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.

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In 21 children with Moyamoya disease, intellectual examinations and measurements of regional cerebral blood flow (rCBF) were performed to evaluate whether a chronic hypoperfusion in developing brain results in a progressive intellectual deterioration or not. These children with the disease included 9 males and 12 females, and the clinical types at the onset included transient ischemic attack (TIA) type (17 cases), infarction type (2 cases), infarction+epilepsy type (1 case) and epilepsy type (1 case). These 21 children were divided into two groups according to the age at onset: a younger group with ages under 6 and an elder group with ages 6 and over. The mean IQ of the younger group was 87 and significantly lower than that of the elder group (123). The patients who suffered from this disease for a longer time and who belonged to infarction type or epilepsy type tended to have lower IQ. There were patients who had high IQ in spite of the low level of rCBF, and vice versa. Thus, there was no definite relationship between the level of rCBF and IQ in this study In patients who received intracranial-extracranial bypass surgery, though rCBF increased by approximately 10%, IQ was unchanged or improved only slightly. In this study, the poor mental prognosis was correlated with early onset in Moyamoya disease. Therefore, early diagnosis and early treatments are of significant importance in this disease.

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We studied 10 patients with corpus callosum agenesis by magnetic resonance imaging (MRI) and examined the developmental quotient (DQ) or intelligence quotient (IQ) in each case. These patients were classified into two groups which were defined from the MRI findings as follows; group 1, two patients with the complete agenesis of the corpus callosum; group 2, eight patients with the partial dysgenesis of the corpus callosum on MRI. In the group 2, five cases had the defect of the body or the splenium (localized type), and three cases had the defect from the body to the splenium of the corpus callosum (unlocalized type). MRI precisely revealed the size and the shape of the corpus callosum, especially in the sagittal view, and at the same time, the associated abnormalities. The associated abnormalities were seen in 10 cases as follows; hydrocephalus (10 cases, 100%), myelomeningocele (7 cases, 70%), Arnold-Chiari malformation type 2 (8 cases, 80%), subdural effusion (1 case, 10%), holoprosencephaly (1 case, 10%), congenital atresia of the esophagus (1 case, 10%).
DQ in two cases with the agenesis of the corpus callosum was 21, and 10, respectively. DQ and IQ were examined in 5 cases with the localized type and in 3 cases with unlocalized type. In the localized type, the mean scales of DQ and IQ were 69 and 75, respectively; in the unlocalized type, 65 and 80, respectively. The scales of DQ were very low in the patients with agenesis of the corpus callosum. In such cases, corpus callosum agenesis was accompanied with holoprosencephaly or anoxic brain.
In conclusion, the nature and the degree of the associated malformations or lesions influenced the prognosis of the patients.

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Short-latency somatosensory evoked potentials (S-SEPs) and auditory brainstem responses (ABRs) were analyzed in children with brainstem lesions (4 cases of brainstem tumors, 4 of spinocerebellar degenerations and 1 of congenital ocular motor apraxia). S-SEPs and ABRs in these patients were compared with those obtained from age-matched normal control subjects. In all cases of brainstem tumors, first examinations of S-SEPs and ABRs were recorded within one month after the onset, and follow-up S-SEPs and ABRs in three cases were recorded at 3-6 months after the onset. Combined radio-and chemotherapy was performed in every case. At first records, abnormalities of waves were more remarkable in the affected sides. Moreover, changes of waves in the follow-up records from those in the first records provided us the information with regard to the prognosis of brainstem tumors. In spinocerebellar degenerations, prolongation of P₃-N₁ interpeak latencies in S-SEPs was detected in all cases of spinocerebellar form, but not detected in familial spastic paraplegia. In the case of congenital ocular motor apraxia, shortening of P₃-N₁ interpeak latency and of I-III, III-V interpeak latencies were detected, which was compatible with narrow width of pons on CTscan. These findings may reflect the abnormal morphology of brainstem in congenital ocular motor apraxia.

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This study on ACTH-treated suckling mice was undertaken to elucidate the effect of ACTH on neuron-al growth and behavioral development. One unit of ACTH was administered successively from the day seven to eleven. ACTH-treated mice showed extreme impairment of both body weight and brain weight growth. These impairments were improved before 40 days of age. Dendritic arbolization of and V layer neurons and myelination of pyramidal tracts were also impaired. The difference of dendritic growth between ACTH-treated mice and normal controls became little at 60 days of age. The difference of myelin lamellae between these two groups was significant at 20 days of age. There was no significant difference at 30 days of age. ACTH treatment also delayed the behavioral and motor development. In our experiments, the effects of ACTH were reversible, which were inhibitory to the neuronal development

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The peripheral nerve inpthe clipped tail of twitcher mouse was investigated ultrastructurally. Numerous electron angulated inclusions were observed within the cytoplasm of Schwann cellsin twitcher mice 28 days after birth. Tubular structures were observed within the lysosomes of Schwann cells in 4-day-old homozygotes. Furthermore, another unique structure which consisted of low dense crystalline interiors and high dense wall was found at 14 days. It was concluded that these structures were gradually transformed into typical inclusions at 28 days. These findings suggest that the peripheral nerve in twitcher mice was involved after birth, and early morphological changes of peripheral nerve in the. clipped tail can be used for the morphological diagnosis andaluation of treatment in affected mice.

