A semiquantitative method was applied to assess the EEGs of extremely premature newborns which almost always showed discontinuous patterns.
Sixty-three EEGs were recorded of 36 neonates at conceptional ages ranging from 24 to 32 weeks. The recording was performed in a routine fashion employing the international 10/20 system with a 13-channel electroencephalograph. EOG, ECG and respiratory monitors from nose and the abdominal wall or the chest wall were also included. Each EEG was recorded for more than 1 hour. Eighteen neonates were classified as “normal” on the base of the negative CT finding, uneventful perinatal history and normal developmental states. Eighteen were “abnormal” because of neurological problems.
The EEG background activity was classified as follows in each epochs (20 seconds); F (flat pattern of less than 20μV), P (poor activity pattern of less than 50μV), D1 (discontinuous pattern with a definite EEG activity of more than 50μV lasting less than 5 sec), D2 (the EEG activity for 5-10 sec), S1 (semicontinuous pattern with the EEG activity for 10-15 sec), S2 (the EEG activity for 15-20 sec), and C (continuous pattern without suppression).
EEG activity score (AS) of each record was calculated as follows; AS=“F”(percentage of epochs classified as F in the total record)×0+“P”×1+“D1”×2+“D2”×3+“S1”×4+“S2”×5+“C”×6
The more mature the neonate was, the more active patterns and the higher activity score he had. In normal infants there was a significant correlation between the activity score and the conceptional age. (AS=26.3×conceptional age (in weeks)-392.0; r=0.72; p<0.01). “Abnormal” neonates had less active patterns and lower activity scores than “normal” neonates.

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Electroencephalographic, neuroradiological and endocrinological studies were performed to reappraise the effectiveness of and to clarify the mechanism of ACTH treatment for the age-dependent epileptic encephalopathy. Twenty-four children comprizing 8 children with Lennox syndrome who received ACTH treatment 13 times, 15 children with West syndrome who received ACTH treatment 18 times, and one child with early-infantile epileptic encephalopathy with suppression-burst (EIEE) who received one ACTH treatment were examined. They were divided into two groups (group I: below 0.016mg/kg, group II: above 0.017 mg/kg) according to the doses of Cortrosyn-Z (synthetic corticotropin) given. Cortrosyn-Z was injected intramuscularly every morning until epileptic discharges on EEG disappeared, and then Cortrosyn-Z was tapered.
The seizure-free state was attained in all children. The durations of daily ACTH injection were 14 to 40 days (mean 25 days). The children in group I attained very favorable effects; among 9 children whose seizure discharges disappeared completely, 7 children belonged to group I. There was a correlation between the doses of ACTH and serum cortisol (SC) levels. The mean SC level in group II (224.9μg/d^l) was significantly higher than that in group I (136.9μg/d^l) (p<0.025). But there was no correlation between SC levels and the improvement of seizure discharges. There was a correlation between SC levels and the brain shrinkage on CT. But there was no correlation between the brain shrinkage on CT and the improvement of seizure discharges.
It was confirmed that the treatment of ACTH was very effective against the age-dependent epileptic encephalopathy. It was interesting that the seizure-free state was obtained by even small doses of Cortrosyn-Z. It was suggested that the mechanism of ACTH therapy was more dependent on the direct effect to the brain than the pharmacological effect through the glucocorticoid.

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Eight patients with hemiplegia in chronic stages were studied with N-isopropyl-p-[¹²³I] iodoamphetamine (IMP) and single-photon emission computed tomography (SPECT) comparing with X-ray CT findings. In three patients, focal decreases of IMP were observed and these areas were larger than the abnormal areas found by X-ray CT. In the other five patients, hemispherical low perfusion of IMP was observed by SPECT, but X-ray CT showed severe atrophy with normal density. In two patients, cerebral angiography showed no abnormalities in the arterial phase.
Regional cerebral blood flow measurement using IMP would be of great value in evaluating abnormal cerebral functions in the chronic state of acute infantile hemiplegia and cerebral palsy.

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The static B-scan ultrasound imaging of the muscle, an atraumatic and noninvasive technique, was studied on 23 patients (7 children with progressive muscular dystrophy, 2 with congenital muscular dystrophy, 2 with spinal muscular atrophy, 1 with infantile neuroaxonal dystrophy, and 11 with hypotonia of probable muscular origin) and 12 control children.
Transverse and longitudinal ultrasound images of deltoid, biceps, gastrocnemius, and quadriceps muscles were obtained. The intensity of the echo reflected from the muscle was classified into five grades; from 0 (normal) to 4. Grade 1 siginified a slight increase in the muscle echo while bone and fascia echos were distinct, and grade 4 showed a markedly strong muscle echo and a complete loss of bone and fascia echos.
A diagnostic muscle biopsy was performed on 8 of 11 children with hypotonia of probable muscular origin; 5 were found to have the Grade 1 change including a considarable variation in the fiber size and the sarcoplasmic hyperactivity, without significant abnormality of the intramuscular structures as demonstrated by NADH stain. This atraumatic procedure was able to detect a mild change in the muscle.
Ultrasound scanning was very useful for selecting floppy infants for the muscle biopsy. Moreover, this invasive technique was of value in the follow-up for long time period.

