A case of basilar artery occlusion in childhood was presented.Eighteen cases of basilar artery occlusion in childhood including our own were analyzed and compared with those cases in adults.
A boy aged 13 years, with a four day history of mild fever, headache and dizziness, suddenly de veloped right hemiplegia, anarthria and confu sion. Cerebral angiography on admission demon strated complete occlusion of the basilar artery distal to the origins of the anterior inferior cere bellar arteries and proximal to the origins of the superior cerebellar arteries. A computerized tomography revealed an area of decreased density in the left ventral portion of the pons. The cause was unknown. The patient was given conservative therapy and was discharged with a residual mild right hemiparesis.
In contrast to the welldocumented and frequent occurrence of basilar artery occlusion in adults, to our knowledge only seventeen cases have previously been reported in children.
1) In childhood as well as in adults, basilar artery occlusion is more common in males. 2) As is well known, arteriosclerosis is the commonest cause in adults, but children the cause appears to be idiopathic and/or congenital. 3) Chief clinical manifestations are a disturbance in consciousness, hemiplegia or quadriplegia, and pupillary abnormalites both in children and adults. 4) In adults, occlusion of the proximal third of the basilar artery is common while occlusion of the middle third is common in children. Diagnosis is based on clinical manifestations, cerebral an gioraphy and computerized tomography. 6) Prognosis is fairly good in children but poor in adults.

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In order to study the mechanism attaining the erect posture of the head in normal infants as well as in children with neuromuscular diseases, surface electromyograph (S-EMG) during an antigravity reaction was analysed. The subjects were 28 normal infants aged one to nine months, and 38 infants and children with various neuromuscu lar disorders including 16 with cerebral palsy, 11 with mental retardation, 4 with Werdnig-Hoff mann's disease, 3 with congenital muscular dystrophy and 4 with congenital hydrocephalus. SEMG of the muscles of the anterior and posterior neck, and pectoral, deltoid, biceps and triceps muscles of the upper arm was recorded simulta neously on pulling-up the subjects from the supine to the sitting position.
S-EMG of normal infants showed marked discharges from the flexor muscles of the neck and the biceps muscle in both the infants with and without a steady head control. Extraneous contractions which occur in the other muscles were rare. The discharges tended to disappear or become less marked when the infants were brought to the sitting position.
In patients with cerebral palsy irregular and fluctuating discharges from the agonist and antagonist muscles were elicited simultaneously during the traction response. The fluctuation of the activity was commonly observed even after reaching the sitting position.
In many patients with mental retardation, especially associated with hypotonia, achieve ment of steady head control is delayed. S-EMG in patients with an unsteady head control did not show the activity of the antigravity muscles, suggesting a delay in the development of righting felex of the neck.Extraneous contractions were not observed.
In patients with WerdnigHoffmann's disease and congenital muscular dystrophy, high and regular activities of both the flexor and extensor muscles were observed when the patients were brought from the supine position to the sitting position. Extraneous discharges from the shoulder muscles were also observed. It appeared that a great effort of the surrounding muscles was necessary to maintain the head position against the gravity. Develoment of righting reflex seemed to be normal.
In addition to the EMG studies, correlation of the head control with Landau response, and age distribution of the achievement of a steady head control were evaluated in 250 normal infants and 152 children with various neuromuscular disorders.
In summary, a steady heady control is obtained by development of multiple mechanisms including righting reflexes acting on the antigravity muscles of the neck, adequate muscle power, and the continuous control of the tone of the acting muscles, as well as by the elimination of unne cessary muscle activity.

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The scalp EEGs of nineteen “acerebrate” children were investigated. Ten of them were dead and autopsied.
The “acerebrate” state denotes an extensive destruction in the developing brain with no or little development in mental and motor functions.
Neuropathologically extensive lesions were common in the cerebral cortex, white matter and the specific nuclei of the thalamus.
The results of investigation are summarized as follows:
1) The background activities showed diffuse slow dysrhythmia. In the cases which showed a flat pattern in background activities, markedly affected lesions were observed in the cerebral hemisphere by postmorten examination.
2) By sleep studies, almost all cases failed to show specific sleep patterns like humps and spindle activities. In some cases, there were no differences in the background activities between the waking and sleeping periods. These facts suggest the presence of some abnormalities in the mechanism of sleep.
3) Rhythmic fast activities induced by drugs were also absent in many cases.
4) Abnormal paroxysmal activities were observed in several cortical areas as multiple foci. These may represent the extensive lesions of the cerebral hemisphere.
5) During the long term observations, the back ground activities showed some deterioration in rhythm and frequency. This suggests that the lesions may have extended progressively.