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Evoked potentials (EPs) including auditory brainstem responses (ABRs), visual evoked potentials (VEPs), short-latency somatosensory evoked potentials by stimulation to median nerve (m-SSEPs) and to posterior tibial nerve (t-SSEPs), were examined in 145 infants less than two years of age (mean: 8 months of age) with convulsions and/or psychomotor delay. Their underlying diseases were epilepsy, metabolic disorders, and mental retardation of unknown cause. Each of EP was classified into the following grades; normal and abnormal. Mental development was evaluated at the time of examination, after 6-12 months and again after more than 12 months. Developmental scales were determined by Tanaka-Binet or Enjouji method were also classified into normal and abnormal groups. Significant correlations were revealed between grades of three evoked potentials and psychomotor development at the time of examinations (ABR p<0.05, m-SSEP and t-SSEP p<0.01 by X²-test). VEP, m-SSEP and t-SSEP had prognosticvalues for pre-dicting developmental conditions 6 to 12 months later (VEP p<0.05, m-SSEP and t-SSEP p<0.01 by X²-test), and m-SSEP and t-SSEP also for that more than 12 months later (p<0.01, p<0.01-by X²-test, respectively). It is emphasized that m-SSEP and t-SSEP have a possibility to estimate the developmental outcome of infants.

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Three cases of mucolipidosis III (ML-III) from two families are described. Case 1, a 15-year-old male, having severe kyphoscoliosis progressing since 3 months of age, showed joint rigidity, valvular heart disease, h epatomegaly, inguinal hernia, severe growth retardation and moderate mental retardation. Case 2, a 13-year-old male, had only mild joint stiffness and case 3, a 15-year-old female (a sister of case 2), was almost asymptomatic. Results of biochemical studies with plasma, lymphocytes and cultured skin fibroblasts of these 3 cases were compatible with those of ML-IL However, case 1 showed an intermediate clinical phenotype of mucolipidosis II (ML-II) and ML-Ill and cases 2 and 3 showed milder clinical picture than that of typical ML-III. As ML-II and ML-III share the same enzymic deficiency, it is reasonable that case 1 is diagnosed as a slow progressive late infantile type and cases 2, 3 as a juvenile type of I-cell disease.

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Neurenteric cyst is a rare congenital intraspinal cyst, caused by genetic abnormality at the early stage of development of cerebral vessels.
A 2-year-old boy was admitted with complaints of difficulty in walking. Routine laboratory findings and radiographic examinations showed no abnormality. Ten days after admission, symptom of the respiratory disturbance developed. The magnetic resonance imaging revealed a intraspinal tumor at the cervical spinal cord level. After operation, respiratory disturbance diminished, but walking difficulty was not recoverd. Histologically, it was diagnosed as a neurenteric cyst.
This case shows that MRI can be a sensitive and non-invasive method in detecting spinal cord disease.

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A two-year-old girl with partial ornithine transcarbamylase deficiency (OTCD) was presented. From two years old and two months of age, she showed recurrent vomiting once a week, and gradually developed episodes of recurrent vomiting accompanied by somnolence. During these episodes the values of serum ammonia were elevated up to 646μg/dl, and subsequently transaminase levels were elevated up to 1, 032 IU/l with the decrease of ammonia. During these episodes EEG showed characteristic sinusoidal 2-2.5 c/s HVS bursts. This HVS disappeared several days later following improvements of symptoms and hyperammonemia. The importance of electroencephalographic study in patients with OTCD was emphasized.

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A 11-year-old boy with craniodiaphyseal dysplasia was described. From his birth, swelling around the nose and thick and broad mandible were noticed. Sucking was difficult because of severe nasal obstruction, and he was fed by a gastric tube. At the age of 3 months, bilateral optic atrophy was pointed out. At 2 years he was able to speak a few words, but thereafter no more increase in vocabulary was noticed. At 5 years, he was found to have hearing disturbance and after wearing a hearing-aid, he showed developmental catch up in language. He went to school for the blind because of progressive loss of vision. At 11 years, he complained of gait disturbance with weakness of extremities. His physical examination disclosed very grotesque features, such as very large head, and marked enlargement of mandibular, maxillary and zygomatic bones. There were ocular proptosis, hypertelorism, depressed nose with complete obstruction of the nasal canal and persistent lacrimation. The mouth was kept open to breathe. Neurological examination revealed bilateral anosmia, visual and hearing impairment and facial palsy. Also, spastic tetraparesis was noticed. Laboratory data revealed markedly elevated alkaline phosphatase activity. Studies of calcium and phosphate metabolism were all within normal limits. Skull X-ray revealed marked hyperostosis of the entire cranial and facial bones. There was no aeretion of sinuses or mastoid. The long bones lacked normal tubulation, and showed mainly diaphyseal thickning and sclerosis, resulting in a straight cylindrical shape (policeman's night stick). This is the first typical case of craniodiaphyseal dysplasia reported in Japan.

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[in Japanese]

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[in Japanese]

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