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In spite of neuropathological evidences of severe white matter changes, CT is normal in the first decade of classical type Pelizaeus-Merzbacher disease (PMD). There are increasing evidences that magnetic resonance imaging (MRI) is unquestionably superior to CT in detecting a variety of cerebral abnormalities including white matter diseases. Recently abnormalities of auditory brainstem response (ABR) at an early age were reported to be helpful in early diagnosis of PMD (Garg BP, et al.). Since the classical type of PMD is very rare, we describe the findings of ABR, CT and MRI in an affected family.
A family in which 5 males in successive generations were clinically suspected to be affected with the classical X-linked recessive form of PMD is presented. Two brothers and their maternal uncle were examined by one of the author (MS). In two brothers, aged 3 years and 2 years, the disease became obvious within a month after birth with nystagmus and head tremor. Head control and sitting were achieved at the age of 18 months at which time they began to speak. They could not stand nor walk without support. They had dysmetria, weakness and hyper-reflexia of lower extremities, and mild mental retardation. Their maternal uncle, aged 37 years, showed psychomotor retardation from birth and subsequently developed spastic paraplegia. He had been able to walk with crutches until adolescence. He had dysmetria, scanning speech, athetoid posture of fingers and significant intellectual deficits.
Auditory brainstem response in both brothers revealed well defined waves I and II, low amplitude wave III and an absence of all subsequent components. CT demonstrated mild cerebral atrophy in the elder brother and was normal in the younger brother, but in their uncle, CT showed atrophy of the brainstem, cerebellum and cerebrum, and low density of the white matter of the centrum semiovale.
MRI was performed in both brothers. Although the brainstem, the internal capsule and the thalamus were myelinated, the myelination in the subcortical white matter was restricted to periventricular regions on IR sequence scans. On SE sequence, the subcortical white matter was imaged as a brighter area than the cerebral cortex. These results demonstrate that the degree of myelination in these patients was roughly equal to that of 3-to 6-month old infants.
The usefulness of ABR and MRI for early diagnosis in the classical form of PMD may be promising but should be investigated further.

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We investigated whether or not computerized tomography (CT) of skeletal muscle was of value for the diagnosis of neuromuscular disorders, through a comparison of CT findings in the skeletal muscle with histo logical findings in the muscle obtained by surgical biopsy.
There were clear histological lesions even in cases in which low density areas were not seen on CT of the skeletal muscle. The muscle exhibiting remarkably low density areas showed high proliferation of the connective tissue and high accumulation of fat, but contained no muscle fibers. Therefore, the most suitable site for a biopsy was the muscle which exhibited mildly low density areas on CT.
In floppy infants, the CT value was helpful for the diagnosis, even if low density areas did not appear because of remarkable muscle atrophy and monotonous lesions of the whole muscle.

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Thirty-one children with cerebral palsy were examined for the muscle tone, postural reactions and primitive reflexes from their neonatal period through the first year of life.
More than half of the cases showed abnormalities of the muscle tone within the first 3 months of age, while a few cases did not show abnormalities until the whole picture of cerebral palsy clearly appeared about one year of age. During the first 3 months of life, most of the cases showed six or seven abnormalities out of seven postural reactions selected by Vojta, as criteria for initiation of physiotherapy. However, some other cases showed only four to five abnormalities at the age of 4 or 5 months. In spastic children, the crossed extension reflex, the suprapubic extension reflex and the Fersen reflex tended to exist for longer periods than usual, while the foot grasping reflex tended to diminish earlier. But there were a few cases whose responses were not distinguished from those in normal infants.
Although the assessment methods mentioned above were useful for the early detection of cerebral palsy, there existed a few exceptional cases undetectable by any method. Therefore, it was considered that neurological assessments had to be made from various points of view and the regular follow-up examinations were indispensable for the early diagnosis of cerebral palsy.

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A 9-year-old girl with a 3-year history of episodes of falling down every morning due to exaggerated startle response was reported. She was diagnosed as having startle disease or hyperekplexia, because of her exaggerated startle response, clear consciousness during falling, no epileptic discharge on ictal EEG and no family history.
Besides her exaggerated responses, she had frequent episodes of mild nocturnal myoclonus. Other atypical features were mild mental retardation, frequent pavor nocturnus, interictal EEG abnormalities and circadian rhythm of exaggeration of startle responses.
Mental retardation has been reported in a few other reports. These findings indicate that this disorder is related to diffuse cerebral lesion.
Sleep disorders such as nocturnal jerks, somnambulism or nightmares reported by Gastaut et al. were observed occasionally, and the pavor nocturnus observed in our case was thought to be one of these sleep disorders. Polysomnography revealed a low rate of slow wave sleep in this case. Sleep mechanisms may be related to this disorder.
The exaggerated startle responses occurred only in the morning. This phenomenon indicates that the pathological changes in the center of circadian rhythm is involved in this disorder.
Clonazepam was effective in this case. Considering the variability of clinical features, this disorder should be regarded as a syndrome rather than a disease.