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This report has described monitoring for the second pregnancy of a woman whose first child had been diagnosed as GMrgangliosidosis through clinical findings and a deficiency of /galactosidase activity in leucocytes.
Amniocentesis was performed at the 17th week of high risk pregnancy of GMlgangliosidosis. β-Galactosidese activity in cultured aminotic fluid cells was profoundly reduced, while the enzyme activity in cell-free amniotic fluid was within normal range.
Pregnancy was terminated and confirmatory studies were done by morphological examination, lipid analysis and measurement of, β-galactosidase activity in the fetal tissues. By electron microscopy, multilamellar membranous bodies were identified in the cerebral basal ganglia. Ganglioside-bound Nacetyl neuraminic acid in fetal brain was slightly increased. The ganglioside pattern was normal. 4 MU-β-galactosidase and GMl-β-galactosidase activities in fetal tissues were remarkably reduced.
A deficiency of β-galactosidase in amniotic fluid was reported in the previous cases of fetal G_M1gangliosidosis, whereas normal activity was found in this case.

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An elevenyear-old boy with amnestic aphasia complicated by Gerstmann's syndrome after epileptic seizures was reported.
In January, 1976, he had frequent generalized tonicclonic convulsion and a left hemiconvulsion in the course of a few hours. Left hemiparesis was noted on admission but the patient recovered completely within a few days.
Cerebrospinal fluid, optic fundi, skull X-ray, right carotid angiography, right and left verte bral angiography and Ybcisternography showed no abnormal findings. He was diagnosed as epilepsy (grand mal type) and was treated with anticonvulsants.
In May, 1976, he had a generalized tonicclonic convulsion of only a few minutes' duration. However, three days after this episode, he was noticed to be absentminded and was unable to name the objects and even the members of his family.
He was admitted to the Tokyo University Branch Hospital. He was diagnosed as amnestic aphasia with marked word finding difficulty by neuropsychological studies. Alexia, agraphia, acalculia, right and left disorientation, finger agnosia and constructive apraxia were also observed. In other words, he was complicated by Gerstmann's syndrome presumably caused by localized lesion of parietooccipital lobe. He also showed right hemianopsia.
He showed difficulty in both reception and expression of spoken language. In written language, the difficulty was more severe in Kanji, ideogram originated from Chinese characters than in Kana, Japanese phonetic sign language. In the course of recovery, improvement with regard to Kana was better than Kanji, and improvement of writing preceeded that of reading. He had no trouble with daily conversation two months after the onset on his illness. But one year and eight months later, he did not well in Japanese and English at school. No hemianopsia was detected after seven months.
His symptoms might be considered mainly to be a dysfunction of the left cerebral hemisphere which was caused by the epileptic disorder.
There are some reports concerning the aphasia after epileptic seizures.However, detailed examinations for cortical dysfunction in epileptic children have been little discribed.
In the present case, not only the symptoms of aphasia but also those of parietooccipital dys functions were detected by the precise examinations. Though such patients seem to be rare in ordinary clinics for epileptic children, possibility of misdiagnosis may exist especially on mild and transient cases.Pathophysiological studies for cortical functions in epileptic children may be important to establish the procedure of educational therapy for them.

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A case of Kearns-Shy syndrome in a 15-year-old boy was reported. When 9 years old, he had bilateral ptosis and ophtalmoplegia. When 11 years old, he had neural deafness and increased CSF protein was noted.When 15years old, ECG showed low voltage, right bundle branch block and first degree heart block. Retinitis pigmentosa and EEG changes were noted. Muscle biopsy showed no myopathic changes. Electron micro scopy revealed abnormal mitochondria in skeletal muscle and liver.
Progressive external ophthalmoplegia may as sociated with a various neurological and other abnormalites.Kearns and Sayre reported two patients who had the triad of external ophthal moplegia, retinitis pigmentosa and complete heart block.In addition other abnormalities were reported: neural deafness, EEG changes and in creased CSF protein.Many names were given to this syndrome, such as ophthalmoplegia plus, Kearns-Shy syndrome, oculoskeletal myopathy, or oculocraniosomatic neuromuscular disease.
The present case was reported as Kearns-Shy syndrome although myopathic changes were not noted.
It must be emphasized that the neurological features of the disorder are slowly progressive but sudden cardiac arrest mayoccur in association with the heart block.As the syndrome commonly begins in childhood, the eary diagnosis of this disease should be established by the pediatrician for the prediction of sudden cardiac arrest.

