason why athetoid-type palsy did not show severe abnormality is unknown. We believe that MR imaging is a useful diagnostic modality to detect damage in the brain in cerebral palsy and plays an important role in the differentiation of cerebral palsy from the spastic palsy disease.