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Thalamic tumors appear less commonly in childhood and there have been few reports of “thalamic hands” in cases of thalamic tumors.
A 9-year-old girl was admitted to Fukuoka Children's Hospital Medical Center for examination of left hemiparesis. The first symptom of her disease was an abnormal posture of the left 4th finger from about 4 years of age. Incomplete paresis of the left hand appeared at 6 years, and left incomplete hemiparesis gradually developed. Neurological examination on admission showed left homonymous hemianopsia, left hemiparesis, limb ataxia of the left upper extremity, an abnormal posture of the left hand with athetosis-like involuntary movements and decreased vibratory sensation. EEG showed slight slow wave dysrhythmia and slight asymmetry. Multimodal evoked potentials showed abnormal responses in the right side. Cranial CT scanning revealed a huge mass, consisting of low density areas indicating cystic lesions and isodense areas showing a marked contrast enhancement effect. It extended from the right thalamus and basal ganglia to the right temporal lobe laterally and to the suprasellar portion anteriorly. This tumor consisting of multiple cystic cavities was partially removed, and was pathologically diagnosed as astrocytoma grade I.
Generally, thalamic tumors can be diagnosed within less than 6 months from the onset because of symptoms of increased intracranial pressure. It is interesting that the first symptom in our patient was an abnormal posture of the hand (thalamic hand), and that she gradually developed the thalamic syndrome over about 5 years without symptoms of intracranial hypertention. A thalamic hand usually appears in cerebrovascular diseases and the responsible lesion is considered to be a lateral thalamic nucleus. So, in our case, it seemed that an astrocytoma arising from this area grew very slowly.
An abnormal posture of the hand like that in this case should be paid careful attention because of the possibility of a thalamic tumor in its cause.

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A seven-year-old girl with ornithine transcarbamylase deficiency showed reccurent episodes of minorepileptic-status (MES) like symptoms. She showed normal psychomotor development. At five years of age, she developed frequent vomiting and ketonuria. From six years of age, she developed MES-like symptoms such as conciousness and sleep disturbance, an ataxic gait and myoclonic movements of the limbs almost monthly. She was seen at a hospital, where a diagnosis of epilepsy was made and she was treated with carbamazepine. Because her episodes were poorly controlled, sodium valproate was additionally administered from September 1985. At that time, her blood ammonium level was within the normal range. In November 1985, she developed a similar episode which was more prolonged compared to before, and hyperammonemia was recognized. On admission to our hospital, her blood ammonium level was abnormally high (338μg/d^l). The data of plasma amino acid analysis and the urine orotic acid level suggested that she had ornithine transcarbamylase deficiency. Enzyme studies on a liver biopsy specimen revealed a partial ornithine transcarbamylase deficiency (30%). The electroencephalographic patterns changed with blood ammonium levels. Our case suggested that metabolic disorders should be considered as one of the causes of MES-like symptoms.

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A case of 14-year-old female with hereditary progressive dystonia with marked diurnal fluctuation (HPD) was presented. After the onset at 6 years, she developed progressive dystonia of extremities which worsened towards evening. Treatment with bromocriptine (15mg/day) markedly improved the symptoms. L-dopa therapy was also attempted and no deterioration was found.
We measured the number of body movements during sleep by all night polysomnography. Body movements which had been reduced before treatment showed a marked increase in number and their distribution in each sleep stage was also normalized after treatment. Serum growth hormone peak in the initial slow sleep was not found before treatment and after L-dopa therapy. Serum prolactin level was markedly suppressed during bromocriptine therapy, but no suppression was seen after L-dopa therapy.
Bromocriptine is effective to HPD and its use as an alternative to L-dopa would be possible. There were some differences in the effects on body movements and serum pituitary hormone levels between bromocriptine and L-dopa therapy. This may show the multiplicity of dopaminergic neuron receptors.

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We reported a male of infantile type sialidosis with coarse face, ascites, hepatosplenomegaly and vacuolated lymphocytes. Sialidase deficiency was detected using 4-methyl-umbelliferyl substrate. This boy died of malnutrition and infection on the 56th day after birth. Main autopsy findings were gross adhesion of abdominal organs and large perforation of duodenum wall, which indicated the presence of congenital panperitonitis. The cause of congenital ascites in this case was due to congenital pan-peritonitis.

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[in Japanese]

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[in Japanese]

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