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A case of congenital dural arteriovenous fistulas with disseminated cutaneous hemangiomatosis and four skull hemangiomas is presented.
This boy was admitted to the hospital because of cutaneous hemangiomas and enlarged head at the age of 3 days. The course of pregnancy and delivery was uneventful. There was no family history of any specific diseases. The head circumference was 38.0cm. Cutaneous hemangiomas sized 2-5 mm were noted on his body and extremities.
Skull x-ray examination disclosed four bony tumors at the bilateral parietal, the occipital and the frontal bones. The bony masses were partially radiolucent and partially sclerotic with parallel bone spicula. A retrograde venous angiogram revealed the tortuous vascular network at the bony tumors, and the radioactive technetium brain scan showed a large amount of uptake. The right brachial angiogram at the age of 2 months disclosed the enlarged middle meningeal and the occipital arteries with abnormal venous circula tion suggesting dural arteriovenous fistulas which was confirmed afterwards at the age of six. No abnormality was found by scintigram of visceral organs, ophthalmoscopy and blood examination.
He was well with no severe disorder of mental and somatic development, after ventriculo-peritoneal shunt was performed because of obstructed hydrocephalus at the age of 7 months.
The bilateral carotid angiogram at the age of 6 revealed the direct communications between the bilateral middle meningeal and the right occipital arteries and the superior sagittal sinus enlarged spherically superior to the confluence. The superior sagittal sinus was not opacified posterior to the shunting site. The contrast medium flowed anteriorly in the superior sagittal sinus. The enlarged tortuous superior cerebral veins drained inferiorly toward the superficial middle cerebral veins. The insular veins were dilated and drained to the basal sinuses.
Dural arteriovenous fistulas are well recognized lesions now, but the cases of purely supratentorial involvement are not so common. The combination of arteriovenous fistulas and obstruction of the superior sagittal sinus is of great interest. Several kinds of association of cutaneous angiomatosis with central nervous lesions are well known, but the reports similar to the present case can not be found in the literature. There was no special family history suggesting the heredity. The early onset and the combination with other vascular lesions suggest one causative factor at a given embryonic stage. This is noteworthy to consider the etiology of the dural arteriovenous fistulas.

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Two cases of myoclonic encephalopathy of infants (Kinsbourne) were reported.
Both were male, aged 11 months (case 1), and 2 years and 4 months (case 2).
In both cases irritability and vomiting appeared in the convalescent stage of upper respiratory infection, followed by continual generalized myoclonus especially on the head and upper extremities, and abnormal eye movements or dancing eyes, “opsoclonus” first described by Orzechowski. Inability to sit up, to creep, and to speak was also noted in both cases. Both myoclonus and opsoclonus were aggravated by physical stimulation, excitement, drowsiness or infection, and were alleviated during sleep. Laboratory data revealed normal blood chemistry and mild pleocytosis in cerebrospinal fluid in both cases. Pleocytosis became normal soon after hospitalization in case 1, but it persisted for about 5 months in case 2. No abnormal findings were detected in pneumoencephalography, and cerebral angiography, scintigraphy and CT scan. Serial EEG were all within normal limits in both cases. The possibility of neuroblastoma was ruled out radiographically and endocrinologically in both cases. Viral study disclosed no significant elevation in titers in case 1.Antinuclear factor was positive in case 1, and become negative after administration of oral prednisolone and intramuscular ACTH.
The above findings support the concept that this disorder is infectious or postinfectious ence phalitis in etiology relating with immunopatholo gical process.
Opsoclonus appeared after the onset of myoclonus and improved before the relief of myoclonus. Opsoclonus in case 2 changed into flutter like oscillation in the convalescent stage together with improvement of clinical symptoms. The tran sformation of abnormal eye movement in the same patient according to the stage of this disorder was also reported in literature.
Therefore, two kinds of abnormal eye movement mentioned above can be considered to develop in connection with the severity of the responsible lesion.
It is generally considered in literature that the site of the lesion causing opsoclonus in this disorder exists in the brain stem.
Daily intramuscular ACTH followed by intermittent oral prednisolone seemed to be effective for the treatment of this disorder from our experince.
Mental development and physical growth were recovered almost within normal limits 2 and a half years later in case 1, and in case 2 walking with support was regained 6 months later.

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A girl with juvenile amyotrophic lateral sclerosis (ALS) was presented.She was well until the age of 9years and1month when she complained of gait disturbance with pes equinovarus which progressed slowly. At the age of 12years she had difficulty in going upstairs and easy fatigability of the arm on writing. Physical examination on admission at the age of 12years and 1month revealed spastic gait with pes equinovarus. Muscle atrophy was observed in the distal parts of extremities, more markedly in legs. Slight finger fasciculations were observed.Patellar and Achilles tendon reflexes were increased and Babinski sign was positive in right leg. Abdominal reflex was absent bilaterally. Sensory distur bances were not detected in all modalities.
Routine laboratory examinations revealed no abnormalities. Serum CPK was 34 units. Spine X-ray showed spina bifida occulta at the fifth lumbar vertebra, but myelography showed no abnormalities. Motor and sensory nerve conduction velocities were within normal limits. Electromyography showed fasciculation discharges in lower parts of legs and in opponens pollicis muscles. Left gastrocnemius muscle biopsy revealed large groups of small fibers and small groups of large fibers, exhibiting spinal anterior horn cell impairment. Sural nerve biopsy showed no abnormalities.
Though juvenile ALS with the onset under 20years of age is extremely rare and its existence is doubted, we consider this case as ALS of juvenile onset from the clinical signs suggestive of pyramidal tract impairment and the muscle biopsy findings suggesting spinal anterior horn cell impairments.

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